Metabolic Disorders and Newborn Screening

Select a pre-curated test, combine multiple tests, or customize your own test for each patient. Invitae’s pricing is per clinical area for initial order and re-requisition.

The tests and genes on this page are organized into clinical areas. If your order contains tests from multiple clinical areas, you will need to send in two sample tubes and your order will represent two billable events. Your test results will be delivered as two reports. Please contact Client Services with any questions.

up to 229 genes

Invitae Metabolic Disorders Newborn Screening Confirmation Panel

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Genetic testing for genes that are associated with metabolic disorders that are routinely screened by US newborn screening (NBS) programs.

GENES TESTED:

Primary Panel:
ABCD1 ABCD4 ACAD8 ACADM ACADS ACADSB ACADVL ACAT1 ACSF3 AHCY ALDH4A1 ARG1 ASL ASS1 AUH BCKDHA BCKDHB BTD CBS CD320 CFTR CPS1 CPT1A CPT2 DBT DNAJC19 ETFA ETFB ETFDH ETHE1 FAH FTCD G6PD GAA GALE GALK1 GALT GCDH GCH1 GLA GNMT GSS HADH HADHA HADHB HCFC1 HLCS HMGCL HPD HSD17B10 IDUA IVD LMBRD1 MAT1A MCCC1 MCCC2 MCEE MLYCD MMAA MMAB MMACHC MMADHC MTR MTRR MUT NAGS OAT OPA3 OTC PAH PC PCBD1 PCCA PCCB PPM1K PRODH PTS QDPR SERAC1 SLC22A5 SLC25A13 SLC25A15 SLC25A20 SMPD1 SPR SUCLA2 SUCLG1 TAT TAZ TMEM70

CFTR: Analysis includes the intronic variants: NM_000492.3:c.3718-2477C>T (also known as 3849+10kbC>T), c.1210-34TG[12]T[5] (also known as T5TG12), c.1210-34TG[11]T[5] (also known as T5TG11), and c.1679+1634A>G.
GAA: Analysis includes the promoter variant NM_000152.3:c.-32-13T>G as well as the common exon 18 deletion.
GALT: Analysis includes the 5 kb deletion NM_000155.3:c.[-1039_753del; 820+50_*789delinsGAATAGACCCCA] as well as the Duarte variant NM_000155.3: c.-119_-116delGTCA.
GLA: Analysis includes the intronic variant NM_000169.2:c.IVS4+919G>A.
MTRR: Analysis includes the intronic variant NM_002454.2:c.903+469T>C.
OTC: Analysis includes the intronic variant NM_000531.5:c.540+265G>A.
PC: Analysis includes the intronic variant NM_000920.3:c.1369-29A>G.

Add-on 2,4-dienoyl-CoA Reductase Deficiency Genes:
DECR1 NADK2

In addition to the primary panel, clinicians can also choose to include DECR1 and NADK2, 2a genes that haves preliminary evidence of association with 2,4-Dienoyl-CoA reductase deficiency. At this time, the association of DECR1 and NADK2 with 2,4-Dienoyl-CoA reductase deficiency remains uncertain, but some clinicians may wish to include genes that may prove to be clinically significant in the future. These genes can be added at no additional charge.

For some disorders, newborn screening is not currently possible due to lack of a specific analyte that is cost-effective for NBS labs. With molecular testing, however, this is no longer a barrier. Clinicians may choose to include this condition or any of the conditions below that either have treatment or may be difficult to diagnose. The genes below can be included at no additional charge.

Add-on Cerebral Creatine Deficiency Genes:
GAMT GATM SLC6A8

GAMT, GATM, and SLC6A8 are the 3 genes associated with cerebral creatine deficiency.

Add-on Congenital Disorders of Glycosylation Genes:
ALG1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG3 ALG6 ALG8 ALG9 ATP6V0A2 B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALNT1 B4GALT1 B4GALT7 B4GAT1 C1GALT1C1 CHST14 CHST3 CHST6 CHSY1 COG1 COG2 COG4 COG5 COG6 COG7 COG8 DDOST DHDDS DOLK DPAGT1 DPM1 DPM2 DPM3 DSE EOGT EXT1 EXT2 FKRP FKTN G6PC3 GALNT3 GFPT1 GMPPA GMPPB GNE ISPD LARGE1 LFNG MAGT1 MAN1B1 MGAT2 MOGS MPDU1 MPI NGLY1 NUS1 PAPSS2 PGM1 PGM3 PIGA PIGL PIGM PIGN PIGO PIGQ PIGT PIGV PIGW PMM2 POFUT1 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 RFT1 RPN2 SEC23A SEC23B SLC26A2 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SLC35D1 SRD5A3 SSR4 ST3GAL3 ST3GAL5 STT3A STT3B TMEM165 TMEM5 TRIP11 TUSC3 XYLT1

Many of CDGs can present in the newborn period with findings such as hypotonia, seizures, brain imaging abnormalities, hepatopathy, coagulopathy, microcephaly, as well as others.

FKTN: Analysis includes the intronic variant NM_001079802.1:c.647+2084G>T as well as the 3 kb retrotransposon insertion in the 3' UTR at c.*4287_*4288ins3062.
SLC26A2: Analysis includes the intronic variant NM_000112.3:c.-26+2T>C.

Add-on Generalized Leukodystrophies:
ARSA ASPA GALC GM2A HEXA HEXB

These genes cause 6 disorders, metachromatic leukodystrophy, Canavan disease, GM2-gangliosidosis AB variant, Krabbe disease, Tay Sachs disease, and Sandhoff disease, that can cause early-onset leukodystrophy. Krabbe disease is currently included in newborn screening in the state of New York; however, since the implementation of this disorder, its inclusion has remained controversial.

GALC: Analysis includes the large (30 kb) deletion for Krabbe Disease.

Add-on Glucose Transporter Type 1 (GLUT1) Deficiency Gene:
SLC2A1

SLC2A1 is associated with GLUT1 deficiency.

Add-on Glycine Encephalopathy Genes:
AMT GCSH GLDC LIAS NFU1 SLC6A9

These genes are associated with glycine encephalopathy and/or elevated glycine levels.

Add-on Mucopolysaccharidosis Type II (MPSII) Gene:
IDS

IDS is associated with MPSII

Add-on Niemann-Pick Type C Genes:
NPC1 NPC2

NPC1 and NPC2 are associated with Niemann-Pick type C.

Add-on Pyridoxal 5’-phosphate-dependent Epilepsy Gene:
PNPO

PNPO is associated with pyridoxal 5’-phosphate-dependent epilepsy.

Add-on Pyridoxine-responsive Epilepsy Gene:
ALDH7A1

ALDH7A1 is associated with pyridoxine-responsive epilepsy.

Add-on Smith-Lemli-Opitz Syndrome Gene:
DHCR7

DHCR7 is associated with Smith-Lemli-Opitz syndrome.

Add-on Cerebrotendinous Xanthomatosis Gene:
CYP27A1

CYP27A1 is associated with cerebrotendinous xanthomatosis.

Add-on 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) Synthase Deficiency Gene:
HMGCS2

HMGCS2 is the gene associated with HMG-CoA synthase deficiency.

Add-on Succinyl-CoA:3-ketoacid CoA Transferase (SCOT) Deficiency Gene:
OXCT1

OXCT1 is associated with SCOT deficiency.

Add-on Neuronal Ceroid Lipofuscinosis Genes:
ATP13A2 CLN2 (TPP1) CLN3 CLN5 CLN6 CLN8 CTSD KCTD7 MFSD8 PPT1

These genes are associated with pediatric forms of neuronal ceroid lipofuscinosis, also known as Batten disease.

CLN3: Analysis includes the intronic variant NM_001042432.1; c.461-13G>C.
PPT1: Analysis includes the large, mostly intronic deletion NM_000310.3:c.124+1215_235-102del3627 as well as the intronic variant NM_000310.3:c.125-15T>G.

6 genes

Invitae Lysosomal Storage Disorders Newborn Screening Panel

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Genetic testing for 6 genes associated with lysosomal storage disorders appearing on some US newborn screening panels.

GENES TESTED:

GAA GALC GLA IDS IDUA SMPD1

GAA: Analysis includes the promoter variant NM_000152.3:c.-32-13T>G as well as the common exon 18 deletion.
GALC: Analysis includes the large (30 kb) deletion for Krabbe Disease.
GLA: Analysis includes the intronic variant NM_000169.2:c.IVS4+919G>A.

1 gene

Invitae X-Linked Adrenoleukodystrophy Newborn Screening Confirmation Test

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Genetic testing for the ABCD1 gene, which is associated with X-linked adrenoleukodystrophy, a disorder that may be screened by some state newborn screening (NBS) programs.

GENES TESTED:

ABCD1

1 gene

Invitae Low C0 Test

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Genetic testing for the SLC22A5 gene, which is associated with primary carnitine deficiency and low C0 on newborn screening (NBS) and carnitine analysis.

GENES TESTED:

SLC22A5

1 gene

Invitae Elevated C0/(C16+C18) Test

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Genetic testing for carnitine palmitoyltransferase 1 deficiency, a disorder of long-chain fatty acid oxidation that is associated with elevated C0/(C16+C18) acylcarnitine ratio on NBS or acylcarnitine analysis.

GENES TESTED:

CPT1A

9 genes

Invitae Elevated C3 Panel

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Genetic testing for nine genes that are associated with elevated C3 on newborn screening (NBS).

GENES TESTED:

BTD HLCS MMAA MMAB MMACHC MMADHC MUT PCCA PCCB

1 gene

Invitae Elevated C3-DC Test

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Genetic testing for the MLYCD gene, which is associated with malonic aciduria and elevated C3-DC on newborn screening (NBS) or acylcarnitine analysis.

GENES TESTED:

MLYCD

3 genes

Invitae Elevated C4 Panel

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Genetic testing for up to three genes that are associated with elevated C4 on newborn screening (NBS) or plasma acylcarnitines.

GENES TESTED:

ACAD8 ACADS ETHE1

2 genes

Invitae Elevated C4-OH Test

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Genetic testing for the HADH and HIBCH genes, which are associated with medium/short chain acyl-coA dehydrogenase deficiency and elevated C4-OH on acylcarnitine analysis.

GENES TESTED:

HADH HIBCH

7 genes

Invitae Elevated C4 and C5 Panel

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Genetic testing for 7 genes that are associated with elevated C4 & C5 on newborn screening (NBS) or acylcarnitine analysis.

GENES TESTED:

ETFA ETFB ETFDH ETHE1 SLC52A1 SLC52A2 SLC52A3

2 genes

Invitae Elevated C5 Panel

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Genetic testing for ACADSB and IVD, which are associated with elevated C5 on newborn screening (NBS) or plasma acylcarnitine analysis.

GENES TESTED:

ACADSB IVD

1 gene

Invitae Elevated C5-DC Test

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Genetic testing for the GCDH gene, which is associated with glutaric aciduria type I and elevated C5-DC on newborn screening (NBS) or acylcarnitine analysis.

GENES TESTED:

GCDH

12 genes

Invitae Elevated C5-OH Panel

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Genetic testing for 12 genes that are associated with elevated C5-OH on newborn screening (NBS) or acylcarnitines.

GENES TESTED:

ACAT1 AUH BTD DNAJC19 HLCS HMGCL HSD17B10 MCCC1 MCCC2 OPA3 SERAC1 TAZ

1 gene

Invitae Elevated C6, C8 and C10 Test

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Genetic testing for the ACADM gene, which is associated with elevated C6, C8, and C10 acylcarnitines on newborn screening (NBS) or acylcarnitine analysis.

GENES TESTED:

ACADM

1 gene

Invitae Elevated C14 and C14:1 Test

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Genetic testing for the ACADVL gene, which is associated with elevated C14, C14:1 acylcarnitines on newborn screening (NBS) or acylcarnitine analysis.

GENES TESTED:

ACADVL

2 genes

Invitae Elevated C16-OH, C16:1-OH, C18-OH and C18:1-OH Panel

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Genetic testing for the HADHA and HADHB genes, which are associated with elevated C16-OH, C16:1-OH, C18-OH, and C18:1-OH acylcarnitines on newborn screening (NBS) or acylcarnitine analysis.

GENES TESTED:

HADHA HADHB

2 genes

Invitae Elevated C16, C16:1, C18, and C18:1 Panel

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Genetic testing for CPT2 and SLC25A20, which are associated with elevated C16, C16:1, C18, and C18:1 on newborn screening (NBS) or plasma acylcarnitines.

GENES TESTED:

CPT2 SLC25A20

1 gene

Invitae Elevated Arginine Test

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Genetic testing for the ARG1 gene, which is associated with arginase deficiency—a cause of elevated arginine on newborn screening (NBS) or plasma amino acids.

GENES TESTED:

ARG1

up to 5 genes

Invitae Elevated Citrulline Panel

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Genetic testing for up to 5 genes that are associated with elevated citrulline on newborn screening (NBS) or plasma amino acids.

GENES TESTED:

Primary Panel:
ASL ASS1 PC SLC25A13

PC: Analysis includes the intronic variant NM_000920.3:c.1369-29A>G.

Add-on Dihydrolipoamide Dehydrogenase Deficiency Gene:
DLD

Many cases of dihydrolipoamide dehydrogenase (DLD) deficiency have been shown to present with an elevated plasma citrulline level. It has been suggested that an elevated plasma citrulline level in the absence of a urea cycle defect warrants investigation of DLD deficiency. This gene may be included at no additional charge.

3 genes

Invitae Low Citrulline Panel

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Genetic testing for three genes that are associated with low citrulline on newborn screening (NBS) or plasma amino acids.

GENES TESTED:

CPS1 NAGS OTC

OTC: Analysis includes the intronic variant NM_000531.5:c.540+265G>A.

up to 62 genes

Invitae Elevated Glycine Panel

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Genetic testing for genes associated with elevated plasma and/or CSF glycine levels.

GENES TESTED:

Primary Panel:
AMT GCSH GLDC LIAS NFU1 SLC6A9

Add-on Organic Acidemia Genes:
ACAD8 ACADSB ACAT1 ACSF3 ASPA AUH BCKDHA BCKDHB BTD D2HGDH DBT DHTKD1 DLD DNAJC19 ETFA ETFB ETFDH ETHE1 FBP1 FH FTCD GCDH GSS HIBCH HLCS HMGCL HSD17B10 IDH2 IVD L2HGDH MCCC1 MCCC2 MCEE MLYCD MMAA MMAB MMACHC MMADHC MUT NFU1 OGDH OPA3 OPLAH OXCT1 PCCA PCCB POLG PPM1K SERAC1 SLC13A5 SLC25A1 SLC25A19 SUCLA2 SUCLG1 TAZ TMEM70

The organic acidemias can also cause elevations of glycine on plasma amino acid analysis. However, these disorders will have characteristic abnormalities on urine organic acid analysis. If urine organic acid analysis has not been performed in a patient with elevated glycine on plasma amino acids, it may be appropriate to analyze the genes associated with organic acidemias. These genes can be included at no additional charge.

5 genes

Invitae Elevated Leucine Panel

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Genetic testing for five genes that are associated with elevated leucine and maple syrup urine disease (MSUD) on newborn screening (NBS) or plasma amino acid analysis.

GENES TESTED:

BCKDHA BCKDHB DBT DLD PPM1K

up to 6 genes

Invitae Elevated Methionine Panel

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Genetic testing for up to six genes that are associated with elevated levels of methionine on newborn screening (NBS) or plasma amino acid analysis.

GENES TESTED:

Primary Panel:
AHCY CBS GNMT MAT1A

Add-on Additional Causes of Elevated Methionine Genes:
FAH SLC25A13

Tyrosinemia type I and Citrin deficiency can both cause elevations of methionine on newborn screening or plasma amino acid analysis among other amino acid abnormalities in these patients. Due to the possible elevation of methionine with these conditions, analyzing these genes may be appropriate. These genes can be added at no additional charge.

6 genes

Invitae Elevated Phenylalanine Panel

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Genetic testing for six genes associated with elevated phenylalanine on newborn screening (NBS) or plasma amino acid analysis.

GENES TESTED:

GCH1 PAH PCBD1 PTS QDPR SPR

2 genes

Invitae Elevated Proline Panel

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Genetic testing for ALDH4A1 and PRODH, two genes that are associated with elevated levels of proline on newborn screening (NBS) or plasma amino-acid analysis.

GENES TESTED:

ALDH4A1 PRODH

1 gene

Invitae Elevated Succinylacetone Test

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Genetic testing for the FAH gene, which is associated with elevated succinylacetone, the biochemical hallmark for tyrosinemia type I resulting from FAH deficiency.

GENES TESTED:

FAH

3 genes

Invitae Elevated Tyrosine Panel

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Genetic testing for FAH, TAT, and HPD, three genes that are associated with elevations of tyrosine on newborn screening (NBS) or plasma amino acid analysis.

GENES TESTED:

FAH HPD TAT

1 gene

Invitae Alkaptonuria Test

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Genetic testing for HGD gene, the only gene associated with alkaptonuria (AKU), which causes characteristic dark colored urine as well as darkly pigmented connective tissue.

GENES TESTED:

HGD

11 genes

Invitae Combined Methylmalonic Acidemia and Homocystinuria Panel

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Genetic testing for 11 genes that are associated with combined methylmalonic acidemia and homocystinuria.

GENES TESTED:

ABCD4 AMN CD320 CUBN GIF HCFC1 LMBRD1 MMACHC MMADHC TCN1 TCN2

CUBN: Analysis includes the intronic variant NM_001081.3: c.3330-439C>G.

3 genes

Invitae Cystinuria Panel

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Genetic testing for 3 genes associated with cystinuria, a condition that is characterized by a predisposition to developing cystine stones in the kidneys, bladder, and ureters.

GENES TESTED:

PREPL SLC3A1 SLC7A9

PREPL: Only deletion/duplication analysis is offered for this gene.

3 genes

Invitae Disorders of Serine Biosynthesis Panel

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Genetic testing for 3 genes that are associated with disorders of serine biosynthesis.

GENES TESTED:

PHGDH PSAT1 PSPH

PSPH: Deletion/duplication and sequencing analysis is not offered for exons 4-5 (NM_004577.3).

6 genes

Invitae Glycine Encephalopathy Panel

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Genetic testing for 6 genes that are associated with glycine encephalopathy, which can cause encephalopathy, hypotonia, seizures, and elevated plasma and cerebrospinal fluid (CSF) glycine levels.

GENES TESTED:

AMT GCSH GLDC LIAS NFU1 SLC6A9

up to 19 genes

Invitae Homocystinuria Panel

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Genetic testing for up to 19 genes that are associated with elevated plasma homocysteine levels.

GENES TESTED:

Primary Panel:
CBS MTHFR MTR MTRR

MTRR: Analysis includes the intronic variant NM_002454.2:c.903+469T>C.

Add-on Combined Methylmalonic Acidemia and Homocystinuria Genes:
ABCD4 AMN CD320 CUBN GIF HCFC1 LMBRD1 MMACHC MMADHC TCN1 TCN2

Disorders of cobalamin absorption and transport and well as some disorders of intracellular cobalamin metabolism can cause combined methylmalonic acidemia and homocystinuria. Given the biochemical overlap between these disorders and disorders that cause isolated homocystinuria, these genes can be included at no additional charge.

CUBN: Analysis includes the intronic variant NM_001081.3: c.3330-439C>G.

Add-on Elevated Methionine Genes:
AHCY CBS GNMT MAT1A

Methionine transmethylation defects may present increased homocysteine or homocysteine levels. Given the biochemical overlap between these disorders and disorders that cause isolated homocystinuria, these genes can be included at no additional charge.

6 genes

Invitae Hyperphenylalaninemia Panel

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Genetic testing for six genes that are associated with hyperphenylalaninemia, which causes elevated plasma phenylalanine levels or abnormal urine pterins, including phenylketonuria and tetrahydrobiopterin defects.

GENES TESTED:

GCH1 PAH PCBD1 PTS QDPR SPR

2 genes

Invitae Hyperprolinemia Panel

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Genetic testing for two genes, ALDH4A1 and PRODH, that are associated with elevated levels of proline and hyperprolinemia.

GENES TESTED:

ALDH4A1 PRODH

up to 5 genes

Invitae Maple Syrup Urine Disease Panel

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Genetic testing for up to 5 genes that are associated with elevated leucine and maple syrup urine disease (MSUD) upon newborn screening (NBS) or plasma amino acid analysis.

GENES TESTED:

Primary Panel:
BCKDHA BCKDHB DBT PPM1K

Add-on DLD Gene:
DLD

Dihydrolipoamide dehydrogenase (DLD) forms the E3 subunit of the BCKDH enzyme complex. This same E3 subunit is also a part of two other enzyme complexes, pyruvate dehydrogenase (PDC) complex and alpha-ketoglutarate dehydrogenase (αKGDH) complex. Individuals with biallelic pathogenic variants in the DLD gene present with biochemical findings similar to those observed in MSUD cases, although the clinical phenotype differs and varies from severe neonatal onset disease to a milder isolated liver presentation in adulthood.

3 genes

Invitae Tyrosinemia Panel

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Genetic testing for FAH, HPD and TAT three genes that are associated with tyrosinemia.

GENES TESTED:

FAH HPD TAT

3 genes

Invitae Galactosemia Panel

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Genetic testing for three genes that are associated with galactosemia, which can cause hepatomegaly, jaundice, neonatal sepsis, cataracts, and elevated galactose metabolites.

GENES TESTED:

GALE GALK1 GALT

GALT: Analysis includes the 5 kb deletion NM_000155.3:c.[-1039_753del; 820+50_*789delinsGAATAGACCCCA] as well as the Duarte variant NM_000155.3: c.-119_-116delGTCA.

1 gene

Invitae Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Test

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Genetic testing for the G6PD gene, which is associated with glucose-6-phosphate dehydrogenase deficiency and low levels of the G6PD enzyme.

GENES TESTED:

G6PD

1 gene

Invitae Glucose Transporter Type 1 (GLUT1) Deficiency Syndrome Test

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Genetic testing for the SLC2A1 gene, whose pathogenic variants cause glucose transporter type 1 deficiency syndrome (GLUT1DS).

GENES TESTED:

SLC2A1

23 genes

Invitae Comprehensive Glycogen Storage Disease Panel

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Genetic testing for 23 genes associated with glycogen storage disease (GSD).

GENES TESTED:

AGL ALDOA ENO3 FBP1 G6PC GAA GBE1 GYG1 GYS1 GYS2 LAMP2 LDHA PFKM PGAM2 PHKA1 PHKA2 PHKB PHKG2 PYGL PYGM RBCK1 SLC2A2 SLC37A4

GAA: Analysis includes the promoter variant NM_000152.3:c.-32-13T>G as well as the common exon 18 deletion.

11 genes

Invitae Liver Glycogen Storage Disease Panel

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Genetic testing for 11 genes associated with liver glycogen storage disease (GSD).

GENES TESTED:

AGL FBP1 G6PC GBE1 GYS2 PHKA2 PHKB PHKG2 PYGL SLC2A2 SLC37A4

up to 15 genes

Invitae Muscle Glycogen Storage Disease Panel

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Genetic testing for up to 15 genes associated with muscular glycogen storage disease (GSD).

GENES TESTED:

Primary Panel:
ALDOA ENO3 GAA GBE1 GYG1 GYS1 LAMP2 LDHA PFKM PGAM2 PHKA1 PHKB PYGM RBCK1

GAA: Analysis includes the promoter variant NM_000152.3:c.-32-13T>G as well as the common exon 18 deletion.

Add-on PGM1 Gene:
PGM1

There is significant clinical overlap between the myopathy observed in PGM1-related conditions and some of the muscular glycogen storage diseases. If clinically appropriate, this gene can be added at no additional charge.

1 gene

Invitae Hereditary Fructose Intolerance Test

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Genetic testing for the ALDOB gene which is associated with hereditary fructose intolerance (HFI).

GENES TESTED:

ALDOB

2 genes

Invitae Rare Carbohydrate Disorders Panel

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Genetic testing for the FBP1 and SLC5A1 genes, which are associated with the rare carbohydrate disorders, fructose-1,6-bisphosphatase deficiency and glucose-galactose malabsorption, respectively.

GENES TESTED:

FBP1 SLC5A1

up to 3 genes

Invitae Cerebrotendinous Xanthomatosis Test

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Genetic testing for the CYP27A1 gene, which is associated with cerebrotendinous xanthomatosis (CTX), a result of a deficiency in cholesterol homeostasis.

GENES TESTED:

Primary Panel:
CYP27A1

Add-on Sitosterolemia Genes:
ABCG5 ABCG8

Xanthomas are also part of the clinical presentation for sitosterolemia, depending on the clinical presentation of the patient, clinicians may wish to broaden analysis by including ABCG5 and ABCG8. These genes can be added at no additional charge.

up to 103 genes

Invitae Congenital Disorders of Glycosylation Panel

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Genetic testing for up to 103 genes that are associated with congenital disorders of glycosylation (CDGs).

GENES TESTED:

Primary Panel:
ALG1 ALG11 ALG12 ALG13 ALG2 ALG3 ALG6 ALG8 ALG9 ATP6V0A2 B3GLCT CHST14 COG1 COG2 COG4 COG5 COG6 COG7 COG8 DHDDS DOLK DPAGT1 DPM1 DPM2 DPM3 G6PC3 GFPT1 GMPPA GMPPB MAGT1 MAN1B1 MGAT2 MOGS MPDU1 MPI NGLY1 PGM1 PGM3 PMM2 RFT1 SEC23B SLC35A1 SLC35A2 SLC35C1 SRD5A3 SSR4 TMEM165 TRIP11 TUSC3

Add-on Preliminary-evidence Genes for Congenital Disorders of Glycosylation:
ALG14 B4GALT1 DDOST NUS1 PIGM RPN2 SEC23A SLC35A3 ST3GAL3 STT3A STT3B

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

Add-on Disorders of O-mannosylation Genes:
B3GALNT2 B4GAT1 FKRP FKTN GNE ISPD LARGE1 POMGNT1 POMGNT2 POMK POMT1 POMT2 TMEM5

Disorders of o-mannosylation have defects in o-mannosyl glycan synthesis, mainly of alpha-dystroglycan. These disorders may have overlapping phenotypes with CDGs, including muscular phenotypes, brain malformations, and eye abnormalities. These genes can be included at no additional charge.

FKTN: Analysis includes the intronic variant NM_001079802.1:c.647+2084G>T as well as the 3 kb retrotransposon insertion in the 3' UTR at c.*4287_*4288ins3062.

Add-on Glycosylation Genes Not Involved in N-glycosylation:
B3GALT6 B3GAT3 B4GALNT1 B4GALT7 C1GALT1C1 CHST3 CHST6 CHSY1 DSE EOGT EXT1 EXT2 GALNT3 LFNG PAPSS2 PIGA PIGL PIGM PIGN PIGO PIGQ PIGT PIGV PIGW POFUT1 POGLUT1 SLC26A2 SLC35D1 ST3GAL5 XYLT1

Disorders of glycosamine synthesis, glycosphingolipids and o-linked glycosylation may have overlapping phenotypes with CDGs, including delayed motor and speech development, musculoskeletal disorders, skin disorders and immune system defects. These genes can be included at no additional charge.

SLC26A2: Analysis includes the intronic variant NM_000112.3:c.-26+2T>C.

3 genes

Invitae Cerebral Creatine Deficiency Panel

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Genetic testing for three genes that are associated with creatine biosynthesis or transport.

GENES TESTED:

GAMT GATM SLC6A8

1 gene

Invitae Cystic Fibrosis Newborn Screening Confirmation Test

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Genetic testing for the gene CFTR, this test is intended for any individual with an elevated immunoreactive trypsinogen (IRT) on newborn screening (NBS), a positive sweat chloride test (sweat test), or a suspected diagnosis of a cystic fibrosis based on clinical presentation.

GENES TESTED:

CFTR

CFTR: Analysis includes the intronic variants: NM_000492.3:c.3718-2477C>T (also known as 3849+10kbC>T), c.1210-34TG[12]T[5] (also known as T5TG12), c.1210-34TG[11]T[5] (also known as T5TG11), and c.1679+1634A>G.

up to 22 genes

Invitae Fatty Acid Oxidation Defects Panel

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Genetic testing for up to 22 genes that are associated with fatty acid oxidation defects (FAODs)—disorders in the fatty acid oxidation pathway.

GENES TESTED:

Primary Panel:
ACADM ACADS ACADSB ACADVL CPT1A CPT2 ETFA ETFB ETFDH HADH HADHA HADHB HMGCL HMGCS2 MLYCD NADK2 SLC22A5 SLC25A20

Add-on Preliminary-evidence Gene for Fatty Acid Oxidation Defects:
DECR1

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include a gene which does not currently have a definitive clinical association, but which may prove to be clinically significant in the future. This gene can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

Add-on Riboflavin Transporter Deficiency Genes:
SLC52A1 SLC52A2 SLC52A3

Patients with riboflavin transporter deficiency can have elevations on plasma acylcarnitine analysis similar to patients with Multiple-Acyl CoA dehydrogenase (MAD) deficiency. Given the biochemical overlap between riboflavin transporter deficiency and MAD deficiency, analyzing these genes may be appropriate. These genes can be included at no additional charge.

2 genes

Invitae Ketogenesis Disorders Panel

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Genetic testing for up to 2 genes associated with ketogenesis defects.

GENES TESTED:

HMGCL HMGCS2

2 genes

Invitae Ketolysis Disorders Panel

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Genetic testing for 2 genes associated with ketolysis disorders, conditions that impair the ability to metabolize ketones.

GENES TESTED:

ACAT1 OXCT1

1 gene

Invitae Medium Chain Acyl-CoA Dehydrogenase Deficiency Test

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Genetic testing for the ACADM gene, which is associated with Medium Chain Acyl-CoA Dehydrogenase (MCAD) deficiency and elevated C6, C8, and C10 acylcarnitines on newborn screening (NBS) or acylcarnitine analysis.

GENES TESTED:

ACADM

up to 6 genes

Invitae Multiple Acyl-CoA Dehydrogenase (MAD) Deficiency Panel

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Genetic testing for up to 6 genes that are associated with multiple acyl-CoA dehydrogenase (MAD) deficiency, which can cause metabolic acidosis, hypotonia, seizures, hypoglycemia, hyperammonemia, and a sweaty-sock odor.

GENES TESTED:

Primary Panel:
ETFA ETFB ETFDH

Add-on Riboflavin Transporter Deficiency Genes:
SLC52A1 SLC52A2 SLC52A3

Patients with riboflavin transporter deficiency can have elevations on plasma acylcarnitine analysis similar to patients with MAD deficiency. Given the biochemical overlap between riboflavin transporter deficiency and MAD deficiency, analyzing these genes may be appropriate. These genes can be included at no additional charge.

1 gene

Invitae Very Long Chain Acyl-CoA Dehydrogenase Deficiency Test

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Genetic testing for the ACADVL gene, which is associated with very long chain acyl-CoA dehydrogenase (VLCAD) deficiency and elevated C14, C14:1 acylcarnitines on newborn screening (NBS) or acylcarnitine analysis.

GENES TESTED:

ACADVL

up to 53 genes

Invitae Comprehensive Lysosomal Storage Disorders Panel

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Genetic testing for up to 53 genes associated with lysosomal storage diseases (LSD).

GENES TESTED:

Primary Panel:
AGA ARSA ARSB ASAH1 ATP13A2 CLN2 (TPP1) CLN3 CLN5 CLN6 CLN8 CTNS CTSA CTSD CTSF CTSK DNAJC5 FUCA1 GAA GALC GALNS GLA GLB1 GM2A GNPTAB GNPTG GNS GRN GUSB HEXA HEXB HGSNAT HYAL1 IDS IDUA KCTD7 LAMP2 LIPA MAN2B1 MANBA MCOLN1 MFSD8 NAGA NAGLU NEU1 NPC1 NPC2 PPT1 PSAP SGSH SLC17A5 SMPD1 SUMF1

CLN3: Analysis includes the intronic variant NM_001042432.1; c.461-13G>C.
GAA: Analysis includes the promoter variant NM_000152.3:c.-32-13T>G as well as the common exon 18 deletion.
GALC: Analysis includes the large (30 kb) deletion for Krabbe Disease.
GLA: Analysis includes the intronic variant NM_000169.2:c.IVS4+919G>A.
PPT1: Analysis includes the large, mostly intronic deletion NM_000310.3:c.124+1215_235-102del3627 as well as the intronic variant NM_000310.3:c.125-15T>G.

Add-on Chitotriosidase Deficiency Gene:
CHIT1

Chitotriosidase (chito) is an enzyme that can be extremely elevated in untreated Gaucher disease. The degree of elevation generally correlates with Gaucher disease burden. Plasma chito levels are often utilized as a biomarker in the diagnosis and management of Gaucher patients. Certain variants in the CHIT1 gene lead to absent or decreased chito levels (chito deficiency) limiting the utility of chito as an accurate biomarker unless genotype is available to aid in the interpretation of results. This gene can be added at no additional charge.

1 gene

Invitae Cystinosis Test

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Genetic testing for the CTNS gene which is associated with cystinosis; a lysosomal storage disorder typically associated with renal Fanconi syndrome and corneal cystine crystals.

GENES TESTED:

CTNS

1 gene

Invitae Farber Lipogranulomatosis Test

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Genetic testing for the ASAH1 gene which is associated with Farber lipogranulomatosis.

GENES TESTED:

ASAH1

1 gene

Invitae Fabry Disease Test

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Genetic testing for the gene GLA which causes Fabry disease, featuring renal, cardiovascular, and cardiac disease, skin or ocular symptoms, and peripheral pain.

GENES TESTED:

GLA

GLA: Analysis includes the intronic variant NM_000169.2:c.IVS4+919G>A.

3 genes

Invitae GM2 Gangliosidosis Panel

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Genetic testing of 3 genes associated with the GM2-gangliosidoses.

GENES TESTED:

GM2A HEXA HEXB

up to 2 genes

Invitae Krabbe Disease Test

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Genetic testing for the GALC gene, which is associated with Krabbe disease, a result of galactocerebrosidase deficiency.

GENES TESTED:

Primary Panel:
GALC

GALC: Analysis includes the large (30 kb) deletion for Krabbe Disease.

Add-on Prosaposin Deficiency Gene:
PSAP

In addition to the primary test, clinicians can also choose to include the PSAP gene, which encodes prosaposin, which creates saposin A, an activator for galactocerebrosidase which has a preliminary association with Krabbe disease. Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Thus gene can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

1 gene

Invitae Lysosomal Acid Lipase Deficiency Test

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Genetic testing for the LIPA gene in which pathogenic variants results in lysosomal acid lipase (LAL) deficiency and causes cholesteryl ester storage disease (CESD) and Wolman disease (WD).

GENES TESTED:

LIPA

up to 7 genes

Invitae Metachromatic Leukodystrophy Panel

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Genetic testing of genes associated with metachromatic leukodystrophy (MLD).

GENES TESTED:

Primary Panel:
ARSA PSAP SUMF1

Add-on Generalized Leukodystrophies Genes:
ASPA GALC HEXA HEXB

Phenotypic features of MLD can overlap with generalized leukodystrophies. Given the significant phenotypic overlap between MLD, Canavan disease, Krabbe disease, Tay Sachs, and Sandhoff disease, analyzing the genes associated with these disorders may be appropriate. These genes can be included at no additional charge.

GALC: Analysis includes the large (30 kb) deletion for Krabbe Disease.

4 genes

Invitae Mucolipidosis Panel

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Genetic testing for 4 genes associated with the mucolipidoses.

GENES TESTED:

GNPTAB GNPTG MCOLN1 NEU1

up to 23 genes

Invitae Comprehensive Mucopolysaccharidoses (MPS) Panel

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Genetic testing for genes associated with mucopolysaccharidosis (MPS).

GENES TESTED:

Primary Panel:
ARSB GALNS GLB1 GNS GUSB HGSNAT HYAL1 IDS IDUA NAGLU SGSH

Add-on Mucolipidosis and Oligosaccharidoses Genes:
AGA CTSA CTSK FUCA1 GNPTAB GNPTG MAN2B1 MANBA MCOLN1 NAGA NEU1 SLC17A5

Phenotypic features of the mucopolysaccharidoses can overlap with certain mucolipidoses and oligosaccharidoses. Given the significant clinical overlap, analyzing the genes associated with these disorders may be appropriate. These genes may be included at no additional charge.

up to 6 genes

Invitae Mucopolysaccharidosis Type I (MPS I) Test

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Genetic testing for the IDUA gene which is associated with mucopolysaccharidosis type 1 (MPS I).

GENES TESTED:

Primary Panel:
IDUA

Add-on Clinically-overlapping Lysosomal Storage Disorder Genes:
ARSB GNPTAB GUSB IDS SUMF1

Phenotypic features of MPS I can overlap with many other lysosomal storage diseases. Given the significant clinical similarity between Hunter and Sly syndromes, Mucolipidosis III a/b (aka pseudo-Hurler dystrophy), and multiple sulfatase deficiency, these genes can be included at no additional charge.

up to 5 genes

Invitae Mucopolysaccharidosis Type II (MPS II) Test

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Genetic testing for the IDS gene, which is associated with mucopolysaccharidosis type II (MPSII), a progressive condition with multi-organ involvement.

GENES TESTED:

Primary Panel:
IDS

Add-on Clinically-overlapping Genes:
GNPTAB GUSB IDUA SUMF1

Phenotypic features of MPS II can overlap with other MPSs and mucolipidosis type III a/b. Given the significant clinical overlap between these conditions, analyzing the genes associated with MPS I, MPS VII, mucolipidosis type III a/b and multiple sulfatase deficiency may be appropriate. These genes may be included at no additional charge.

4 genes

Invitae Mucopolysaccharidosis Type III (MPS III) Panel

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Genetic testing for 4 genes, which are associated with mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome).

GENES TESTED:

GNS HGSNAT NAGLU SGSH

up to 3 genes

Invitae Mucopolysaccharidosis Type IV (MPS IV) Panel

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Genetic testing of the GALNS and GLB1 genes associated with the lysosomal storage disease mucopolysaccharidosis type IV (MPS IV, also known as Morquio syndrome).

GENES TESTED:

Primary Panel:
GALNS GLB1

Add-on Multiple Sulfatase Deficiency Gene:
SUMF1

Multiple sulfatase deficiency is a condition causing deficiencies of all of the lysosomal sulfatases, including N-acetylgalactosamine 6-sulfatase (GALNS). If prior enzyme analysis demonstrated abnormal GALNS activity but no other sulfatases were tested, it may be appropriate to analyze the SUMF1 gene to rule out multiple sulfatase deficiency. This gene can be added at no additional charge.

up to 16 genes

Invitae Multiple Sulfatase Deficiency Test

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Genetic testing for the SUMF1 gene, which is associated with multiple sulfatase deficiency (MSD).

GENES TESTED:

Primary Panel:
SUMF1

Add-on Mucolipidosis and Mucopolysaccharidosis Genes:
ARSB GALNS GLB1 GNPTAB GNPTG GNS GUSB HGSNAT HYAL1 IDS IDUA MCOLN1 NAGLU NEU1 SGSH

The phenotypic and/or biochemical features of MSD can overlap with those observed in the mucopolysaccharidoses (MPSs) or mucolipidoses. Given the similarities between these conditions, analyzing the genes associated with the MPSs or the mucolipidoses may be appropriate. These genes can be included at no additional charge.

up to 13 genes

Invitae Comprehensive Neuronal Ceroid Lipofuscinoses Panel

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Genetic testing for up to 13 that are associated with neuronal ceroid lipofuscinoses (NCL), also known as Batten disease.

GENES TESTED:

Primary Panel:
CLN2 (TPP1) CLN3 CLN5 CLN6 CLN8 CTSD KCTD7 MFSD8 PPT1

CLN3: Analysis includes the intronic variant NM_001042432.1; c.461-13G>C.
PPT1: Analysis includes the large, mostly intronic deletion NM_000310.3:c.124+1215_235-102del3627 as well as the intronic variant NM_000310.3:c.125-15T>G.

Add-on Preliminary-evidence Gene for Neuronal Ceroid Lipofuscinoses:
ATP13A2

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

Add-on Adult-onset Neuronal Ceroid Lipofuscinoses Genes:
CTSF DNAJC5 GRN

Individuals under the age of 18 should undergo comprehensive pre-test genetic counseling before considering genetic testing for adult-onset forms of NCL; specifically for the GRN gene, which, along with being associated with autosomal recessive NCL, is also associated with autosomal dominant frontotemporal dementia, a progressive neurodegenerative condition with an age of onset which ranges from the 30s to 80s. For more information on genetic testing in minors, please refer to the ASHG position statement.

up to 2 genes

Invitae Niemann-Pick Disease Types A and B Panel

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Genetic testing for the SMPD1 gene, which is associated with Niemann-Pick disease types A and B (NPA, NPB).

GENES TESTED:

Primary Panel:
SMPD1

Add-on Chitotriosidase Deficiency Gene:
CHIT1

Chitotriosidase (chito) is an enzyme that can be extremely elevated in untreated Gaucher disease. The degree of elevation generally correlates with Gaucher disease burden and plasma chito levels are often utilized as a biomarker in the diagnosis and management of Gaucher patients. Certain variants in the CHIT1 gene lead to absent or decreased chito levels (chito deficiency) limiting the utility of chito as an accurate biomarker unless genotype is available to aid in the interpretation of results. This gene can be added at no additional charge.

up to 3 genes

Invitae Niemann-Pick Disease Type C Panel

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Genetic testing for genes that are associated with Niemann-Pick, type C (NPC), a neurovisceral lysosomal storage disease of impaired lipid trafficking.

GENES TESTED:

Primary Panel:
NPC1 NPC2

Add-on Lysosomal Acid Lipase Deficiency Gene:
LIPA

In addition to the primary test, clinicians can also choose to include LIPA, which causes lysosomal acid lipase deficiency. Deficiency of the LIPA enzyme can cause increased filipin staining, a finding commonly seen in Niemann-Pick type C. This gene can be added at no additional charge.

up to 23 genes

Invitae Oligosaccharidoses Panel

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Genetic testing for up to 23 genes associated with oligosaccharidosis.

GENES TESTED:

Primary Panel:
AGA CTSA CTSK FUCA1 MAN2B1 MANBA NAGA SLC17A5

Add-on Mucolipidosis and Mucopolysaccharidosis Genes:
ARSB GALNS GLB1 GNPTAB GNPTG GNS GUSB HGSNAT HYAL1 IDS IDUA MCOLN1 NAGLU NEU1 SGSH

The phenotypic features of the oligosaccharidoses can overlap with the mucopolysaccharidoses (MPS) and certain mucolipidoses, and making them difficult to distinguish clinically. Given the significant clinical overlap, analyzing the genes associated with these disorders may be appropriate. These genes may be included at no additional charge.

up to 3 genes

Invitae Pompe Disease Test

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Genetic testing for the gene GAA, which is associated with Pompe disease (also called glycogen storage disease, type II [GSD II]).

GENES TESTED:

Primary Panel:
GAA

GAA: Analysis includes the promoter variant NM_000152.3:c.-32-13T>G as well as the common exon 18 deletion.

Add-on Danon Disease Gene:
LAMP2

There is significant clinical overlap between Pompe disease and Danon disease, and differentiating between these disorders by clinical symptoms alone can be difficult, especially early in the patient’s life. If clinically appropriate, this gene can be added at no additional charge.

Add-on Primary Carnitine Deficiency Gene:
SLC22A5

Primary carnitine deficiency can present from infancy through adulthood. Affected individuals tend to have muscle weakness in the extremities, shoulders, and hips. The heart muscle may also be weak and in children can become significantly enlarged. Depending on the patient’s clinical presentation, including this gene may be appropriate. This gene can be added for no additional charge.

1 gene

Invitae Prosaposin Deficiency Test

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Genetic testing for the PSAP gene which is associated with combined saposin deficiency (PSAPD), a rare neonatal lysosomal storage disorder characterized by acute generalized neurovisceral dystrophy associated with abnormal storage of multiple sphingolipids.

GENES TESTED:

PSAP

up to 2 genes

Invitae Sandhoff Disease Test

Order

Genetic testing for the HEXB gene, which is associated with Sandhoff disease.

GENES TESTED:

Primary Panel:
HEXB

Add-on Tay-Sachs Disease Gene:
HEXA

Given the significant clinical overlap between Sandhoff disease and Tay Sachs disease, analyzing HEXA, the gene associated with Tay Sachs, may be appropriate. The HEXA gene can be included at no additional charge.

up to 2 genes

Invitae Tay-Sachs Disease Test

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Genetic testing for HEXA, the only gene known to be associated with Tay-Sachs disease (TSD).

GENES TESTED:

Primary Panel:
HEXA

Add-on Sandhoff Disease Gene:
HEXB

Given the significant clinical overlap between Sandhoff disease and Tay Sachs disease, analyzing HEXB, the gene associated with Sandhoff, may be appropriate. The HEXB gene can be included at no additional charge.

1 gene

Invitae ATP7A-Related Disorders

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Genetic testing for ATP7A, the only known gene associated with Menkes syndrome, occipital horn syndrome, and ATP7A-related distal motor neuropathy.

GENES TESTED:

ATP7A

5 genes

Invitae Copper Metabolism Disorders Panel

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Genetic testing for 5 genes associated with disorders of copper transport and metabolism.

GENES TESTED:

AP1S1 ATP7A ATP7B CP SLC33A1

1 gene

Invitae Wilson Disease Test

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Genetic testing for the ATP7B gene, which is associated Wilson disease, a disorder characterized by liver disease, neurologic (movement) disorders, psychiatric symptoms, hemolytic anemia, low serum copper and ceruloplasmin, and high urine copper excretion.

GENES TESTED:

ATP7B

up to 37 genes

Invitae Neurotransmitter Disorders Panel

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Genetic testing for up to 37 genes that are associated with inborn errors of neurotransmission, including disorders of monoamine metabolism, GABA metabolism, and neurotransmitter receptors and transporters.

GENES TESTED:

Primary Panel:
ABAT ALDH5A1 ALDH7A1 AMT ARHGEF9 DBH DDC GAD1 GCH1 GCSH GLDC GLRA1 GLRB GPHN MAOA PCBD1 PHGDH PNPO PSAT1 PSPH PTS QDPR SLC25A22 SLC6A3 SLC6A5 SPR TH

DDC: Deletion/duplication analysis is not offered for exons 10-11 (NM_000790.3).
PSPH: Deletion/duplication and sequencing analysis is not offered for exons 4-5 (NM_004577.3).

Add-on Neurodegeneration with Brain Iron Accumulation Genes:
ATP13A2 C19orf12 COASY CP DCAF17 FA2H FTL PANK2 PLA2G6 WDR45

Neurodegeneration with brain iron accumulation (NBIA) is a group of disorders characterized by iron accumulation in the basal ganglia causing the “eye of the tiger” sign on MRI. However, this sign may not always be present. Other features of these disorders include parkinsonism, dystonia, spasticity, and neuropsychiatric abnormalities; features which overlap with the inborn errors of neurotransmission. Given the significant overlap between neurotransmitter disorders and NBIA, analyzing the genes associated with NBIA may be appropriate. These genes can be included at no additional charge.

6 genes

Invitae Hereditary Hyperekplexia Panel

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Genetic testing for 6 genes associated with hereditary hyperekplexia (HKPX).

GENES TESTED:

ARHGEF9 CLPB GLRA1 GLRB GPHN SLC6A5

up to 56 genes

Invitae Organic Acidemias Panel

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Genetic testing for up to 56 genes that are associated with organic acidemia.

GENES TESTED:

Primary Panel:
ACAD8 ACADSB ACAT1 ACSF3 ASPA AUH BCKDHA BCKDHB BTD D2HGDH DBT DNAJC19 ETFA ETFB ETFDH ETHE1 FBP1 FTCD GCDH GSS HIBCH HLCS HMGCL HSD17B10 IDH2 IVD L2HGDH MCCC1 MCCC2 MCEE MLYCD MMAA MMAB MMACHC MMADHC MUT OPA3 OPLAH OXCT1 PCCA PCCB POLG PPM1K SERAC1 SLC25A1 SUCLA2 SUCLG1 TAZ TMEM70

Add-on Kreb Cycle Defect Genes:
DHTKD1 DLD FH NFU1 OGDH SLC13A5 SLC25A19

The inherited disorders of Kreb cycle metabolism will cause elevations of Kreb cycle intermediates on urine organic acid analysis. Young infants and urine samples that are very dilute will also have elevations of Kreb cycle intermediates on urine organic acid analysis. Given the elevations that can arise on urine organic acid analysis, analyzing the genes associated with these disorders may be appropriate. These genes can be included at no additional charge.

4 genes

Invitae 2-Hydroxyglutaric Aciduria Panel

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Genetic testing for 4 genes that are associated with 2-hydroxyglutaric aciduria.

GENES TESTED:

D2HGDH IDH2 L2HGDH SLC25A1

2 genes

Invitae 3-Methylcrotonyl-CoA Carboxylase Panel

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Genetic testing for two genes that are associated with 3-methylcrotonyl-CoA carboxylase (3MCC) deficiency.

GENES TESTED:

MCCC1 MCCC2

7 genes

Invitae 3-Methylglutaconic Aciduria Panel

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Genetic testing for 7 genes that are associated with 3-methylglutaconic aciduria.

GENES TESTED:

AUH CLPB DNAJC19 OPA3 SERAC1 TAZ TMEM70

1 gene

Invitae Barth Syndrome Test

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Genetic testing for the TAZ gene, pathogenic variants in which cause Barth syndrome.

GENES TESTED:

TAZ

1 gene

Invitae Biotinidase Deficiency Test

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Genetic testing for the BTD gene, which is associated with biotinidase deficiency—a condition that is characterized seizures, hypotonia, alopecia, and eczema.

GENES TESTED:

BTD

1 gene

Invitae Canavan Disease Test

Order

Genetic testing for the ASPA gene, which is associated with Canavan disease, a condition that is characterized by leukodystrophy, macrocephaly, developmental delay, and hypotonia.

GENES TESTED:

ASPA

1 gene

Invitae Glutaric Acidemia Type I Test

Order

Genetic testing for the GCDH gene, which is associated with glutaric aciduria type I (GA1) and elevated C5-DC on newborn screening (NBS) or acylcarnitine analysis.

GENES TESTED:

GCDH

11 genes

Invitae Combined Methylmalonic Acidemia and Homocystinuria Panel

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Genetic testing for 11 genes that are associated with combined methylmalonic acidemia and homocystinuria.

GENES TESTED:

ABCD4 AMN CD320 CUBN GIF HCFC1 LMBRD1 MMACHC MMADHC TCN1 TCN2

CUBN: Analysis includes the intronic variant NM_001081.3: c.3330-439C>G.

up to 18 genes

Invitae Methylmalonic Acidemia Panel

Order

Genetic testing for up to 18 genes that are associated with methylmalonic acidemia.

GENES TESTED:

Primary Panel:
MCEE MMAA MMAB MMADHC MUT SUCLA2 SUCLG1

Add-on Combined Malonic and Methylmalonic Acidemia Gene:
ACSF3

Pathogenic variants in ACSF3 cause combined malonic and methylmalonic acidemia. In these patients, elevations of methylmalonic acid are usually much greater than malonic acid. Given the biochemical overlap between this disorder and disorders that cause isolated methylmalonic acidemia, this gene can be included at no additional charge.

Add-on Combined Methylmalonic Acidemia and Homocystinuria Genes:
ABCD4 AMN CD320 CUBN GIF HCFC1 LMBRD1 MMACHC TCN1 TCN2

Disorders of cobalamin absorption and transport and well as some disorders of intracellular cobalamin metabolism can cause combined methylmalonic acidemia and homocystinuria. Given the biochemical overlap between these disorders and disorders that cause isolated methylmalonic acidemia, these genes can be included at no additional charge.

CUBN: Analysis includes the intronic variant NM_001081.3: c.3330-439C>G.

up to 6 genes

Invitae Multiple Acyl-CoA Dehydrogenase (MAD) Deficiency Panel

Order

Genetic testing for up to 6 genes that are associated with multiple acyl-CoA dehydrogenase (MAD) deficiency, which can cause metabolic acidosis, hypotonia, seizures, hypoglycemia, hyperammonemia, and a sweaty-sock odor.

GENES TESTED:

Primary Panel:
ETFA ETFB ETFDH

Add-on Riboflavin Transporter Deficiency Genes:
SLC52A1 SLC52A2 SLC52A3

Patients with riboflavin transporter deficiency can have elevations on plasma acylcarnitine analysis similar to patients with MAD deficiency. Given the biochemical overlap between riboflavin transporter deficiency and MAD deficiency, analyzing these genes may be appropriate. These genes can be included at no additional charge.

2 genes

Invitae Multiple Carboxylase Deficiency Panel

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Genetic testing for the BTD and HLCS genes associated with multiple carboxylase deficiency, which can cause metabolic decompensation, metabolic acidosis, seizures, alopecia, and skin findings.

GENES TESTED:

BTD HLCS

up to 9 genes

Invitae Propionic Acidemia Panel

Order

Genetic testing for genes that are associated with propionic acidemia (PPA), an organic acidemia that causes metabolic acidosis with encephalopathy and often results in neurologic impairment and possible cardiomyopathy.

GENES TESTED:

Primary Panel:
PCCA PCCB

Add-on Methylmalonic Acidemia Genes:
MMAA MMAB MMACHC MMADHC MUT

Methylmalonic acidemia (MMA) is caused by an enzyme or cofactor-related defect in the propionate metabolic pathway, but downstream of propionyl-CoA carboxylase. Patients with severe MMA can get a backlog of propionate metabolism intermediates and can have similar findings on biochemical analyses as well as overlapping clinical features. Analyzing the genes associated with MMA may also be appropriate. These genes can be included at no additional charge.

Add-on Multiple Carboxylase Deficiency Genes:
BTD HLCS

Propionyl-CoA carboxylase (PCC) is a biotin-dependent enzyme. Consequently, individuals with biotin metabolism disorders can develop impaired PCC activity, causing elevated PPA metabolites on biochemical analysis. Analyzing the genes associated with multiple carboxylase deficiency may also be appropriate. These genes can be included at no additional charge.

2 genes

Invitae Adult Refsum Disease Panel

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Genetic testing for the PHYH and PEX7 genes which are associated with adult Refsum disease, a peroxisomal disorder typically associated by accumulation of phytanic acid and clinical findings including retinitis pigmentosa, anosomia, neuropathy and ataxia.

GENES TESTED:

PEX7 PHYH

3 genes

Invitae Rhizomelic Chondrodysplasia Punctata Spectrum Panel

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Genetic testing for 3 genes which are associated with rhizomelic chondrodysplasia punctata (RCDP), a spectrum of peroxisome biogenesis disorders characterized by rhizomelic shortening of the upper extremities, contractures, bilateral congenital cataracts, dysmorphic facial features, seizures, severe growth and developmental delay.

GENES TESTED:

AGPS GNPAT PEX7

up to 15 genes

Invitae X-Linked Adrenoleukodystrophy Test

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Genetic testing for the ABCD1 gene, which is associated with X-linked adrenoleukodystrophy (X-ALD), a condition that variably affects nervous system white matter and the adrenal cortex.

GENES TESTED:

Primary Panel:
ABCD1

Add-on Peroxisomal Acyl-CoA Oxidase (ACOX1) Deficiency Gene:
ACOX1

Patients with ACOX1 deficiency have the same pattern of biochemical abnormalities as patients with X-ALD such as elevated very long chain fatty acids with normal phytanic acid, pristanic acid, pipecolic acid, plasmalogens, and THCA/DHCA ratio. Given the significant biochemical overlap between X-ALD and ACOX1 deficiency, analyzing the ACOX1 gene may be appropriate. This gene can be included at no additional charge.

Add-on Elevated Very Long Chain Fatty Acids Genes:
HSD17B4 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6

Patients with other peroxisomal disorders can have elevations of very long chain fatty acids, similar to patients with X-ALD, despite having additional biochemical abnormalities that distinguish these disorders. Given the biochemical overlap between X-ALD and other disorders that may cause elevated very long chain fatty acids, analyzing these genes may be appropriate. These genes can be included at no additional charge.

15 genes

Invitae Zellweger Spectrum Disorder Panel

Order

Genetic testing for 15 genes associated with Zellweger spectrum disorder (ZSD).

GENES TESTED:

ACOX1 AMACR HSD17B4 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6

up to 10 genes

Invitae Purine Metabolism Disorders Panel

Order

Genetic testing for up to 10 genes that are associated with disorders of purine metabolism.

GENES TESTED:

Primary Panel:
ADA ADSL AMPD1 GPHN HPRT1 MOCOS MOCS1 PNP XDH

Add-on Sulfite Oxidase Deficiency Gene:
SUOX

The enzymes encoded by the GPHN and MOCS1 genes are required for molybdenum cofactor (MoCo) synthesis. MoCo is a cofactor required for the functioning of xanthine dehydrogenase. Biallelic pathogenic mutations in one of these three genes result in MoCo deficiency and lead to xanthine dehydrogenase deficiency. MoCo deficiency and sulfite oxidase deficiency are clinically similar. Both disorders show elevated urinary sulfite, accumulation of sulfocysteine, and elevated levels of thiosulfate as well as taurine. Other biochemical features can distinguish these disorders, but given the clinical and partial biochemical overlap of these conditions, the analysis of SUOX may be appropriate. This gene can be added at no additional charge.

1 gene

Invitae Lesch-Nyhan Syndrome Test

Order

Genetic testing for the HPRT1 gene, the gene that is associated with Lesch-Nyhan syndrome, which results from hypoxanthine-guanine phosphoribosyltransferase deficiency.

GENES TESTED:

HPRT1

up to 4 genes

Invitae 2-Ketoglutarate Dehydrogenase Deficiency Panel

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Genetic testing for up to 4 genes that are associated with 2-ketoglutarate dehydrogenase (2-KDH) deficiency, which can cause symptoms including metabolic acidosis, developmental delay, hypotonia, ataxia, opisthotonos and, less commonly, seizures and extrapyramidal dysfunction.

GENES TESTED:

Primary Panel:
DLD OGDH SLC25A19

Add-on Alpha-ketoadipic Acid Dehydrogenase Deficiency Gene:
DHTKD1

The DHTKD1 gene encodes the alpha-ketoadipic acid dehydrogenase (KAADH), a protein homolog of the alpha-ketoglutarate dehydrogenase, defining the KAADH complex as an alpha-ketoacid dehydrogenase complex . The KAADH complex functions in the catabolic pathway of lysine, hydroxylysine, and tryptophan. Defects in this protein have been suggested to lead to an increase excretion of alpha-ketoadipic acid and alpha-aminoadipic acid.

2-KDH deficiency and KAADH deficiency share overlapping general features including metabolic acidosis, hypotonia, and seizures. This gene can be added at no additional charge.

1 gene

Invitae Citrate Transporter Deficiency Test

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Genetic testing for the SLC13A5 gene which is associated with a form of early infantile epileptic encephalopathy caused by citrate transporter deficiency.

GENES TESTED:

SLC13A5

1 gene

Invitae Dihydrolipoamide Dehydrogenase Deficiency Test

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Genetic testing for the DLD gene which is associated with dihydrolipoamide dehydrogenase (DLD) deficiency.

GENES TESTED:

DLD

1 gene

Invitae Fumarase Deficiency Test

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Genetic testing for the FH gene which is associated with fumarase deficiency, an enzyme in the Krebs cycle which drives energy production in mitochondria.

GENES TESTED:

FH

1 gene

Invitae Pyruvate Carboxylase Deficiency Test

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Genetic testing for the PC gene which is associated with pyruvate carboxylase deficiency.

GENES TESTED:

PC

PC: Analysis includes the intronic variant NM_000920.3:c.1369-29A>G.

8 genes

Invitae Pyruvate Dehydrogenase Deficiency Panel

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Genetic testing for 8 genes associated with pyruvate dehydrogenase (PDH) deficiency, which can cause severe neonatal lactic acidosis, Leigh’s encephalopathy, developmental delays, hypotonia, seizures, and ataxia.

GENES TESTED:

DLAT DLD LIAS MPC1 PDHA1 PDHB PDHX PDP1

up to 133 genes

Invitae Treatable Neurometabolic Disorders Panel

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Genetic testing for genes that are associated with treatable inherited neurometabolic disorders.

GENES TESTED:

Primary Panel:
ABCD1 ACAT1 AGA ALDH5A1 ALDH7A1 AMN AMT ARG1 ARSA ASL ASS1 ATP7A ATP7B AUH BCKDHA BCKDHB BTD CBS CLN2 (TPP1) CP CPS1 CUBN CYP27A1 DBT DHCR7 DLAT DLD ETFA ETFB ETFDH ETHE1 GAMT GATM GCDH GCH1 GCSH GIF GLA GLDC GLUD1 GUSB HLCS HMGCL HMGCS2 HSD17B10 IDS IDUA IVD LIPA LMBRD1 MAN2B1 MCCC1 MCCC2 MMAA MMAB MMACHC MMADHC MOCS1 MTHFR MTR MTRR MUT NAGS NPC1 NPC2 OTC OXCT1 PAH PANK2 PCBD1 PCCA PCCB PDHA1 PDHB PDHX PDP1 PHGDH PNPO PPM1K PSAT1 PSPH PTS QDPR SGSH SLC19A3 SLC25A13 SLC25A15 SLC2A1 SLC6A8 SPR TAT TH

CUBN: Analysis includes the intronic variant NM_001081.3: c.3330-439C>G.
GLA: Analysis includes the intronic variant NM_000169.2:c.IVS4+919G>A.
MTRR: Analysis includes the intronic variant NM_002454.2:c.903+469T>C.
OTC: Analysis includes the intronic variant NM_000531.5:c.540+265G>A.
PSPH: Deletion/duplication and sequencing analysis is not offered for exons 4-5 (NM_004577.3).

Add-on Neurometabolic Conditions Genes:
ABAT ADSL AP1S1 ATP13A2 BCKDK C19orf12 CLN3 CLN5 CLN6 CLN8 COASY CTSD D2HGDH DBH DCAF17 DDC FA2H FTL GAD1 GNS GPHN HEXA HEXB HGSNAT HPRT1 IDH2 KCTD7 L2HGDH MAOA MFSD8 MOCOS NAGLU PLA2G6 POLG PPT1 SLC13A5 SLC33A1 SLC6A3 SUOX WDR45 XDH

Although these neurometabolic disorders are not considered to be treatable, they have symptoms that overlap with the disorders on the primary panel such as intellectual disability, seizures, ataxia, dystonia, and other neurologic symptoms. Given the phenotypic overlap, analyzing the genes associated with other neurometabolic conditions may be appropriate. These genes can be included at no additional charge.

CLN3: Analysis includes the intronic variant NM_001042432.1; c.461-13G>C.
DDC: Deletion/duplication analysis is not offered for exons 10-11 (NM_000790.3).
PPT1: Analysis includes the large, mostly intronic deletion NM_000310.3:c.124+1215_235-102del3627 as well as the intronic variant NM_000310.3:c.125-15T>G.

1 gene

Invitae Biotin-Thiamine-Responsive Basal Ganglia Disease (BTBGD) Test

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Genetic testing for the SLC19A3 gene, which is associated with biotin-thiamine-responsive basal ganglia disease (BTBGD), a condition that is characterized by recurrent encephalopathy.

GENES TESTED:

SLC19A3

up to 15 genes

Invitae Urea Cycle Disorders Panel

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Genetic testing for up to 15 genes that encode the enzymes and transporter proteins involved in the biochemical reactions of the urea cycle.

GENES TESTED:

Primary Panel:
ALDH18A1 ARG1 ASL ASS1 CPS1 NAGS OAT OTC SLC25A13 SLC25A15

OTC: Analysis includes the intronic variant NM_000531.5:c.540+265G>A.

Add-on Hyperammonemia Genes:
CA5A GLUD1 GLUL SLC7A7

Pathogenic variants in these genes can also cause hyperammonemia; carbonic anhydrase deficiency (CA5A), glutamate dehydrogenase deficiency (GLUD1), glutamine synthetase deficiency (GLUL), and lysinuric protein intolerance (SLC7A7). These genes can be added at no extra charge.

Add-on Hereditary Orotic Aciduria Gene:
UMPS

Hereditary orotic aciduria is a disorder characterized by massive excretions of orotic acid in the urine, megaloblastic anemia, failure to thrive, growth retardation and psychomotor disability, Given the overlap of orotic aciduria with some conditions of the urea cycle, it may be appropriate to analyze this gene, particularly in a neonate. This gene can be added at no additional charge.

1 gene

Invitae Arginase Deficiency Test

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Genetic testing for the ARG1 gene, which is associated with arginase deficiency.

GENES TESTED:

ARG1

up to 4 genes

Invitae Ornithine Transcarbamylase (OTC) Deficiency Test

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Genetic testing for the OTC gene which is associated with ornithine transcarbamylase (OTC) deficiency, the most common urea cycle defect.

GENES TESTED:

Primary Panel:
OTC

OTC: Analysis includes the intronic variant NM_000531.5:c.540+265G>A.

Add-on Hereditary Orotic Aciduria Gene:
UMPS

Hereditary orotic aciduria is a disorder characterized by massive excretions of orotic acid in the urine, megaloblastic anemia, failure to thrive, growth retardation and psychomotor disability, Given the overlap of orotic aciduria with OTC deficiency, it may be appropriate to analyze this gene, particularly in a neonate. This gene can be added at no additional charge.

Add-on Low Citrulline Genes:
CPS1 NAGS

Carbomylphosphate synthetase (CPS1) deficiency and N-acetylglutamate synthase (NAGS) deficiency are 2 disorders in the urea cycle that can cause low citrulline levels similar to OTC deficiency. However, these disorders do not cause elevations in orotic acid. Given the similarity of low citrulline with all three conditions and ability to test all three genes at the same time instead of sequentially to potentially speed up diagnosis, these genes can be added at no additional charge.

Gene
A
Synonym(s): GABA-AT; GABAT; NPD009

The ABAT gene is associated with autosomal recessive GABA-transaminase (GABA-T) deficiency (PMID: 20052547).

Synonym(s): ABC42; ALD; ALDP; AMN

The ABCD1 gene is associated with X-linked adrenoleukodystrophy (ALD) (MedGen UID: 57667).

Synonym(s): ABC41; EST352188; MAHCJ; P70R; P79R; PMP69; PXMP1L

The ABCD4 gene is associated with autosomal recessive methylmalonic aciduria with homocystinuria due to cobalamin J (cblJ) deficiency (PMID: 22922874).

Synonym(s): STSL

The ABCG5 gene is associated with autosomal recessive sitosterolemia (STSL) (MedGen UID: 87466).

Synonym(s): GBD4; STSL

The ABCG8 gene is associated with autosomal recessive sitosterolemia (STSL) (MedGen UID: 87466).

Synonym(s): ACAD-8; ARC42

The ACAD8 gene is associated with autosomal recessive isobutyryl-CoA dehydrogenase deficiency (MedGen UID: 370754).

Synonym(s): ACAD1; MCAD; MCADH

The ACADM gene is associated with autosomal recessive medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MedGen UID: 65086).

Synonym(s): ACAD3; SCAD

The ACADS gene is associated with autosomal recessive short chain acyl-CoA dehydrogenase (SCAD) deficiency (MedGen UID: 90998), a biochemical phenotype which may or may not result in a clinical condition.

Synonym(s): 2-MEBCAD; ACAD7; SBCAD

The ACADSB gene is associated with autosomal recessive Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency, also known as 2-methylbutyryl-CoA dehydrogenase deficiency (MedGen UID: 355324).

Synonym(s): ACAD6; LCACD; VLCAD

The ACADVL gene is associated with autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (MedGen UID: 87459).

Synonym(s): ACAT; MAT; T2; THIL

The ACAT1 gene is associated with autosomal recessive beta-ketothiolase deficiency (aka mitochondrial acetoacetyl-CoA thiolase deficiency) (MedGen UID: 280689).

Synonym(s): ACOX; PALMCOX; SCOX

The ACOX1 gene is associated with autosomal recessive peroxisomal acyl-CoA oxidase deficiency (also known as pseudoneonatal adrenoleukodystrophy) (MedGen UID: 376636).

The ACSF3 gene is associated with autosomal recessive combined malonic and methylmalonic aciduria (CMAMMA) (PMID: 21841779).

ADA

The ADA gene is associated with autosomal recessive severe combined immunodeficiency (SCID) due to adenosine deaminase deficiency (MedGen UID: 354935).

Synonym(s): AMPS; ASASE; ASL

The ADSL gene is associated with autosomal recessive adenylosuccinate lyase (ADSL) deficiency (MedGen UID: 78641).

AGA
Synonym(s): AGU; ASRG; GA

The AGA gene is associated with autosomal recessive aspartylglucosaminuria (AGU) (MedGen UID: 78649).

AGL
Synonym(s): GDE

The AGL gene is associated with autosomal recessive glycogen storage disease type III (GSD III) (MedGen UID: 6641).

Synonym(s): ADAP-S; ADAS; ADHAPS; ADPS; ALDHPSY; RCDP3

The AGPS gene is associated with autosomal recessive rhizomelic chondrodysplasia punctata type 3 (RCDP3) (MedGen UID: 374012).

Synonym(s): SAHH; adoHcyase

The AHCY gene is associated with autosomal recessive hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (MedGen UID 462408).

Synonym(s): ADCL3; ARCL3A; GSAS; P5CS; PYCS; SPG9A; SPG9B

The ALDH18A1 gene is associated with autosomal dominant and recessive forms of cutis laxa (ADCL3 and ARCL3A, respectively) (MedGen UID: 851795, 82794) and spastic paraplegia (SPG9A and SPG9B, respectively) (MedGen UID: 322007, 851785). The ALDH18A1 gene is also associated with autosomal recessive pyrroline-5-carboxylate synthase (P5CS) deficiency (PMID: 11092761).

Synonym(s): ALDH4; P5CD; P5CDh

The ALDH4A1 gene is associated with autosomal recessive hyperprolinemia type II (MedGen UID: 78688).

Synonym(s): Mitochondrial succinate semialdehyde dehydrogenase; NAD(+)-dependent succinic semialdehyde dehydrogenase; SSADH; SSDH

The ALDH5A1 gene is associated with autosomal recessive succinic semialdehyde dehydrogenase (SSADH) deficiency (MedGen UID: 124340).

Synonym(s): ATQ1; EPD; PDE

The ALDH7A1 gene is associated with autosomal recessive pyridoxine-dependent epilepsy (MedGen UID: 340341).

Synonym(s): ALDA; GSD12; HEL-S-87p

The ALDOA gene is associated with autosomal recessive aldolase A deficiency (MedGen UID: 82895).

Synonym(s): ALDB; ALDO2

The ALDOB gene is associated with autosomal recessive hereditary fructose intolerance (MedGen UID 42105).

Synonym(s): HMAT1; HMT-1; CDG1K; HMT1; MT-1; Mat-1; hMat-1

ALG1 is associated with autosomal recessive ALG1-congenital disorder of glycosylation (CDG-Ik) (MedGen UID 332969).

Synonym(s): GT8; CDG1P

ALG11 is associated with autosomal recessive ALG11-congenital disorder of glycosylation (CDG-Ip) (MedGen UID 462263).

Synonym(s): CDG1G; ECM39; hALG12; PP14673

ALG12 is associated with autosomal recessive ALG12-congenital disorder of glycosylation (CDG-Ig) (MedGen UID 375947).

Synonym(s): CDG1S; MDS031; TDRD13; CXorf45; GLT28D1; YGL047W; EIEE36

The ALG13 gene is associated with the X-linked congenital disorder of glycosylation ALG13-CDG (CDG-Is) (MedGen UID 763818).

Synonym(s): CMS15

The ALG14 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome 15 (CMS15) (MedGen UID: 830988).

Synonym(s): CDGIi; FLJ14511; hALPG2; NET38; CMS14; CMSTA3

The ALG2 gene is associated with autosomal recessive congenital myasthenic syndrome 14 (CMS14) (MedGen UID: 831266). Additionally, the ALG2 gene has preliminary evidence supporting a correlation with autosomal recessive ALG2-congenital disorder of glycosylation (CDG-Ii).

Synonym(s): CDG1D; CDGS4; CDGS6; D16Ertd36e; NOT56L; Not56; not

ALG3 is associated with autosomal recessive ALG3-congenital disorder of glycosylation (CDG-Id) (MedGen UID 322026).

Synonym(s): CDG1C

ALG6 is associated with autosomal recessive ALG6-congenital disorder of glycosylation (CDG-Ic) (MedGen UID 400469).

Synonym(s): MGC2840; CDG1H

ALG8 is associated with autosomal recessive ALG8-congenital disorder of glycosylation (CDG-Ih) (MedGen UID 374956).

Synonym(s): CDG1L; DIBD1; LOH11CR1J; GIKANIS

ALG9 is associated with autosomal recessive ALG9-congenital disorder of glycosylation (CDG-IL) (MedGen UID 324794).

Synonym(s): AMACRD; CBAS4; RACE; RM

The AMACR gene is associated with autosomal recessive alpha-methylacyl-CoA racemase deficiency (AMACRD) (MedGen UID: 348911) and congenital bile acid synthesis defect 4 (CBAS4) (MedGen UID: 388039).

AMN
Synonym(s): PRO1028; amnionless

The AMN gene is associated with autosomal recessive megaloblastic anemia 1 (MGA1) (MedGen UID: 224934).

Synonym(s): AMP deaminase; Myoadenylate deaminase; MAD; MADA; MMDD

The AMPD1 gene is associated with autosomal recessive muscle AMP deaminase deficiency (MMDD) (MedGen UID: 78640).

AMT
Synonym(s): GCE; GCST; GCVT; NKH

The AMT gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625).

Synonym(s): AP19; CLAPS1; EKV3; MEDNIK; SIGMA1A

The AP1S1 gene is associated with autosomal recessive intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma, also known as MEDNIK syndrome (MedGen UID: 833683).

The ARG1 gene is associated with autosomal recessive arginase deficiency (MedGen UID: 78688).

Synonym(s): COLLYBISTIN; EIEE8; HPEM-2; PEM-2; PEM2

The ARHGEF9 gene is associated with X-linked recessive hereditary hyperekplexia / early infantile epileptic encephalopathy 8 (EIEE8) (MedGen UID: 375581).

Synonym(s): MLD

The ARSA gene is associated with autosomal recessive metachromatic leukodystrophy (MLD) (MedGen UID: 6071).

Synonym(s): ASB; G4S; MPS6

The ARSB gene is associated with autosomal recessive mucopolysaccharidosis type VI (MPS VI, also known as Maroteaux-Lamy) (MedGen UID: 44514).

Synonym(s): AC; ACDase; ASAH; PHP; PHP32; SMAPME

The ASAH1 gene is associated with autosomal recessive Farber lipogranulomatosis (FRBRL) (MedGen UID: 78654) and Jankovic Rivera syndrome (SMAPME) (MedGen UID: 371854).

ASL
Synonym(s): ASAL

The ASL gene is associated with autosomal recessive argininosuccinate lyase deficiency (MedGen UID: 78687).

Synonym(s): ACY2; ASP

The ASPA gene is associated with autosomal recessive Canavan disease (MedGen UID: 61565).

Synonym(s): ASS; CTLN1

The ASS1 gene is associated with autosomal recessive citrullinemia type 1 (MedGen UID: 104491).

Synonym(s): CLN12; HSA9947; KRPPD; PARK9

The ATP13A2 gene is associated with autosomal recessive Kufor-Rakeb syndrome (KRS) (MedGen UID: 338281), also known as Parkinson’s disease 9 (PARK9). Additionally, the ATP13A2 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (MedGen UID:909889) and neuronal ceroid lipofuscinoses (PMID: 22388936).

Synonym(s): A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7; RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS

ATP6V0A2 is associated with autosomal recessive ATP6V0A2-associated cutis laxa type 2 (ATP6V0A2-CDG) (MedGen UID 324794).

Synonym(s): DSMAX; MK; MNK; SMAX3

The ATP7A gene is associated with X-linked Menkes disease (MedGen UID: 44030), occipital horn syndrome (OHS) (MedGen UID: 82793) and distal hereditary motor neuropathy (HMN) (MedGen UID: 335168).

Synonym(s): PWD; WC1; WD; WND

The ATP7B gene is associated with autosomal recessive Wilson Disease (MedGen UID: 42426).

AUH

The AUH gene is associated with autosomal recessive 3-methylglutaconic aciduria type 1 (MedGen UID: 473073).

B
Synonym(s): B3GalNAc-T2; MDDGA11

The B3GALNT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A11 (MDDGA11) (MedGen UID: 767552).

Synonym(s): GALACTOSYLTRANSFERASE II; GALTII; BETA-1; 3-GALACTOSYLTRANSFERASE 6; BETA-3-GALT6; EDSP2; SEMDJL1; beta3GalT6

The B3GALT6 gene is associated with autosomal recessive spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) (MedGen UID: 98148) and Ehlers-Danlos syndrome progeroid type 2 (EDSP2) (MedGen UID: 815540).

Synonym(s): GLCATI; JDSCD; glcUAT-I

The B3GAT3 gene is associated with the autosomal recessive syndrome multiple joint dislocations, short stature and craniofacial dysmorphism with or without congential heart defects (JDSCD) (MedGen UID: 383706).

Synonym(s): B3GALTL; B3GTL; B3Glc-T; Gal-T; beta3Glc-T

The B3GLCT gene is associated with autosomal recessive Peters-plus syndrome also known as B3GLCT-congenital disorder of glycosylation (Medgen UID: 163204).

Synonym(s): GALGT; GALNACT; GalNAc-T; SPG26

The B4GALNT1 gene is associated with autosomal recessive hereditary spastic paraplegia 26 (SPG26) (PMID: 23746551).

Synonym(s): GT1; GTB; CDG2D; GGTB2; B4GAL-T1; beta4Gal-T1; Galactosyltransferase 1

The B4GALT1 gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive B4GALT1-CDG (CDG-IId) (PMID: 11901181).

Synonym(s): EDSP1; EDSSLA; XGALT1; XGPT1

The B4GALT7 gene is associated with autosomal recessive Ehlers-Danlos syndrome (EDS) with short stature and limb anomalies, also known as Ehlers-Danlos syndrome, progeroid form (MedGen UID: 358390).

Synonym(s): B3GNT1; B3GN-T1; B3GNT6; BETA3GNTI; MDDGA13; iGAT; iGNT

The B4GAT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A13 (MDDGA13) (MedGen UID: 815372).

Synonym(s): branched chain keto acid dehydrogenase E1; alpha polypeptide; BCKDE1A; BCKDH E1-alpha; MSUD1; MSU; OVD1A

The BCKDHA gene is associated with autosomal recessive maple syrup urine disease (MSUD) (MedGen UID: 6217).

Synonym(s): BCKDE1B; BCKDH E1-beta; E1B

The BCKDHB gene is associated with autosomal recessive maple syrup urine disease (MSUD) (MedGen UID: 6217).

Synonym(s): BCKDKD; BDK

The BCKDK gene is associated with autosomal recessive branched-chain ketoacid dehydrogenase kinase deficiency (BCKDK deficiency) (MedGen UID: 766992).

BTD

The BTD gene is associated with autosomal recessive biotinidase deficiency (MedGen UID: 66323).

C
Synonym(s): NBIA3; NBIA4; SPG43

The C19ORF12 gene is associated with autosomal recessive neurodegeneration with brain iron accumulation 4(NBIA4) (MedGen UID: 482001). Additionally, the C19ORF12 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia 43 (SPG43) (MedGen UID: 760531).

Synonym(s): C1GALT2; C38H2-L1; COSMC; HSPC067; MST143; TNPS

The C1GALT1C1 gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with acquired Tn polyagglutination syndrome (PMID: 16251947, 18537974).

Synonym(s): CA5; CA5AD; CAV; CAVA; GS1-21A4.1

The CA5A gene is associated with autosomal recessive hyperammonemia due to carbonic anhydrase VA deficiency (MedGen UID: 816734; PMID: 26913920).

CBS
Synonym(s): HIP4

The CBS gene is associated with autosomal recessive homocystinuria due to cystathionine beta-synthase (CBS) deficiency (MedGen UID: 461694).

Synonym(s): 8D6; 8D6A; TCBLR

The CD320 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive transcobalamin receptor deficiency (PMID: 20524213).

Synonym(s): ABC35; ABCC7; CF; CFTR/MRP; MRP7; TNR-CFTR; dJ760C5.1

The CFTR gene is associated with autosomal recessive cystic fibrosis (MedGen UID: 41393) and congenital bilateral absence of the vas deferens (CBAVD) (MedGen UID: 98021). Additionally, the CFTR gene is associated with an increased risk for chronic pancreatitis (PMID: 17003641, 11729110).

Synonym(s): CHI3; CHIT; CHITD

The CHIT1 gene is associated with chitotriosidase deficiency (MedGen UID: 481532).

Synonym(s): ATCS; D4ST1; EDSMC1; HNK1ST

CHST14 is associated with autosomal recessive CHST14-congenital disorder of glycosylation, also known as musculocontractural type Ehlers-Danlos syndrome (MedGen UID 356497).

Synonym(s): C6ST; C6ST1; HSD

The CHST3 gene is associated with autosomal recessive spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) (MedGen UID: 374477).

Synonym(s): MCDC1

The CHST6 gene is associated with autosomal recessive macular corneal dystrophy (MedGen UID: 351514).

Synonym(s): CHSY; CSS1; ChSy-1; TPBS

The CHSY1 gene is associated with autosomal recessive temtamy preaxial brachydactyly syndrome (TPBS) (MedGen UID: 381425).

Synonym(s): CLN2; GIG1; LPIC; SCAR7; TPP-1

The CLN2 gene (also known as TPP1) is associated with autosomal recessive neuronal ceroid lipofuscinosis type 2 (MedGen UID: 406281).

Synonym(s): BTN1; BTS; JNCL

The CLN3 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 3 (CLN3) (MedGen UID: 155549).

Synonym(s): NCL

The CLN5 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 5 (CLN5) (MedGen UID: 376792).

Synonym(s): CLN4A; HsT18960; nclf

The CLN6 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 6 (CLN6) (MedGen UID: 356494).

Synonym(s): C8orf61; EPMR

The CLN8 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 8 (CLN8) (MedGen UID: 374004).

Synonym(s): ANKCLB; HSP78; MEGCANN; MGCA7; SKD3

The CLPB gene is associated wtih autosomal recessive 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) (MedGen UID: 833014).

Synonym(s): DPCK; NBIA6; NBP; PPAT; UKR1; pOV-2

The COASY gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive neurodegeneration with brain iron accumulation 6 (NBIA6) (MedGen UID: 816560).

Synonym(s): LDLB; CDG2G; KIAA1381

COG1 is associated with autosomal recessive COG1-congenital disorder of glycosylation (CDG-IIg) (MedGen UID 409970).

Synonym(s): LDLC

The COG2 gene is associated with autosomal recessive COG2-CDG (PMID: 24784932).

Synonym(s): COD1; CDG2J

COG4 is associated with autosomal recessive COG4-congenital disorder of glycosylation (CDG-IIj) (MedGen UID 462086).

Synonym(s): CDG2I; GTC90; GOLTC1

COG5 is associated with autosomal recessive COG5-congenital disorder of glycosylation (CDG-IIi) (MedGen UID 462226).

Synonym(s): COD2; SHNS; CDG2L; KIAA1134

COG6 is associated with autosomal recessive COG6-congenital disorder of glycosylation (CDG-IIL) (MedGen UID 766144, 815490).

Synonym(s): CDG2E

COG7 is associated with autosomal recessive COG7-congenital disorder of glycosylation (CDG-IIe) (MedGen UID 332451).

Synonym(s): DOR1; CDG2H

COG8 is associated with autosomal recessive COG8-congenital disorder of glycosylation (CDG-IIh) (MedGen UID 409971).

CP
Synonym(s): CP-2

The CP gene is associated with autosomal recessive ceruloplasmin deficiency (Med Gen UID: 168057).

Synonym(s): CPSASE1; PHN

The CPS1 gene is associated with autosomal recessive carbamoylphosphate synthetase I (CPS1) deficiency (MedGen UID: 199727).

Synonym(s): CPT1; CPT1-L; L-CPT1

The CPT1A gene is associated with autosomal recessive carnitine palmitoyltransferase I (CPT1) deficiency (MedGen UID: 316820).

Synonym(s): CPT1; CPTASE; IIAE4

The CPTII gene is associated with autosomal recessive carnitine palmitoyltransferase II (CPTII or CPT2) deficiency (MedGen UID: 371584, 322211, 318896).

Synonym(s): CTNS-LSB; PQLC4

The CTNS gene is associated with autosomal recessive cystinosis (MedGen UID: 1207).

Synonym(s): CATHA; PPGB; PPCA; GLB2; PROTECTIVE PROTEIN/CATHEPSIN A; BETA-GALACTOSIDASE PROTECTIVE PROTEIN; CARBOXYPEPTIDASE L; BETA-GALACTOSIDASE 2; GSL; NGBE

The CTSA gene is associated with autosomal recessive galactosialidosis (MedGen UID: 82779).

Synonym(s): CLN10; CPSD; HEL-S-130P

The CTSD gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 10 (CLN10) (MedGen UID: 350481).

Synonym(s): CATSF; CLN13

The CTSF gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 13 (CLN13), also known as Kufs disease (MedGen UID: 811566). Additionally, the CTSF gene has preliminary evidence supporting a correlation with frontotemporal dementia (PMID: 27668283).

Synonym(s): Cathepsin K; CTSO; CTSO2; PYCD; PKND; Cathepsin O; Cathepsin X; CTS02; CTSO1

The CTSK gene is associated with autosomal recessive pycnodysostosis (PKND) (MedGen UID: 116061).

Synonym(s): IFCR; MGA1; gp280

The CUBN gene is associated with autosomal recessive megaloblastic anemia 1 (MGA1, also known as Imerslund-Gräsbeck syndrome) (MedGen UID: 224934).

Synonym(s): CP27; CTX; CYP27

The CYP27A1 gene is associated with autosomal recessive cerebrotendinous xanthomatosis (CTX) (MedGen UID: 116041).

D
Synonym(s): D2HGD

The D2HGDH gene is associated with autosomal recessive D-2-hydroxyglutaric aciduria (MedGen UID: 463405).

DBH
Synonym(s): DBM

The DBH gene is associated with autosomal recessive dopamine beta-hydroxylase deficiency (MedGen UID: 341722).

DBT
Synonym(s): BCATE2; BCKAD-E2; BCKADE2; BCOADC-E2; E2; E2B

The DBT gene is associated with autosomal recessive maple syrup urine disease (MSUD) (MedGen UID: 6217).

Synonym(s): C2orf37

The DCAF17 gene is associated with autosomal recessive Woodhouse-Sakati syndrome (WSS) (MedGen UID: 83337).

DDC
Synonym(s): Aromatic L-amino acid decarboxylase; Dopa decarboxylase (aromatic L-amino acid decarboxylase); AADC

The DDC gene is associated with autosomal recessive aromatic L-amino acid decarboxylase (AADC) deficiency (MedGen UID: 220945).

Synonym(s): OST; OST48; Oligosaccharyltransferase 48KD; KIAA0115; WBP1; AGER1; CDG1R; OKSWcl45

The DDOST gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive DDOST-congenital disorder of glycosylation (CDG-Ir) (PMID: 22305527).

Synonym(s): DECR; NADPH; SDR18C1

The DECR1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive 2,4-Dienoyl-CoA reductase 1 deficiency (PMID: 2332510).

Synonym(s): SLOS

The DHCR7 gene is associated with autosomal recessive Smith-Lemli-Opitz syndrome (SLOS) (Medgen UID: 61231).

Synonym(s): CIT; CPT; DS; HDS; RP59

The DHDDS gene is associated with autosomal recessive DHDDS-CDG (also known as retinitis pigmentosa 59) (MedGen UID: 462577).

Synonym(s): AMOXAD; CMT2Q

The DHTKD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive 2-aminoadipic 2-oxoadipic aciduria (AMOXAD) (PMID: 23141293, 25860818; MedGen UID: 395350) and autosomal dominant Charcot-Marie-Tooth disease type 2Q (CMT2Q) (PMID: 23141294; MedGen UID: 767280).

Synonym(s): DLTA; PDC-E2; PDCE2

The DLAT gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive pyruvate dehydrogenase deficiency (PMID: 16049940, 20022530, 23021068).

DLD
Synonym(s): DLDD; DLDH; E3; GCSL; LAD; PHE3

The DLD gene is associated with autosomal recessive dihydrolipoamide dehydrogenase (DLD) deficiency (MedGen UID: 449386).

Synonym(s): PAM18; TIM14; TIMM14

The DNAJC19 gene is associated with autosomal recessive 3-Methylglutaconic aciduria, type V (MedGen UID: 347542).

Synonym(s): CLN4; CLN4B; CSP; DNAJC5A; NCL; mir-941-2; mir-941-3; mir-941-4; mir-941-5

The DNAJC5 gene is associated with autosomal dominant neuronal ceroid lipofuscinosis type 4B (CLN4B) (MedGen UID: 320287).

Synonym(s): CDG1M; DK; DK1; SEC59; TMEM15

The DOLK gene is associated with the autosomal recessive congenital disorder of glycosylation DOLK-CDG (CDG-Im) (MedGen UID 332072).

Synonym(s): ALG7; CDG-Ij; CDG1J; CMS13; CMSTA2; D11S366; DGPT; DPAGT; DPAGT2; G1PT; GPT; UAGT; UGAT

The DPAGT1 gene is associated with autosomal recessive DPAGT1-congenital disorder of glycosylation (CDG-Ij) (MedGen UID: 334113) and congenital myasthenic syndrome 13 (CMS13) (MedGen UID: 766559).

Synonym(s): CDGIE; MPDS

The DPM1 gene is associated with autosomal recessive DPM1-congenital disorder of glycosylation (CDG-Ie) (MedGen UID: 324784).

Synonym(s): CDG1U

The DPM2 gene is associated with autosomal recessive DPM2-congenital disorder of glycosylation (CDG-Iu) (MedGen UID: 767299).

Synonym(s): CDG1O

The DPM3 gene is associated with autosomal recessive DPM3-congenital disorder of glycosylation (CDG-Io) (MedGen UID: 414534).

DSE
Synonym(s): DS-epi1; DSEP; DSEPI; EDSMC2; SART-2; SART2

The DSE gene currently has no well established disease association: however, there is preliminary evidence supporting a correlation with autosomal recessive Ehlers-Danlos syndrome, musculocontractural type 2 (EDSMC2) (PMID: 23704329).

E
Synonym(s): 2-phospho-D-glycerate hydrolyase; Muscle-specific enolase; Skeletal muscle enolase; GSD13; MSE

The ENO3 gene is associated with autosomal recessive glycogen storage disease (GSD) XIII (PMID: 25267339).

Synonym(s): AER61; AOS4; C3orf64; EOGT1

The EOGT gene is associated with autosomal recessive Adams-Oliver syndrome (MedGenUID: 815422).

Synonym(s): EMA; GA2; MADD

The ETFA gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase (MAD) deficiency (also known as glutaric acidemia type II; GA II) (MedGen UID: 75696).

Synonym(s): FP585; MADD

The ETFB gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase (MAD) deficiency (also known as glutaric acidemia type II; GA II) (MedGen UID: 75696).

Synonym(s): MADD; ETFQO; ETF-QO; ETF dehydrogenase; ETF-ubiquinone oxidoreductase

The ETFDH gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase (MAD) deficiency (also known as glutaric acidemia type II; GA II) (MedGen UID: 75696).

Synonym(s): HSCO; YF13H12

ETHE1 is associated with autosomal recessive ethylmalonic encephalopathy (MedGen UID: 355966).

Synonym(s): EXT; LGCR; LGS; TRPS2; TTV

The EXT1 gene is associated with autosomal dominant hereditary multiple osteochondromas (HMO) (MedGen UID: 4612).

Synonym(s): SOTV; SSMS

The EXT2 gene is associated with autosomal dominant hereditary multiple osteochondromatosis (HMO) (MedGen UID: 377018), previously called hereditary multiple exostoses.

F
Synonym(s): FAAH; FAH1; FAXDC1; SCS7; SPG35

The FA2H gene is associated with autosomal recessive hereditary spastic paraplegia 35 (SPG35) (MedGen UID: 777150).

FAH

The FAH gene is associated with autosomal recessive tyrosinemia type 1 (MedGen UID: 75688).

Synonym(s): FBPase 1; Growth-inhibiting protein 17; Liver FBPase; FBP

The FBP1 gene is associated with autosomal recessive fructose-1,6-bisphosphatase (FBPase) deficiency (MedGen UID: 42106).

FH
Synonym(s): MCL; LRCC; HLRCC; MCUL1; FMRD

The FH gene is associated with autosomal dominant hereditary leiomyomatosis and renal cell cancer (HLRCC) (MedGen UID: 353771) and autosomal recessive fumarate hydratase deficiency (FHD) (MedGen UID: 87458). Additionally, the FH gene has preliminary evidence supporting a correlation with autosomal dominant hereditary paraganglioma-pheochromocytoma (PMID: 24334767, 25004247).

Synonym(s): MDC1C; LGMD2I; MDDGA5; MDDGB5; MDDGC5

The FKRP gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A5 (MDDGA5) (MedGen UID:461763), type B5 (MDDGB5) (MedGen UID:335764), and type C5 (MDDGC5) (MedGen UID:339580), and dilated cardiomyopathy (DCM) (MedGen UID:2880).

Synonym(s): FCMD; CMD1X; LGMD2M; MDDGA4; MDDGB4; MDDGC4

The FKTN gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A4 (MDDGA4), also known as Fukuyama congenital muscular dystrophy (FCMD) (MedGen UID: 140820), type B4 (MDDGB4) (MedGen UID: 413465) and type C4 (MDDGC4) (MedGen UID: 370585), and dilated cardiomyopathy (DCM) (MedGen UID: 370583).

Synonym(s): LCHC1

The FTCD gene is associated with autosomal recessive glutamate formiminotransferase deficiency (MedGen UID 82823).

FTL
Synonym(s): LFTD; NBIA3

The FTL gene is associated with autosomal dominant neurodegeneration with brain iron accumulation 3 (NBIA3) (MedGen UID: 381211) and hereditary hyperferritinemia-cataract syndrome (HHCS) (MedGen UID: 318812). Additionally, the FTL gene has preliminary evidence supporting a correlation with L-ferritin deficiency (PMID: 23940258, 15173247).

Synonym(s): FUCA

The FUCA1 gene is associated with autosomal recessive fucosidosis (MedGen UID: 5288)

G
Synonym(s): G6PC1; G6PT; G6Pase; GSD1; GSD1a

The G6PC gene is associated with autosomal recessive glycogen storage disease Ia (GSDIa) (MedGen UID: 433536).

Synonym(s): Glucose-6-phosphatase beta; SCN4; UGRP

The G6PC3 gene is associated with autosomal recessive severe congenital neutropenia (MedGen UID: 436454).

Synonym(s): G6PD1

The G6PD gene is associated with X-linked glucose-6-phosphate dehydrogenase deficiency (MedGen UID: 40355).

GAA
Synonym(s): LYAG

The GAA gene is associated with autosomal recessive glycogen storage disease type II (GSDII), also known as Pompe disease (MedGen UID: 5340).

Synonym(s): CPSQ1; GAD; SCP

The GAD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with spastic quadriplegic cerebral palsy 1 (CPSQ1) (PMID: 15571623).

The GALC gene is associated with autosomal recessive Krabbe disease (MedGen UID: 44131).

Synonym(s): SDR1E1

The GALE gene is associated with autosomal recessive epimerase deficiency Galactosemia (MedGen UID: 199598).

Synonym(s): GK1; GALK; HEL-S-19

The GALK1 gene is associated with autosomal recessive galactokinase galactosemia (MedGen UID: 120614).

Synonym(s): GALNAC6S; GAS; Galactose-6-Sulfate Sulfatase; GalNAc6S Sulfatase; N-Acetylgalactosamine-6-Sulfate Sulfatase; MPS4A; N-Acetylgalactosamine-6-Sulfatase; Chondroitinase; Chondroitinsulfatase; GalN6S

The GALNS gene is associated with autosomal recessive mucopolysaccharidosis type IVA (MPS IVA, also known as Morquio A) (MedGen UID: 43375).

Synonym(s): GalNAc-T3; HFTC; HHS

The GALNT3 gene is associated with autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC) (MedGen UID: 360297)

The GALT gene is associated with autosomal recessive galactosemia (MedGen UID:344772).

Synonym(s): PIG2; TP53I2; CCDS2; HEL-S-20

The GAMT gene is associated with autosomal recessive cerebral creatine deficiency syndrome (MedGen UID: 154356).

Synonym(s): AT; AGAT; Glycine Amidinotransferase (L-Arginine:Glycine Amidinotransferase; L-Arginine:Glycine Amidinotransferase; Glycine Amidinotransferase; Mitochondrial; Transamidinase; CCDS3

The GATM gene is associated with autosomal recessive cerebral creatine deficiency syndrome (MedGen UID: 436367).

Synonym(s): APBD; GBE; GSD4

The GBE1 gene is associated with autosomal recessive glycogen storage disease IV (GSD IV) (MedGen UID: 6642) and autosomal recessive adult polyglucosan body disease (APBD) (MedGen UID: 342338).

Synonym(s): ACAD5; GCD

The GCDH gene is associated with autosomal recessive glutaric acidemia type I (MedGen UID: 124337).

Synonym(s): DYT14; DYT5; DYT5a; GCH; GTP-CH-1; GTPCH1; HPABH4B

The GCH1 gene is associated with autosomal dominant dopa-responsive dystonia (DRD) (MedGen UID: 342121). It is also associated with autosomal recessive GTP cyclohydrolase deficiency (MedGen UID: 75683).

Synonym(s): GCE; NKH

The GCSH gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625).

Synonym(s): CMS12; CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m; GFPT; GFPT1L; MSLG

The GFPT1 gene is associated with autosomal recessive congenital myasthenic syndrome 12 (CMS12) (MedGen UID: 350478).

GIF
Synonym(s): IF; IFMH; INF; TCN3

The GIF gene is associated with autosomal recessive intrinsic factor deficiency (IFD) (MedGen UID: 235598).

GLA
Synonym(s): GALA

The GLA gene is associated with X-linked Fabry disease (MedGen UID: 8083).

Synonym(s): EBP; ELNR1; MPS4B

The GLB1 gene is associated with autosomal recessive GM1 gangliosidosis (MedGen UID: 468425) and mucopolysaccharidosis, type IVB (MPS IVB, also known as Morquio B) (MedGen UID: 43376).

Synonym(s): GCE; GCSP; HYGN1

The GLDC gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625).

Synonym(s): HKPX1; STHE

The GLRA1 gene is associated with autosomal dominant and autosomal recessive hyperekplexia 1 (HKPX1) (MedGen UID: 332019).

Synonym(s): HKPX2

The GLRB gene is associated with autosomal recessive hyperekplexia 2 (HKPX2) (MedGen UID: 766205).

Synonym(s): GDH; GDH1; GLUD

The GLUD1 gene is associated with autosomal dominant familial hyperinsulinemic hygoglycemia and hyperammonemia (HI/HA) syndrome (MedGen UID: 376153).

Synonym(s): GLNS; GS; PIG43; PIG59

The GLUL gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive congenital glutamine deficiency (PMID: 16267323, 21353613).

Synonym(s): GM2 ACTIVATOR; GM2-AP; SAP-3

The GM2A gene is associated with autosomal recessive GM2-gangliosidosis, AB variant (MedGen UID: 78657).

Synonym(s): AAMR

The GMPPA gene is associated with autosomal recessive GMPPA-CDG (also known as alacrima, achalasia and intellectual disability syndrome [AAID]) (MedGen UID: 816068).

Synonym(s): MDDGA14; MDDGB14; MDDGC14

The GMPPB gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A14 (MDDGA14) (MedGen UID: 815546), type B14 (MDDGB14) (MedGen UID: 815551) and type C14 (MDDGC14) (MedGen UID: 811507). Additionally, the GMPPB gene has preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome (CMS) (PMID: 26133662).

GNE
Synonym(s): DMRV; GLCNE; IBM2; NM; Uae1

The GNE gene is associated with autosomal recessive GNE-related myopathy (MedGen UID: 322174) and autosomal dominant sialuria (MedGen UID: 137980).

Synonym(s): HEL-S-182mP

The GNMT gene is associated with autosomal recessive glycine N-methyltransferase (GNMT) deficiency (MedGen UID: 338300).

Synonym(s): DAP-AT; DAPAT; DHAPAT; RCDP2

The GNPAT gene is associated with autosomal recessive rhizomelic chondrodysplasia punctata type 2 (RCDP2) (MedGen UID: 341734).

Synonym(s): GNPTA; ICD

The GNPTAB gene is associated with autosomal recessive mucolipidosis type II alpha/beta (ML II) (MedGen UID: 435914) and mucolipidosis type III alpha/beta (ML III) (MedGen UID: 10988). These conditions were formerly called Inclusion cell disease (I-cell disease) and Pseudo-Hurler Polydystrophy, respectively.

Synonym(s): C16orf27; GNPTAG; LP2537; RJD9

The GNPTG gene is associated with autosomal recessive mucolipidosis type III gamma (ML III gamma) (MedGen UID: 340743).

GNS
Synonym(s): G6S

The GNS gene is associated with autosomal recessive mucopolysaccharidosis type IIID (MPS IIID or Sanfilippo D) (MedGen UID: 88602).

Synonym(s): GEPH; GPH; GPHRYN; HKPX1; MOCODC

The GPHN gene is associated with autosomal recessive molybdenum cofactor deficiency complementation group C (MOCODC) (MedGen UID: 340761). Additionally, the GPHN gene has preliminary evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (EIEE) (PMID: 26613940, 24561070).

GRN
Synonym(s): CLN11; GEP; GP88; PCDGF; PEPI; PGRN

The GRN gene is associated with autosomal dominant GRN-related frontotemporal dementia (FTD-GRN) (MedGen UID: 375285) and autosomal recessive neuronal ceroid lipofuscinosis type 11 (CLN11) (MedGen UID: 761331).

GSS
Synonym(s): GSHS; HEL-S-64p; HEL-S-88n

The GSS gene is associated with autosomal recessive glutathione synthetase deficiency (MedGen UID: 97988).

Synonym(s): BG; MPS7

The GUSB gene is associated with autosomal recessive mucopolysaccharidosis type VII (MPS7, also known as Sly syndrome) (MedGen UID: 43108).

Synonym(s): GSD15; GYG

The GYG1 gene is associated with autosomal recessive polyglucosan body myopathy 2 (PGBM2) (MedGen UID: 830643) and autosomal recessive glycogen storage disease XV (GSD XV) (MedGen UID: 462104, PMID: 25272951).

Synonym(s): GSY; GYS

The GYS1 gene is associated with autosomal recessive glycogen synthase deficiency, muscle type (GSD0, muscle form) (MedGen UID: 409741).

The GYS2 gene is associated with autosomal recessive liver glycogen synthase deficiency (GSD0, liver isoform) (MedGen UID: 343430).

H
Synonym(s): HAD; HADH1; HADHSC; HCDH; HHF4; MSCHAD; SCHAD

The HADH gene is associated with autosomal recessive medium/short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD) (MedGen UID: 266222).

Synonym(s): ECHA; GBP; HADH; LCEH; LCHAD; MTPA; TP-ALPHA

The HADHA gene is associated with autosomal recessive long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency (MedGen UID: 442134) and autosomal recessive mitochondrial trifunctional protein deficiency (MedGen UID: 87460).

Synonym(s): ECHB; MSTP029; MTPB; TP-BETA

The HADHB gene is associated with autosomal recessive mitochondrial trifunctional protein deficiency (MedGen UID: 87460).

Synonym(s): CFF; HCF; HCF-1; HCF1; HFC1; MRX3; PPP1R89; VCAF

The HCFC1 gene is associated with X-linked recessive methylmalonic acidemia and homocysteinemia, cblX type, also known as X-linked intellectual disability 3 (IDX3) (MedGen UID: 167111).

Synonym(s): TSD

The HEXA gene is associated with autosomal recessive hexosaminidase A (HEXA) deficiency, also known as Tay-Sachs disease (MedGen UID: 11713).

Synonym(s): ENC-1AS; HEL-248; HEL-S-111

The HEXB gene is associated with autosomal recessive Sandhoff disease (MedGen UID: 11313).

HGD
Synonym(s): AKU; HGO

The HGD gene is associated with autosomal recessive alkaptonuria (AKU) (MedGen UID: 1413).

Synonym(s): HGNAT; MPS3C; RP73; TMEM76

The HGSNAT gene is associated with autosomal recessive mucopolysaccharidosis type IIIC (MPS IIIC or Sanfilippo C) (MedGen UID: 39477) and retinitis pigmentosa 73 (RP73) (MedGen UID: 851433).

Synonym(s): HIBYLCOAH

The HIBCH gene is associated with autosomal recessive 3-hydroxyisobutryl-CoA hydrolase (HIBCH) deficiency (MedGen UID: 83349).

Synonym(s): HCS

The HLCS gene is associated with autosomal recessive holocarboxylase synthetase deficiency (MedGen UID: 120653).

Synonym(s): 3-Hydroxy-3-Methylglutaryl-CoA Lyase; HL; 3-Hydroxymethyl-3-Methylglutaryl-Coenzyme A Lyase; HMG-CoA Lyase; Hydroxymethylglutaricaciduria; Hydroxymethylglutaryl-CoA Lyase; Mitochondrial; Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Lyase

The HMGCL gene is associated with autosomal recessive 3-hydroxy-3-methylglutaryl (HMG)-CoA lyase deficiency (MedGen UID: 78692 ).

The HMGCS2 gene is associated with autosomal recessive 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase deficiency (MedGen UID: 414399).

HPD
Synonym(s): 4-HPPD; 4HPPD; GLOD3; HPPDASE; PPD

The HPD gene is associated with autosomal recessive tyrosinemia type III (TYRSN3) (MedGen UID: 78694). There is also preliminary evidence supporting a correlation with autosomal dominant hawkinsinuria (PMID: 11073718).

Synonym(s): HGPRT; HPRT

The HPRT1 gene is associated with X-linked recessive HPRT deficiency and includes the spectrum of Lesch Nyhan syndrome (MedGen UID: 9721) to isolated hyeruricemia with gout (MedGen UID: 82770).

Synonym(s): 17b-HSD10; ABAD; CAMR; DUPXp11.22; ERAB; HADH2; HCD2; MHBD; MRPP2; MRX17; MRX31; MRXS10; SCHAD; SDR5C1

The HSD17B10 gene is associated with X-linked dominant 2-methyl-3-hydroxybutyric acidemia (MedGen UID: 336957).

Synonym(s): DBP; MFE-2; MPF-2; PRLTS1; SDR8C1

The HSD17B4 gene is associated with autosomal recessive D-bifunctional protein (DBP) deficiency (MedGen UID: 137982). Additionally, the HSD17B4 gene has preliminary evidence supporting a correlation with autosomal recessive Perrault syndrome (PMID: 20673864).

Synonym(s): Hyaluronidase 1; HYAL-1; LUCA1; MPS9; NAT6

The HYAL1 gene is associated with autosomal recessive mucopolysaccharidosis type IX (MPS IX) (MedGen UID: 226942).

I
Synonym(s): D2HGA2; ICD-M; IDH; IDHM; IDP; IDPM; mNADP-IDH

The IDH2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant D-2-hydroxyglutaric aciduria 2 (MedGen UID: 462259).

IDS
Synonym(s): MPS2; SIDS

The IDS gene is associated with X-linked recessive mucopolysaccharidosis type II (MPS II, also known as Hunter syndrome) (MedGen UID: 7734).

Synonym(s): IDURONIDASE; ALPHA-L; ALPHA-L-IDURONIDASE; IDA; MPS1

The IDUA gene is associated with autosomal recessive mucopolysaccharidosis type I (MPS I, also known as Hurler syndrome) (MedGen UID: 39698, 88566, 6453).

Synonym(s): MDDGA7; MDDGC7; Nip; hCG_1745121

The ISPD gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A7 (MDDGA7) (MedGen UID: 766244) and type C7 (MDDGC7) (MedGen UID: 807556).

IVD
Synonym(s): ACAD2

The IVD gene is associated with autosomal recessive isovaleric acidemia (MedGen UID: 82822).

J
K
Synonym(s): CLN14; EPM3

The KCTD7 gene is associated with autosomal recessive progressive myoclonic epilepsy with or without intracellular inclusions (EPM3), also known as neuronal ceroid lipofuscinosis type 14 (CLN14) (MedGen UID: 388595).

L
Synonym(s): C14orf160; L2HGA

The L2HGDH gene is associated with autosomal recessive L-2-hydroxyglutaric aciduria (L2HGA) (MedGen UID: 341029).

Synonym(s): CD107b; LAMP-2; LAMPB; LGP110

The LAMP2 gene is associated with X-linked Danon disease (MedGen UID: 209235).

Synonym(s): LARGE; MDC1D; MDDGA6; MDDGB6

The LARGE1 gene (formerly known as LARGE) is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A6 (MDDGA6) (MedGen UID: 461764) and type B6 (MDDGB6) (MedGen UID: 373284).

Synonym(s): LDH subunit M; GSD11; HEL-S-133P; LDHM; PIG19

The LDHA gene is associated with autosomal recessive glycogen storage disease, type XI (GSDXI) (MedGen UID: 416688).

Synonym(s): SCDO3

The LFNG gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive spondylocostal dysostosis 3 (SCDO3) (MedGen UID: 377871; PMID: 16385447).

Synonym(s): HGCLAS; HUSSY-01; LAS; LIP1; LS; PDHLD

The LIAS gene is associated with autosomal recessive hyperglycinemia, lactic acidosis, and seizures (HGCLAS), also known as pyruvate dehydrogenase lipoic acid synthetase deficiency (PDHLD) (MedGen UID: 482517).

Synonym(s): CESD; LAL

The LIPA gene is associated with autosomal recessive lysosomal acid lipase (LAL) deficiency (MedGen UID: 53088).

Synonym(s): C6orf209; LMBD1; MAHCF; NESI

The LMBRD1 gene is associated with autosomal recessive methylmalonic aciduria and homocystinuria, cb1F type (MedGen UID: 336373).

M
Synonym(s): IAP; MRX95; OST3B; PRO0756; XMEN; bA217H1.1

The MAGT1 gene is associated with X-linked recessive MAGT1-CDG (also known as immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia [XMEN]) (MedGen UID: 477076).

Synonym(s): ERMAN1; ERManI; MANA-ER; MRT15

The MAN1B1 gene is associated with the autosomal recessive congential disorder of glycosylation syndrome MAN1B1-CDG (MedGenUID: 830900).

Synonym(s): LAMAN; MANB

The MAN2B1 gene is associated with autosomal recessive alpha mannosidosis (MANSA) (MedGen UID: 7467).

Synonym(s): beta-mannosidase A; MANB1

The MANBA gene is associated with autosomal recessive beta-mannosidosis (MANSB) (MedGen UID: 87462).

Synonym(s): BRNRS; MAO-A

The MAOA gene is associated X-linked recessive Brunner syndrome (MedGen UID: 208683).

Synonym(s): MAT; MATA1; SAMS; SAMS1

The MAT1A gene is associated with autosomal recessive hypermethioninemia (MedGen UID: 75700).

Synonym(s): MCC-B; MCCA

The MCCC1 gene is associated with autosomal recessive 3-methylcrotonyl-CoA carboxylase (3MCC) deficiency (MedGen UID: 468532).

Synonym(s): MCCB

The MCCC2 gene is associated with autosomal recessive 3-methylcrotonyl-CoA carboxylase (3MCC) deficiency (MedGen UID: 347898).

Synonym(s): GLOD2

The MCEE gene is associated with autosomal recessive methylmalonyl-CoA epimerase deficiency (MedGen UID: 344419).

Synonym(s): MG-2; ML4; MLIV; MST080; MSTP080; TRP-ML1; TRPM-L1; TRPML1

The MCOLN1 gene is associated with autosomal recessive mucolipidosis type 4 (ML4) (MedGen UID: 68663).

Synonym(s): CLN7; CCMD

The MFSD8 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 7 (CLN7) (MedGen UID: 325457).

Synonym(s): CDG2A; CDGS2; GLCNACTII; GNT-II; GNT2

MGAT2 is associated with autosomal recessive MGAT2-congenital disorder of glycosylation (CDG-IIa) (MedGen UID 87610).

Synonym(s): MCD

The MLYCD gene is associated with autosomal recessive malonyl-CoA decarboxylase deficiency (MedGen UID: 91001).

Synonym(s): cblA

The MMAA gene is associated with autosomal recessive cobalamin A type methylmalonic aciduria (MedGen UID: 344422).

Synonym(s): ATR; CFAP23; cblB; cob

The MMAB gene is associated with autosomal recessive cobalamin B type methylmalonic aciduria (MedGen UID: 344420).

Synonym(s): cblC

The MMACHC gene is associated with autosomal recessive methylmalonic aciduria and homocystinuria due to cobalamin C (cblC) deficiency (MedGen UID: 341256).

Synonym(s): C2orf25; CL25022; cblD

The MMADHC gene is associated with autosomal recessive cobalamin D (cbl D) deficiency (MedGen UID: 341253)

Synonym(s): HMCS; MCS; MOS; XAN2

The MOCOS gene is associated with autosomal recessive xanthinuria (PMID: 17368066, 11302742, 25967871).

Synonym(s): MIG11; MOCOD; MOCODA

The MOCS1 gene is associated with autosomal recessive molybdenum cofactor deficiency of complementation group A (MOCODA) (MedGen UID: 381530).

Synonym(s): CDG2B; CWH41; DER7; GCS1

MOGS is associated with autosomal recessive MOGS-congenital disorder of glycosylation (CDG-IIb) (MedGen UID 342954).

Synonym(s): BRP44L; CGI-129; MPYCD; dJ68L15.3

The MPC1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial pyruvate carrier deficiency (PMID: 12649063).

Synonym(s): CDGIF; HBEBP2BPA; Lec35; My008; PP3958; PQLC5; SL15

MPDU1 is associated with autosomal recessive MPDU1-congenital disorder of glycosylation (CDG-If) (MedGen UID 322968).

MPI
Synonym(s): CDG1B; PMI; PMI1

MPI is associated with autosomal recessive MPI-congenital disorder of glycosylation (CDG-Ib) (MedGen UID 400692).

The MTHFR gene is associated with autosomal recessive MTHFR deficiency (MedGen UID: 383829).

MTR
Synonym(s): HMAG; MS; cblG

The MTR gene is associated with autosomal recessive methylcobalamin G (cbl G)(MedGen UID: 344426).

Synonym(s): MSR; cblE

The MTRR gene is associated with autosomal recessive cobalamin E homocystinuria (MedGen UID: 344640).

MUT
Synonym(s): MCM

The MUT gene is associated with autosomal recessive methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency (MedGen UID: 344424).

N
Synonym(s): C5orf33; DECRD; MNADK; NADKD1

The NADK2 gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive 2,4-dienoyl-CoA reductase deficiency (DECRD) (PMID: 24847004, 2332510).

Synonym(s): D22S674; GALB

The NAGA gene is associated with autosomal recessive Schindler disease (MedGen UID: 373113, 324539, 324546).

Synonym(s): CMT2V; MPS-IIIB; MPS3B; NAG; UFHSD

The NAGLU gene is associated with autosomal recessive mucopolysaccharidosis type IIIB (MPS IIIB) (MedGen UID: 88601). There is also preliminary evidence supporting a correlation with autosomal dominant axonal Charcot-Marie-Tooth disease type 2V (CMT2V) (PMID: 25818867).

Synonym(s): AGAS; ARGA

The NAGS gene is associated with autosomal recessive N-acetylglutamate synthase (NAGS) deficiency (MedGen UID: 120649).

Synonym(s): NANH; NEU; SIAL1

The NEU1 gene is associated with autosomal recessive sialidosis, types I and II (MedGen UID: 376810, 120621).

Synonym(s): CGI-33; HIRIP; HIRIP5; MMDS1; NIFUC; Nfu; NifU

The NFU1 gene is associated with autosomal recessive multiple mitochondrial dysfunctions syndrome 1 (MMDS1) (MedGen UID: 343044).

Synonym(s): CDDG; CDG1V; PNG1; PNGase

NGLY1 is associated with autosomal recessive NGLY1-congenital disorder of glycosylation (CDG-Iv) (MedGen UID 815321).

Synonym(s): NPC

The NPC1 gene is associated with autosomal recessive Niemann-Pick disease type C (MedGen UID: 465922).

Synonym(s): EDDM1; HE1

The NPC2 gene is associated with autosomal recessive Niemann-Pick disease type C (MedGen UID 335942). 

Synonym(s): C6orf68; CDG1AA; MGC:7199; NgBR; TANGO14

The NUS1 gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive NUS1-CDG (PMID: 25066056).

O
OAT
Synonym(s): GACR; HOGA; OATASE; OKT

The OAT gene is associated with autosomal recessive gyrate atrophy of choroid and retina (GACR) (MedGen UID: 109343).

Synonym(s): AKGDH; E1k; OGDC

The OGDH gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with alpha-ketoglutarate dehydrogenase deficiency (PMID: 10774994, 1640293).

Synonym(s): MGA3

The OPA gene is associated with autosomal recessive 3-methylglutaconic aciduria, type III (formerly known as Costeff syndrome) (MedGen UID: 108273) and autosomal dominant optic atrophy and cataract (ADOAC) (MedGen UID: 371657).

Synonym(s): 5-Opase; OPLA; OPLAHD

The OPLAH gene is associated with autosomal recessive 5-oxoprolinase deficiency (MedGen UID: 82814).

OTC
Synonym(s): OCTD

The OTC gene is associated with X-linked ornithine transcarbamylase (OTC) deficiency (MedGen UID: 75692).

Synonym(s): OXCT; SCOT

The OXCT1 gene is associated with autosomal recessive succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency (MedGen UID: 137979).

P
PAH
Synonym(s): PH; PKU; PKU1

The PAH gene is associated with autosomal recessive hyperphenylalaninemia (HPA), which includes the spectrum of phenylketonuria (PKU), non-PKU hyperphenylalaninemia (non-PKU HPA) and benign HPA (MedGen UID: 19244).

Synonym(s): C20orf48; HARP; HSS; NBIA1; PKAN

The PANK2 gene is associated with autosomal recessive pantothenate kinase-associated neurodegeneration (PKAN) (MedGen UID: 6708).

Synonym(s): ATPSK2; BCYM4; SK2

The PAPSS2 gene is associated with autosomal recessive brachyolmia type 4 (BCYM4) (MedGen UID: 411234)

PC
Synonym(s): PCB

The PC gene is associated with autosomal recessive pyruvate carboxylase (PC) deficiency (MedGen UID: 18801).

Synonym(s): DCOH; PCBD; PCD; PHS

The PCBD1 gene is associated with tetrahydrobiopterin-deficient hyperphenylalaninemia due to pterin-4 alpha-carbinolamine dehydratase deficiency (MedGen UID: 440773).

The PCCA gene is associated with autosomal recessive propionic acidemia (MedGen UID: 75694).

The PCCB gene is associated with autosomal recessive propionic acidemia (MedGen UID: 75694).

Synonym(s): PDHA; PDHAD; PDHCE1A; PHE1A

The PDHA1 gene is associated with X-linked dominant pyruvate dehydrogenase E1-alpha deficiency (PDHAD) (MedGen UID: 326487).

Synonym(s): PDHBD; PDHE1-B; PHE1B

The PDHB gene is associated with autosomal recessive pyruvate dehydrogenase complex (PDHC) deficiency (MedGen UID: 357977).

Synonym(s): DLDBP; E3BP; OPDX; PDX1; proX

The PDHX gene is associated with autosomal recessive pyruvate dehydrogenase complex deficiency [PDHC] (MedGen UID: 343383).

Synonym(s): PDH; PDP; PDPC; PPM2A; PPM2C

The PDP1 gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive pyruvate dehydrogenase deficiency (PMID: 15855260, 19184109).

Synonym(s): HMLR1; PBD1A; PBD1B; ZWS; ZWS1

The PEX1 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 489910, MedGen UID: 343498, MedGen UID: 21958).

Synonym(s): NALD; PBD6A; PBD6B; RNF69

The PEX10 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766861, MedGen UID: 766862).

Synonym(s): PAF-3; PBD3A

The PEX12 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 330407, MedGen UID: 766843, MedGen UID: 79470).

Synonym(s): ZWS; NALD; PBD11A; PBD11B

The PEX13 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766914, 766915).

Synonym(s): NAPP2; PBD13A; Pex14p; dJ734G22.2

The PEX14 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766918).

Synonym(s): PBD8A; PBD8B

The PEX16 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 330407, MedGen UID: 766873, MedGen UID: 766874).

Synonym(s): PXF; HK33; PMP1; PMPI; PXMP1; PBD12A; D1S2223E

The PEX19 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766916).

Synonym(s): PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3; RNF72; ZWS3

The PEX2 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766854, 762202).

Synonym(s): PBD7A; PBD7B; PEX26M1T; Pex26pM1T

The PEX26 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 761334, 766865).

Synonym(s): PBD10A; TRG18

The PEX3 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766913).

Synonym(s): PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1; RCDP5

The PEX5 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 347830, MedGen UID: 129184). Additionally, the PEX5 gene has preliminary evidence supporting a correlation with rhizomelic chondrodysplasia punctata (PMID: 26220973).

Synonym(s): PAF2; PAF-2; PBD4A; PDB4B; PXAAA1; HMLR2

The PEX6 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766850, MedGen UID: 766851, MedGen UID: 851827).

Synonym(s): PBD9B; PTS2R; RCDP1; RD

The PEX7 gene is associated with autosomal recessive rhizomelic chondrodysplasia punctata type 1 (RCDP1) (MedGen UID: 347072) and autosomal recessive Refsum disease (MedGen UID:11161 )

Synonym(s): ATP-PFK; GSD7; PFK-1; PFK1; PFKA; PFKX; PPP1R122

The PFKM gene is associated with autosomal recessive glycogen storage disorder, type VII (GSD7) (MedGen UID: 5342).

Synonym(s): GSD10; PGAM-M; PGAMM

The PGAM2 gene is associated with autosomal recessive glycogen storage disease type X (GSD10) (MedGen UID: 120613).

Synonym(s): CDG1T; GSD14

PGM1 is associated with autosomal recessive PGM1-congenital disorder of glycosylation (CDG-It) (MedGen UID 766970).

Synonym(s): AGM1; IMD23; PAGM; PGM 3

The PGM3 gene is associated with autosomal recessive PGM3-congenital disorders of glycosylation (CDG) (MedGen UID: 786092).

Synonym(s): 3PGDH; 3-PHOSPHOGLYCERATE DEHYDROGENASE; 3-PGDH; HEL-S-113; NLS; NLS1; PDG; PGAD; PGD; PGDH; PHGDHD; SERA

The PHGDH gene is associated with autosomal recessive Neu-Laxova syndrome (NLS) (MedGen UID: 833709). Additionally, the PHGDH gene has preliminary evidence supporting a correlation with autosomal recessive phosphoglycerate dehydrogenase deficiency (PMID: 19235232, 11055895).

Synonym(s): PHKA

The PHKA1 gene is associated with X-linked recessive glycogen storage disease type IXd (GSD9D) (MedGen UID: 335112).

Synonym(s): GSD9A; PHK; PYK; PYKL; XLG; XLG2

The PHKA2 gene is associated with X-linked recessive glycogen storage disease type IXa (GSD9A) (MedGen UID: 42261).

The PHKB gene is associated with autosomal recessive glycogen storage disease type IXb (GSD9B) (MedGen UID: 337918).

Synonym(s): GSD9C

The PHKG2 gene is associated with autosomal recessive glycogen storage disease, type IXc (GSD9C) (MedGen UID: 442778).

Synonym(s): LN1; LNAP1; PAHX; PHYH1; RD

The PHYH gene is associated with autosomal recessive adult Refsum disease, type 1 (ARD type1) (MedGen UID:11161).

Synonym(s): GPI3; MCAHS2; PIG-A; PNH1

The PIGA gene is associated with X-linked recessive multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) (MedGen UID: 477139).

Synonym(s): CHIME

The PIGL gene is associated with autosomal recessive CHIME syndrome (MedGen UID: 341214).

Synonym(s): GPI-MT-I

The PIGM gene currently has no well-established disease association, however, there is preliminary evidence supporting a correlation with autosomal recessive glycosylphosphatidylinositol deficiency (PMID: 16767100).

Synonym(s): MCAHS; MCAHS1; MCD4; MDC4; PIG-N

The PIGN gene is associated with autosomal recessive multiple congenital anomalies-hypotonia-seizures syndrome 1 (MedGen UID: 481405).

Synonym(s): HPMRS2

The PIGO gene is associated with autosomal recessive hyperphosphatasia with intellectual disability syndrome (MedGen UID: 766551).

Synonym(s): GPI1; c407A10.1

The PIGQ gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with an autosomal recessive seizure disorder (PMID: 24463883).

Synonym(s): CGI-06; MCAHS3; NDAP; PNH2

The PIGT gene is associated with autosomal recessive multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) (MedGen UID 815686). Additionally, the PIGT gene has preliminary evidence supporting a correlation with paroxysmal nocturnal hemoglobinuria (PMID: 23733340).

Synonym(s): GPI-MT-II; HPMRS1; PIG-V

The PIGV gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hyperphosphatasia with intellectual disability syndrome-1 (PMID: 20802478, 22315194).

Synonym(s): Gwt1; HPMRS5

The PIGW gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hyperphosphatasia with intellectual disability syndrome 5 (PMID: 24367057).

Synonym(s): CaI-PLA2; GVI; INAD1; IPLA2-VIA; NBIA2; NBIA2A; NBIA2B; PARK14; PLA2; PNPLA9; iPLA2; iPLA2beta

The PLA2G6 gene is associated with autosomal recessive neuroaxonal dystrophy (MedGen UID: 82852), dystonia-parkinsonism (MedGen UID: 414488) and autosomal recessive neurodegeneration with brain iron accumulation (NBIA) (MedGen UID: 448017).

Synonym(s): CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2

The PMM2 gene is associated with autosomal recessive PMM2-congenital disorder of glycosylation (CDG-Ia) (MedGen UID 138111).

PNP
Synonym(s): NP; PRO1837; PUNP

The PNP gene is associated with autosomal recessive purine nucleoside phosphorylase deficiency (MedGen UID: 75653).

Synonym(s): HEL-S-302; PDXPO

The PNPO gene is associated with autosomal recessive pyridoxal 5’-phosphate-dependent epilepsy (MedGen UID: 350498).

Synonym(s): DDD2; FUT12; O-FUT; O-Fuc-T; O-FucT-1; OFUCT1

The POFUT1 gene is associated with autosomal dominant Dowling-Degos disease 2 (DDD2) (MedGen UID: 815477).

Synonym(s): C3orf9; CLP46; KDELCL1; KTELC1; MDS010; MDSRP; Rumi; hCLP46

The POGLUT1 gene is associated with autosomal dominant Dowling-Degos disease (MedGen UID: 816643).

Synonym(s): MDP1; MIRAS; MTDPS4A; MTDPS4B; PEO; POLG1; POLGA; SANDO; SCAE

The POLG gene is associated with a spectrum of related autosomal recessive conditions (MedGen UID: 60012) including mitochondrial DNA depletion syndrome 4A (Alpers type; MTDPS4A), mitochondrial DNA depletion syndrome 4B (MNGIE type; MTDPS4B), sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO), spinocerebellar ataxia with epilepsy (SCAE), and progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOB1). In addition, the POLG gene is associated with autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1)(MedGen UID: 371919).

Synonym(s): MEB; GNTI.2; LGMD2O; MDDGA3; MDDGB3; MDDGC3; GnT I.2; MGAT1.2; gnT-I.2

The POMGNT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A3 (MDDGA3) (MedGen UID: 462869), type B3 (MDDGB3) (MedGen UID: 461762) and type C3 (MDDGC3) (MedGen UID: 461767).

Synonym(s): AGO61; C3orf39; GTDC2; MDDGA8

The POMGNT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A8 (MDDGA8) (MedGen UID: 766727).

Synonym(s): MDDGA12; MDDGC12; SGK196

The POMK gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A12 (MDDGA12) (MedGen UID: 815294) and type C12 (MDDGC12) (MedGen UID: 808099).

Synonym(s): RT; LGMD2K; MDDGA1; MDDGB1; MDDGC1

The POMT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A1 (MDDGA1) (MedGen UID: 75553), type B1 (MDDGB1) (MedGen UID: 461765) and type C1 (MDDGC1) (MedGen UID: 332193).

Synonym(s): LGMD2N; MDDGA2; MDDGB2; MDDGC2

The POMT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A2 (MDDGA2) (MedGen UID: 461761), type B2 (MDDGB2) (MedGen UID: 461766) and type C2 (MDDGC2) (MedGen UID: 461768).

Synonym(s): BDP; MSUDMV; PP2Ckappa; PP2Cm; PTMP; UG0882E07

The PPM1K gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive maple syrup urine disease (MSUD) (MedGen UID: 767489) (PMID: 23086801).

Synonym(s): CLN1; INCL; PPT

The PPT1 gene is associated with autosomal recessive forms of neuronal ceroid lipofuscinosis 1 (CLN1) (MedGen UID: 340540).

The PREPL gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome (CMS) (PMID: 24610330).

Synonym(s): HSPOX2; PIG6; POX; PRODH1; PRODH2; TP53I6

The PRODH gene is associated with autosomal recessive hyperprolinemia type 1 (MedGen UID: 12064), a biochemical phenotype which may or may not result in a clinical condition.

Synonym(s): SPHINGOLIPID ACTIVATOR PROTEIN 1; SPHINGOLIPID ACTIVATOR PROTEIN 2; SAPOSIN A; SAPOSIN B; SAPOSIN C; SAPOSIN D; SAPA; SAPB; SAPC; SAPD; GLBA; SAP1

The PSAP gene is associated with autosomal recessive combined saposin deficiency (PSAPD) (MedGen UID: 382151), metachromatic leukodystrophy due to saposin B deficiency (PMID: 26462614), and autosomal recessive atypical Gaucher disease due to saposin C deficiency (PMID: 17919309). There is also preliminary evidence supporting a correlation with atypical Krabbe disease due to saposin A deficiency (PMID: 15773042).

Synonym(s): ENDOMETRIAL PROGESTERONE-INDUCED PROTEIN; EPIP; NLS2; PSA; PSAT; PSATD

The PSAT1 gene is associated with autosomal recessive Neu-Laxova syndrome 2 (NLS2) (MedGen UID: 807539).

Synonym(s): PSP; PSPHD

The PSPH gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive phosphoserine phosphatase deficiency (PSPHD) (PMID: 25080166, 14673469).

PTS
Synonym(s): PTPS

The PTS gene is associated with autosomal recessive tetrahydrobiopterin-deficient hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency (MedGen UID: 209234).

Synonym(s): GSD6

The PYGL gene is associated with autosomal recessive glycogen storage disease type VI (GSD6) (MedGen UID: 6643).

The PYGM gene is associated with autosomal recessive glycogen storage disease type V (GSD5), also known as McArdle disease (MedGen UID: 5341).

Q
Synonym(s): DHPR; PKU2; SDR33C1

The QDPR gene is associated with autosomal recessive tetrahydrobiopterin-deficient hyperphenylalaninemia due to quinoid dihydropteridine reductase (DHPR) deficiency (MedGen UID: 75682).

R
Synonym(s): C20orf18; HOIL-1; HOIL1; PBMEI; PGBM1; RBCK2; RNF54; UBCE7IP3; XAP3; XAP4; ZRANB4

The RBCK1 gene is associated with autosomal recessive polyglucosan body myopathy 1 with or without immunodeficiency (PGBM1) (MedGen UID: 797261).

Synonym(s): CDG1N

RFT1 is associated with autosomal recessive RFT1-congenital disorder of glycosylation (CDG-In) (MedGen UID 383145).

Synonym(s): Dolichyl-diphosphooligosaccharide-protein glycosyltransferase subunit 2; Ribophorin-2; Oligosaccharyltransferase complex subunit (non-catalytic); Dolichyl-diphosphooligosaccharide-protein glycosyltransferase 63 kDa subunit; SWP1; RPNII; RIBIIR; RPN-II

The RPN2 gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with RPN2-congenital disorder of glycosylation (RPN2-CDG) (PMID: 19835842).

S
Synonym(s): CLSD

The SEC23A gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive craniolenticulosutural dysplasia (CLSD) (PMID: 16980979, 21039434; MedGen UID: 334671).

Synonym(s): CDA-II; CDAII; CDAN2; CWS7; HEMPAS

THE SEC23B gene is associated with autosomal recessive SEC23B-CDG, also known as congenital dyserythropoietic anemia, type II (CDAII) (MedGen UID: 266296).

The SERAC1 gene is associated with autosomal recessive 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL) (MedGen UID: 766511).

Synonym(s): Heparan Sulfate Sulfatase; HSS; Sulfamidase; MPS3A; SFMD

The SGSH gene is associated with autosomal recessive mucopolysaccharidosis type IIIA (also called Sanfilippo IIIA) (MedGen UID: 39264).

Synonym(s): EIEE25; NACT; mIndy

The SLC13A5 gene is associated with autosomal recessive early infantile epileptic encephalopathy type 25 (EIEE25) (MedGen UID: 797276).

Synonym(s): AST; ISSD; NSD; SD; SIALIN; SIASD; SLD

The SLC17A5 gene is associated with autosomal recessive sialic acid storage disorders including infantile free sialic acid storage disease (ISSD) (MedGen UID: 203367) and Salla disease (MedGen UID: 203368).

Synonym(s): BBGD; THMD2; THTR2

The SLC19A3 gene is associated with autosomal recessive thiamine metabolism dysfunction syndrome 2 (THMD2), also known as biotin-responsive basal ganglia disease (BBGD) (MedGen UID: 375289).

Synonym(s): CDSP; OCTN2

The SLC22A5 gene is associated with autosomal recessive primary carnitine deficiency (MedGen UID: 90999).

Synonym(s): CTP; D2L2AD; SEA; SLC20A3

The SLC25A1 gene is associated with autosomal recessive combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA) (MedGen UID: 412535).

Synonym(s): ARALAR2; CITRIN; CTLN2

The SLC25A13 gene is associated with citrin deficiency (MedGen UID: 372684).

Synonym(s): D13S327; HHH; ORC1; ORNT1

The SLC25A15 gene is associated with autosomal recessive hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome (MedGen UID: 82815).

Synonym(s): DNC; MCPHA; MUP1; THMD3; THMD4; TPC

The SLC25A19 gene is associated with autosomal recessive microcephaly, Amish type (MCPHA) (MedGen UID: 375938). Additionally, the SLC25A19 gene has preliminary evidence supporting a correlation with autosomal recessive bilateral striatal necrosis and progressive polyneuropathy (PMID: 19798730).

Synonym(s): CAC; CACT

The SLC25A20 gene is associated with autosomal recessive carnitine-acylcarnitine translocase (CACT) deficiency (MedGen UID: 91000).

Synonym(s): EIEE3; GC-1; GC1; NET44

The SLC25A22 gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGenUID: 124373).

Synonym(s): D5S1708; DTD; DTDST; EDM4; MST153; MSTP157

The SLC26A2 gene is associated with autosomal recessive achondrogenesis, type IB (ACG1B) (MedGen UID: 78547), atelosteogenesis type 2 (AO2) (MedGen UID: 338072), diastrophic dysplasia (DTD) (MedGen UID: 113103), and multiple epiphyseal dysplasia 4 (EDM4) (MedGen UID: 376164).

Synonym(s): CSE; DYT17; DYT18; DYT9; EIG12; GLUT; GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN

The SLC2A1 gene is associated with autosomal dominant glucose transporter type 1 (GLUT1) deficiency syndrome (PMID: 19304421, 15132717, 23443458).

Synonym(s): GLUT2

The SLC2A2 gene is associated with autosomal recessive Fanconi-Bickel syndrome (FBS) (MedGen UID: 501176).

Synonym(s): ACATN; AT-1; AT1; CCHLND; SPG42

The SLC33A1 gene is associated with Huppke-Brendel syndrome (MedGen UID: 482595, PMID: 22243965, 27306358). Additionally, the SLC33A1 gene has preliminary evidence supporting a correlation with autosomal dominant Hereditary spastic paraplegia 42 (SPG42) (MedGen UID: 393407).

Synonym(s): CDG2F; CMPST; CST; hCST

SLC35A1 is associated with autosomal recessive SLC35A1-congenital disorder of glycosylation (CDG-IIf) (MedGen UID 370234).

Synonym(s): CDG2M; CDGX; UDP-Gal-Tr; UGALT; UGAT; UGT; UGT1; UGT2; UGTL

The SLC35A2 gene is associated with the X-linked dominant congenital disorder of glycosylation SLC35A2-CDG (CDG-IIm) (MedGen UID 813018).

Synonym(s): AMRS

The SLC35A3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive arthrogryposis, intellectual disability, and seizures (PMID 24031089).

Synonym(s): CDG2C; FUCT1

SLC35C1 is associated with autosomal recessive SLC35C1-congenital disorder of glycosylation (CDG-IIc) (MedGen UID 162913).

Synonym(s): UGTREL7

The SLC35D1 gene is associated with autosomal recessive Schneckenbecken dysplasia (SBD) (MedGen UID: 98475).

Synonym(s): G6PT1; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; PRO0685; TRG-19; TRG19

The SLC37A4 gene is associated with autosomal recessive glycogen storage disease type 1b (GSD1b) (MedGen UID: 78644).

Synonym(s): ATR1; CSNU1; D2H; NBAT; RBAT

The SLC3A1 gene is associated with autosomal recessive cystinuria (MedGen UID: 8226).

Synonym(s): GPCR42; GPR172B; PAR2; RBFVD; RFT1; RFVT1; hRFT1

The SLC52A1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant riboflavin transporter deficiency (PMID: 21089064, 17689999).

Synonym(s): BVVLS2; D15Ertd747e; GPCR41; GPR172A; PAR1; RFT3; RFVT2; hRFT3

The SLC52A2 gene is associated with autosomal recessive riboflavin transporter deficiency neuronopathy (also known as Brown-Vialetto-Van Laere syndrome 2 [BVVLS2]) (MedGen UID: 766452).

Synonym(s): BVVLS; BVVLS1; C20orf54; RFT2; RFVT3; bA371L19.1; hRFT2

The SLC52A3 gene is associated with autosomal recessive riboflavin transporter deficiency neuronopathy (also known as Brown-Vialetto-Van Laere syndrome 1 [BVVLS1]) (MedGen UID: 881160, 140728).

Synonym(s): D22S675; NAGT; SGLT1

The SLC5A1 gene is associated with autosomal recessive glucose-galactose malabsorption (GGM) (MedGen UID: 78647).

Synonym(s): DAT; DAT1; PKDYS

The SLC6A3 gene is associated with autosomal recessive infantile parkinsonism-dystonia (PKDYS) (MedGen UID: 413468).

Synonym(s): GLYT-2; GLYT2; HKPX3; NET1

The SLC6A5 gene is associated with autosomal recessive hyperekplexia 3 (HKPX3) (MedGen UID: 766202).

Synonym(s): Creatinine transporter; CT1; CRTR; CRT; Solute Carrier Family 6 Member 8; Sodium- And Chloride-Dependent Creatine Transporter 1; Creatine Transporter SLC6A8; CCDS1; CTR5

The SLC6A8 gene is associated with X-linked recessive creatine transporter deficiency (CTD) (MedGen UID: 337451).

Synonym(s): GLYT1

The SLC6A9 gene is associated with autosomal recessive glycine encephalopathy with normal serum glycine (MedGen UID: 909928).

Synonym(s): LAT3; LPI; MOP-2; Y+LAT1; y+LAT-1

The SLC7A7 gene is associated with autosomal recessive lysinuric protein intolerance (LPI) (MedGen UID: 75704).

Synonym(s): BAT1; CSNU3

The SLC7A9 gene is associated with non-type 1 Cystinuria (MedGen UID: 8226).

Synonym(s): ASM; ASMASE; NPD

The SMPD1 gene is associated with autosomal recessive Niemann-Pick disease type A (NPD-A) (MedGen UID: 78650) and Niemann-Pick disease type B (NPD-B) (MedGen UID: 78651).

SPR
Synonym(s): SDR38C1

The SPR gene is associated with autosomal recessive sepiapterin reductase deficiency (MedGen UID: 120642).

Synonym(s): CDG1P; CDG1Q; KRIZI; SRD5A2L; SRD5A2L1

SRD5A3 is associated with autosomal recessive SRD5A3-congenital disorder of glycosylation (CDG-Iq) (MedGen UID 461541).

Synonym(s): CDG1Y; TRAPD

The SSR4 gene is associated with X-linked SSR4-CDG (CDG type 1y) (MedGen UID: 799560).

Synonym(s): EIEE15; MRT12; SIAT6; ST3GALII; ST3GalIII; ST3N

The ST3GAL3 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 767230).