Metabolic Disorders and Newborn Screening

192 genes

Invitae Supplemental Metabolic Newborn Screening Panel

Learn More

Genetic testing for genes associated with conditions that may present similarly to metabolic newborn screening disorders but are not screened for by the US newborn screening program.

160 genes

Invitae Metabolic Newborn Screening Confirmation Panel

Learn More

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

6 genes

Invitae Lysosomal Storage Disorders Newborn Screening Panel

Learn More

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

40 genes

Invitae Elevated Very Long Chain Fatty Acids Panel (including X-ALD)

Learn More

Genetic testing for genes associated with elevated very long chain fatty acids.

8 genes

Invitae Elevated Phenylalanine (Hyperphenylalaninemia) Panel

Learn More

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

2 genes

Invitae Elevated Proline (Hyperprolinemia) Panel

Learn More

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

1 gene

Invitae Elevated C6, C8 and C10 (MCAD deficiency) Test

Learn More

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

1 gene

Invitae Elevated C5-DC (Glutaric Aciduria Type I) Test

Learn More

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.

9 genes

Invitae Elevated C4 and C5 (Multiple Acyl-CoA Dehydrogenase deficiency) Panel

Learn More

Genetic testing for genes associated with simultaneously elevated C4 & C5 acylcarnitines or with multiple acyl-CoA dehydrogenase deficiency (MADD).

40 genes

Invitae Elevated Very Long Chain Fatty Acids Panel (including X-ALD)

Learn More

Genetic testing for genes associated with elevated very long chain fatty acids.

1 gene

Invitae Low C0 Test

Learn More

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

1 gene

Invitae Elevated C0/(C16+C18) Test

Learn More

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.

20 genes

Invitae Elevated C3 Panel

Learn More

Genetic testing for genes associated with elevated C3 on newborn screening (NBS) or in plasma acylcarnitines.

2 genes

Invitae Elevated C3-DC Panel

Learn More

Genetic testing for genes associated with elevated C3-DC on newborn screening or plasma acylcarnitine.

4 genes

Invitae Elevated C4 Panel

Learn More

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

2 genes

Invitae Elevated C4-DC Panel

Learn More

Genetic testing for 2 genes that are associated with elevated C4-dicarboxylic carnitine (C4-DC) on newborn screening (NBS) or acylcarnitine analysis.

2 genes

Invitae Elevated C4-OH Test

Learn More

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.

2 genes

Invitae Elevated C5 Panel

Learn More

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

13 genes

Invitae Elevated C5-OH Panel

Learn More

Genetic testing for 13 genes that are associated with elevated C5-OH on newborn screening (NBS) or acylcarnitines.

1 gene

Invitae Elevated C14 and C14:1 (VLCAD deficiency) Test

Learn More

Genetic testing for very long chain acyl-CoA dehydrogenase (VLCAD) deficiency.

2 genes

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

Learn More

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.

2 genes

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

Learn More

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.

2 genes

Invitae Elevated Arginine (Arginase deficiency) Panel

Learn More

Genetic testing for genes associated with elevated arginine and Arginase deficiency.

5 genes

Invitae Elevated Citrulline (Citrullinemia) Panel

Learn More

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

4 genes

Invitae Low Citrulline Panel

Learn More

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

12 genes

Invitae Elevated Glycine Panel (including Glycine Encephalopathy)

Learn More

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

6 genes

Invitae Elevated Leucine (MSUD) Panel

Learn More

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

7 genes

Invitae Elevated Methionine Panel

Learn More

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

1 gene

Invitae Elevated Succinylacetone Test

Learn More

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

3 genes

Invitae Elevated Tyrosine (Tyrosinemia) Panel

Learn More

Genetic testing for genes that are associated with elevations of tyrosine on newborn screening (NBS) or plasma amino acid analysis.

2 genes

Invitae Elevated Arginine (Arginase deficiency) Panel

Learn More

Genetic testing for genes associated with elevated arginine and Arginase deficiency.

5 genes

Invitae Elevated Citrulline (Citrullinemia) Panel

Learn More

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

6 genes

Invitae Elevated Leucine (MSUD) Panel

Learn More

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

12 genes

Invitae Elevated Glycine Panel (including Glycine Encephalopathy)

Learn More

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

3 genes

Invitae Elevated Tyrosine (Tyrosinemia) Panel

Learn More

Genetic testing for genes that are associated with elevations of tyrosine on newborn screening (NBS) or plasma amino acid analysis.

1 gene

Invitae Alkaptonuria Test

Learn More

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.

31 genes

Invitae Methylmalonic Acidemia and Homocystinuria Panel

Learn More

Genetic testing for genes associated with isolated/combined methylmalonic acidemia and homocystinuria.

3 genes

Invitae Cystinuria Panel

Learn More

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.

8 genes

Invitae Elevated Phenylalanine (Hyperphenylalaninemia) Panel

Learn More

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

2 genes

Invitae Elevated Proline (Hyperprolinemia) Panel

Learn More

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

120 genes

Invitae Hypoglycemia Panel

Learn More

Genetic testing for genes associated with hypoglycemia.

7 genes

Invitae Galactosemia Panel

Learn More

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

1 gene

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

Learn More

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

29 genes

Invitae Comprehensive Glycogen Storage Disease Panel

Learn More

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

1 gene

Invitae Hereditary Fructose Intolerance Test

Learn More

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

2 genes

Invitae Rare Carbohydrate Disorders Panel

Learn More

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.

154 genes

Invitae Congenital Disorders of Glycosylation Panel

Learn More

Genetic testing for genes associated with congenital disorders of glycosylation (CDGs).

1 gene

Invitae Elevated C14 and C14:1 (VLCAD deficiency) Test

Learn More

Genetic testing for very long chain acyl-CoA dehydrogenase (VLCAD) deficiency.

24 genes

Invitae Fatty Acid Oxidation Defects Panel

Learn More

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

3 genes

Invitae Ketolysis Disorders Panel

Learn More

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

1 gene

Invitae Elevated C6, C8 and C10 (MCAD deficiency) Test

Learn More

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

9 genes

Invitae Elevated C4 and C5 (Multiple Acyl-CoA Dehydrogenase deficiency) Panel

Learn More

Genetic testing for genes associated with simultaneously elevated C4 & C5 acylcarnitines or with multiple acyl-CoA dehydrogenase deficiency (MADD).

up to 53 genes

Invitae Comprehensive Lysosomal Storage Disorders Panel

Learn More

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

1 gene

Invitae Cystinosis Test

Learn More

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.

1 gene

Invitae Fabry Disease Test

Learn More

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

1 gene

Invitae Farber Lipogranulomatosis Test

Learn More

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

3 genes

Invitae GM2 Gangliosidosis Panel

Learn More

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

up to 2 genes

Invitae Krabbe Disease Test

Learn More

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

1 gene

Invitae Lysosomal Acid Lipase Deficiency Test

Learn More

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).

3 genes

Invitae Metachromatic Leukodystrophy Panel

Learn More

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

27 genes

Invitae Mucopolysaccharidoses Plus (MPS+) Panel

Learn More

Genetic testing for genes associated with mucopolysaccharidoses, mucolipidoses, and oligosaccharidoses.

up to 13 genes

Invitae Neuronal Ceroid Lipofuscinoses Panel

Learn More

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

up to 2 genes

Invitae Niemann-Pick Disease Types A and B Panel

Learn More

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

up to 4 genes

Invitae Niemann-Pick Disease Type C Panel

Learn More

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

up to 3 genes

Invitae Pompe Disease Test

Learn More

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

up to 2 genes

Invitae Sandhoff Disease Test

Learn More

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

1 gene

Invitae Tay-Sachs Disease Test

Learn More

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

20 genes

Invitae Neurodegeneration with Brain Iron Accumulation Panel

Learn More

Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of inherited conditions that are characterized by abnormal iron deposits in the brain that manifest as a movement disorder with varying degrees of intellectual disability.

10 genes

Invitae Copper Metabolism Disorders Panel

Learn More

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

1 gene

Invitae Wilson Disease Test

Learn More

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.

3 genes

Invitae Ketolysis Disorders Panel

Learn More

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

101 genes

Invitae Organic Acidemias Panel

Learn More

Genetic testing for genes associated with organic acidemia.

2 genes

Invitae 3-Methylcrotonyl-CoA Carboxylase Panel

Learn More

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

1 gene

Invitae Biotinidase Deficiency Test

Learn More

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

1 gene

Invitae Elevated C5-DC (Glutaric Aciduria Type I) Test

Learn More

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.

31 genes

Invitae Methylmalonic Acidemia and Homocystinuria Panel

Learn More

Genetic testing for genes associated with isolated/combined methylmalonic acidemia and homocystinuria.

9 genes

Invitae Elevated C4 and C5 (Multiple Acyl-CoA Dehydrogenase deficiency) Panel

Learn More

Genetic testing for genes associated with simultaneously elevated C4 & C5 acylcarnitines or with multiple acyl-CoA dehydrogenase deficiency (MADD).

2 genes

Invitae Propionic Acidemia Panel

Learn More

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.

up to 15 genes

Invitae Urea Cycle Disorders Panel

Learn More

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

up to 4 genes

Invitae Ornithine Transcarbamylase (OTC) Deficiency Test

Learn More

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

2 genes

Invitae Elevated Arginine (Arginase deficiency) Panel

Learn More

Genetic testing for genes associated with elevated arginine and Arginase deficiency.

5 genes

Invitae Elevated Citrulline (Citrullinemia) Panel

Learn More

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

3 genes

Invitae Cerebral Creatine Deficiency Panel

Learn More

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

1 gene

Invitae Cystic Fibrosis Newborn Screening Confirmation Test

Learn More

Genetic testing for the CFTR gene which associated with Cystic Fibrosis.

up to 3 genes

Invitae Cerebrotendinous Xanthomatosis Test

Learn More

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

12 genes

Invitae Elevated Glycine Panel (including Glycine Encephalopathy)

Learn More

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

195 genes

Invitae Treatable Neurometabolic Disorders Panel

Learn More

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

253 genes

Invitae Comprehensive Neurometabolic Disorders Panel

Learn More

Genetic testing for genes associated with neurometabolic disorders.

45 genes

Invitae Neurotransmitter Disorders Panel

Learn More

Genetic testing for genes that are associated with inherited neurotransmitter disorders.

13 genes

Invitae Hereditary Hyperekplexia Panel

Learn More

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

2 genes

Invitae Adult Refsum Disease Panel

Learn More

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.

18 genes

Invitae Zellweger Spectrum Disorder Panel

Learn More

Genetic testing for genes associated with Zellweger Spectrum disorders (ZSD).

40 genes

Invitae Elevated Very Long Chain Fatty Acids Panel (including X-ALD)

Learn More

Genetic testing for genes associated with elevated very long chain fatty acids.

18 genes

Invitae Purine Metabolism Disorders Panel

Learn More

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

38 genes

Invitae Pyruvate Metabolism and Related Disorders Panel

Learn More

Genetic testing for genes associated with disorders of pyruvate metabolism.

1 gene

Invitae Alpha-1 Antitrypsin Deficiency Test

Learn More

The Invitae Alpha-1 Antitrypsin Deficiency Test analyzes the SERPINA1 gene which is associated with a heterogeneous condition that manifests with hepatic dysfunction in infants through adulthood and with chronic obstructive lung disease in adults.

28 genes

Invitae Monogenic Diabetes Panel

Learn More

Genetic testing for genes associated with syndromic and nonsyndromic causes of monogenic diabetes.

195 genes

Invitae Treatable Neurometabolic Disorders Panel

Learn More

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

4 genes

Invitae Acute Hepatic Porphyrias Panel

Learn More

Genetic testing for up to 4 genes associated with acute hepatic porphyrias.

10 genes

Invitae Comprehensive Porphyrias Panel

Learn More

The Invitae Comprehensive Porphyrias Panel analyzes the genes associated with the porphyrias, a heterogeneous group of disorders caused by abnormal heme production.

446 genes

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Learn More

The Invitae Leukodystrophy and Genetic Leukoencephaly Panel has been developed to offer a broad, symptom-based approach to diagnosing heritable conditions that affect the white matter of the central nervous system, with or without peripheral nervous system involvement (PMID: 25649058). This panel also evaluates genes associated with conditions that do not fit the strict definition of leukodystrophy, but nevertheless affect the central white matter, such as certain inborn errors of metabolism, congenital muscular dystrophies with significant white matter involvement, progressive neurodegenerative disorders, and other neuronal disorders that affect myelination. Multiple nuclear-encoded genes associated with mitochondrial dysfunction that may result in white matter abnormalities have been included, however mitochondrial DNA is not evaluated by this panel. Of note, this panel includes genes associated with adult-onset neurodegenerative conditions, as well as, some genes that confer risk for both a childhood-onset, autosomal recessive leukodystrophy, and an autosomal dominant increased risk for cancer (i.e. FH, PTEN, SDHA, and SDHB).

265 genes

Invitae Cerebral Palsy Spectrum Disorders Panel

Learn More

The Invitae Cerebral Palsy Spectrum Disorders Panel analyzes a broad panel of genes to determine the underlying etiology of cerebral palsy (CP), which is a heterogeneous group of neurodevelopmental conditions characterized by abnormal movements, fluctuating patterns of muscle tone and posture (PMID: 25280894,30913345).

68 genes

Invitae Monogenic Obesity Panel

Learn More

Genetic testing for genes associated with monogenic obesity.

120 genes

Invitae Hypoglycemia Panel

Learn More

Genetic testing for genes associated with hypoglycemia.

76 genes

Invitae Hyperammonemia Panel

Learn More

Genetic testing for genes that are associated with hyperammonemia.

up to 207 genes

Invitae Mendelian Disorders with Psychiatric Symptoms Panel

Learn More

Genetic testing for genes associated with Mendelian (single gene) disorders with psychiatric symptoms.

up to 52 genes

Invitae Metabolic Non-Immune Fetal Hydrops Panel

Learn More

Genetic testing for up to 53 genes that are associated with metabolic causes of non-immune fetal hydrops.

333 genes

Invitae Nuclear Mitochondrial Disorders Panel

Learn More

Genetic testing for nuclear genes associated with mitochondrial disorders.

3 genes

Invitae Primary Hyperoxaluria Panel

Learn More

Genetic testing for 3 genes associated with primary hyperoxaluria.

1 gene

Invitae X-Linked Hypophosphatemia Test

Learn More

The Invitae X-Linked Hypophosphatemia Test analyzes the PHEX gene, which is associated with the most common genetic form of hypophosphatemia.

17 genes

Invitae Hypophosphatemia Panel

Learn More

The genetic forms of hypophosphatemia are heterogeneous conditions which are characterized by abnormal phosphate levels leading to abnormal growth of bones and teeth.

To add genes to your cart, first select a clinical area to see available combinations

  • Clinical Area: Newborn Screening and Metabolism and Immunology
  • Clinical Area: Primary Hyperoxalurias
  • Clinical Area: Hypophosphatemia

Gene
A
A4GALT

The A4GALT gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with congenital disorders of glycosylation (A4GALT-CDG) (PMID: 30454869).

AAAS

The AAAS gene is associated with autosomal recessive glucocorticoid deficiency with achalasia, also known as achalasia addisonianism alacrimia syndrome (Triple A syndrome) (MedGen UID: 82889).

AARS

The AARS gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) (MedGen UID: 413754) and autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 908570).

AARS2

The AARS2 gene is associated with autosomal recessive progressive leukoencephalopathy with ovarian failure (LKENP) (MedGen UID: 863025), and autosomal recessive combined oxidative phosphorylation deficiency 8 (COXPD8) (MedGen UID: 481423).

AASS

The AASS gene is associated with autosomal recessive hyperlysinemia type I (MedGen UID: 810610).

ABAT

The ABAT gene is associated with autosomal recessive GABA-transaminase (GABA-T) deficiency (MedGen UID: 137977).

ABCA1

The ABCA1 gene is associated with autosomal recessive Tangier disease (MedGen UID: 52644). Additionally, the ABCA1 gene has preliminary evidence supporting a correlation with autosomal dominant high-density lipoprotein (HDL) deficiency (MedGen UID: 352844).

ABCB4

The ABCB4 gene is associated with autosomal recessive progressive familial intrahepatic cholestasis (MedGen UID: 356333). Additionally, the ABCB4 gene has preliminary evidence supporting a correlation with intrahepatic cholestasis of pregnancy (IPC) (MedGen UID: 767155) and low phospholipid associated cholelithiasis syndrome (LPAC) (PMID: 20422496).

ABCB7

The ABCB7 gene is associated with X-linked sideroblastic anemia and spinocerebellar ataxia (ASAT) (MedGen UID: 335078).

ABCC8

The ABCC8 gene is associated with both autosomal recessive and autosomal dominant forms of permanent neonatal diabetes mellitus (MedGen UID: 371484) and congenital hyperinsulinism (MedGen UID: 226230).

ABCD1

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

ABCD3

The ABCD3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with a disorder of bile acid biosynthesis (PMID: 25168382).

ABCD4

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

ABCG5

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

ABCG8

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

ACACA

The ACACA gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with a neurodevelopmental disorder (PMID: 28135719).

ACAD8

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

ACAD9

The ACAD9 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 20 (MC1DN20), also referred to as acyl-CoA dehydrogenase 9 (ACAD9) deficiency (MedGen UID: 370195).

ACADM

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

ACADS

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.

ACADSB

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), a biochemical phenotype which may or may not result in a clinical condition.

ACADVL

The ACADVL gene is associated with autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (MedGen UID: 854382).

ACAT1

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

ACBD5

The ACBD5 gene is associated with an autosomal recessive syndrome involving cone-rod dystrophy and white matter disease (PMID: 23105016, 27799409).

ACER3

The ACER3 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with leukodystrophy (MedGen UID 1622324).

ACO2

The ACO2 gene is associated with autosomal recessive infantile cerebellar-retinal degeneration (ICRD) (MedGen UID: 482822). Additionally, the ACO2 gene has preliminary evidence supporting a correlation with autosomal recessive optic atrophy (PMID: 25351951) and epilepsy (PMID: 26795593).

ACOX1

The ACOX1 gene is associated with autosomal recessive acyl-CoA oxidase deficiency (also known as pseudoneonatal adrenoleukodystrophy) (MedGen UID: 376636) and autosomal dominant axonal neuropathy (also known as Mitchell syndrome) (MedGen UID: 1714342).

ACOX2

The ACOX2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive bile acid synthesis defect (PMID: 27647924).

ACP5

The ACP5 gene is associated with autosomal recessive spondyloenchondrodysplasia with immune dysregulation (SED) (MedGen UID: 375009).

ACSF3

The ACSF3 gene is associated with autosomal recessive combined malonic and methylmalonic aciduria (CMAMMA) (PMID: 21841779), a biochemical phenotype which may or may not result in a clinical condition.

ACY1

The ACY1 gene is associated with autosomal recessive aminoacylase-1 deficiency (MedGen UID: 324393).

ADA

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

ADAR

The ADAR gene is associated with autosomal dominant dyschromatosis symmetrica hereditaria (DSH) (MedGen UID: 96071) and autosomal recessive Aicardi Goutieres syndrome (AGS) (MedGen UID: 761287).

ADCY3

The ADCY3 gene is associated with autosomal recessive ADCY3 deficiency (MedGen UID: 1638030). Additionally, the ADCY3 gene has preliminary evidence supporting a correlation with autism spectrum disorder (PMID: 28263302).

ADCY5

The ADCY5 gene is associated with autosomal dominant ADCY5-related dyskinesia (MedGen UID: 338280).

ADD3

The ADD3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with spastic quadriplegic cerebral palsy (MedGen UID: 442852) and multiple congenital anomalies (PMID: 29768408).

ADGRG1

The ADGRG1 gene is associated with autosomal recessive polymicrogyria (MedGen UID: 816735, 376107).

ADK

The ADK gene is associated with autosomal recessive adenosine kinase deficiency (MedGen UID: 482011).

ADSL

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

AFF4

The AFF4 gene is associated with autosomal dominant CHOPS syndrome (cognitive impairment and coarse facies, heart defects, obesity, pulmonary involvement, short stature and skeletal dysplasia) (MedGen UID: 894554).

AFG3L2

The AFG3L2 gene is associated with autosomal dominant spinocerebellar ataxia 28 (SCA28) (MedGen UID: 339941) and autosomal recessive spastic ataxia 5 (SPAX5) (MedGen UID: 482607).

AGA

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

AGK

The AGK gene is associated with autosomal recessive Sengers syndrome (MedGen UID: 395228). Additionally, the AGK gene has preliminary evidence supporting a correlation with autosomal recessive non-syndromic congenital cataracts (PMID: 22415731).

AGL

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

AGPS

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

AGXT

The AGXT gene is associated with autosomal recessive primary hyperoxaluria, type 1 (PH1) (MedGen UID: 75658).

AHCY

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

AHDC1

The AHDC1 gene is associated with autosomal dominant Xia-Gibbs syndrome (MedGen UID: 862856).

AHI1

The AHI1 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 798322) and autosomal recessive nonsyndromic retinitis pigmentosa (PMID: 28442542, 29186038).

AIFM1

The AIFM1 gene is associated with X-linked Charcot-Marie-Tooth disease type 4 (CMTX4), also known as Cowchock syndrome (MedGen UID: 162891), X-linked spondylometaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL) (MedGen UID: 335350) and X-linked deafness-5 (MedGen UID: 335096). In addition, the AIFM1 gene has preliminary evidence supporting a correlation with X-linked combined oxidative phosphorylation deficiency 6 (COXPD6) (MedGen UID: 463103).

AIMP1

The AIMP1 gene is associated with autosomal recessive hypomyelinating leukodystrophy 3 (HLD3) (MedGen UID: 342403).

AIMP2

The AIMP2 gene is associated with autosomal recessive hypomyelinating leukodystrophy-17 (HLD17) (MedGen UID: 1644557).

AK2

The AK2 gene is associated with autosomal recessive reticular dysgenesis (MedGen UID: 124417).

AKT2

The AKT2 gene is associated with autosomal dominant hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) (MedGen UID: 343429). Additionally, the AKT2 gene has preliminary evidence supporting a correlation with autosomal dominant diabetes mellitus, type II (MedGen UID: 41523).

AKT3

The AKT3 gene is associated with autosomal dominant megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MedGen UID: 863175) and autosomal dominant microcephaly (PMID: 32827175, 21800092).

ALAD

The ALAD gene is associated with autosomal recessive δ-Aminolevulinic acid dehydratase deficiency porphyria (ADP) (MedGen UID: 78659). Biochemical testing for urinary aminolevulinic acid (ALA) levels should be considered in individuals with clinical suspicion of ADP (PMID: 15767622, 26366103).

ALAS2

The ALAS2 gene is associated with X-linked sideroblastic anemia (MedGen UID:1638704) and X-linked erythropoietic protoporphyria (MedGen UID: 394385).

ALDH18A1

The ALDH18A1 gene is associated with autosomal dominant and recessive forms of cutis laxa (ADCL3 and ARCL3A, respectively) (MedGen UID: 899774, 1720006), the latter of which is also known as pyrroline-5-carboxylate synthetase (P5CS) deficiency. The ALDH18A1 gene is also associated with autosomal dominant and recessive forms of spastic paraplegia (SPG9A and SPG9B, respectively) (MedGen UID: 322007, 909058).

ALDH3A2

The ALDH3A2 gene is associated with autosomal recessive Sjögren-Larsson syndrome (SLS) (MedGen UID: 11443).

ALDH4A1

The ALDH4A1 gene is associated with autosomal recessive hyperprolinemia type 2 (MedGen UID: 78688).

ALDH5A1

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

ALDH6A1

The ALDH6A1 gene is associated with autosomal recessive methylmalonate semialdehyde dehydrogenase deficiency (MedGen UID: 481470).

ALDH7A1

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

ALDOA

The ALDOA gene is associated with autosomal recessive glycogen storage disease (GSD) XII (MedGen UID: 82895).

ALDOB

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

ALG1

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

ALG11

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

ALG12

The ALG12 gene is associated with autosomal recessive ALG12-congenital disorder of glycosylation (CDG-Ig) (MedGen UID 443954).

ALG13

The ALG13 gene is associated with X-linked congenital disorder of glycosylation ALG13-CDG-Is (MedGen UID: 76469) and developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (EIEE) (MedGen UID: 763818).

ALG14

The ALG14 gene is associated with autosomal recessive congenital myasthenic syndrome 15 (CMS15) (MedGen UID: 864033) and ALG14-congenital disorder of glycosylation (ALG14-CDG) (PMID: 28733338).

ALG2

The ALG2 gene is associated with autosomal recessive congenital myasthenic syndrome 14 (CMS14) (MedGen UID: 864034). Additionally, the ALG2 gene has preliminary evidence supporting a correlation with autosomal recessive ALG2-congenital disorder of glycosylation (CDG-Ii) (MedGen UID: 334618).

ALG3

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

ALG6

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

ALG8

The ALG8 gene is associated with autosomal recessive ALG8-congenital disorder of glycosylation (CDG-Ih) (MedGen UID 374956). Additionally, the ALG8 gene has preliminary evidence supporting a correlation with polycystic liver disease (PMID: 28375157).

ALG9

ALG9 is associated with autosomal recessive ALG9-congenital disorder of glycosylation (CDG-IL) (MedGen UID: 324794). Additionally, the ALG9 gene has preliminary evidence supporting a correlation with autosomal dominant polycystic kidney disease (PMID: 31395617).

ALMS1

The ALMS1 gene is associated with autosomal recessive Alstrom syndrome (MedGen UID: 78675).

ALPL

The ALPL gene is associated with autosomal dominant and recessive hypophosphatasia (MedGen UID: 43799).

ALS2

The ALS2 gene is associated with a spectrum of autosomal recessive conditions (MedGen UID: 489980): infantile-onset ascending hereditary spastic paraplegia (IAHSP) (MedGen UID: 419413), juvenile primary lateral sclerosis (JPLS) (MedGen UID: 342870), and juvenile amyotrophic lateral sclerosis 2 (ALS2) (MedGen UID: 349246).

AMACR

The AMACR gene is associated with autosomal recessive alpha-methylacyl-CoA racemase (AMACR) deficiency (MedGen UID: 482058).

AMN

The AMN gene is associated with autosomal recessive Imerslund-Gräsbeck syndrome (MedGen UID: 224934).

AMPD1

The AMPD1 gene is associated with autosomal recessive muscle AMP deaminase deficiency (MMDD) (MedGen UID: 811508).

AMPD2

The AMPD2 gene is associated with autosomal recessive pontocerebellar hypoplasia, type 9 (PCH9) (MedGen UID: 862791). Additionally, the AMPD2 gene has preliminary evidence supporting a correlation with spastic paraplegia 63 (SPG63) (MedGen UID:816625).

AMT

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

ANK3

The ANK3 gene is associated with an autosomal recessive intellectual disability syndrome (MedGen UID: 816002). Additionally, the ANK3 gene has preliminary evidence supporting a correlation with autosomal dominant Tourette syndrome (MedGen UID: 21219) and a spectrum of autosomal dominant neurodevelopmental and cardiac disorders (PMID: 28687526, 28991257).

AP1S1

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).

AP1S2

The AP1S2 gene is associated with X-linked recessive Pettigrew syndrome (MedGen UID: 162924).

AP4B1

The AP4B1 gene is associated with autosomal recessive hereditary spastic paraplegia 47 (SPG47) (MedGen UID: 481368).

AP4E1

The AP4E1 gene is associated with autosomal recessive hereditary spastic paraplegia 51 (SPG51) (MedGen UID: 462406).

AP4M1

The AP4M1 gene is associated with autosomal recessive hereditary spastic paraplegia 50 (SPG50) (MedGen UID: 442869). Additionally, the AP4M1 gene has preliminary evidence supporting a correlation with autosomal recessive neurodegeneration with brain iron accumulation (NBIA) (PMID: 29473051).

AP4S1

The AP4S1 gene is associated with autosomal recessive hereditary spastic paraplegia 52 (SPG52) (MedGen UID: 481373).

APOPT1

The APOPT1 gene is associated with autosomal recessive mitochondrial complex IV deficiency (MedGen UID: 75662).

APP

The APP gene is associated with autosomal dominant Alzheimer disease type 1 (AD1) (MedGen UID: 1853) and APP-related cerebral amyloid angiopathy (CAA) (MedGen UID: 414044).

APPL1

The APPL1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with maturity onset diabetes of the young (MODY) (PMID: 26073777).

APRT

The ARPT gene is associated with autosomal recessive adenine phosphoribosyltransferase (APRT) deficiency (MedGen UID: 82772).

APTX

The APTX gene is associated with autosomal recessive ataxia with oculomotor apraxia type 1 (AOA1) (MedGen UID: 395301).

ARCN1

The ARCN1 gene is associated with autosomal dominant rhizomelic short stature with microcephaly, micrognathia and developmental delay (SRMMD) (MedGen UID: 934653).

ARG1

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

ARHGAP31

The ARHGAP31 gene is associated with autosomal dominant Adams-Oliver syndrome (AOS) (MedGen UID: 472018). Additionally, the ARHGAP31 gene has preliminary evidence supporting a correlation with autosomal dominant left ventricular outflow tract obstruction (PMID: 27760138).

ARHGEF9

The ARHGEF9 gene is associated with X-linked recessive hereditary hyperekplexia /developmental and epileptic encephalopathy (DEE8) (MedGen UID: 375581).

ARL6

The ARL6 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019) non-syndromic retinitis pigmentosa (RP) (MedGen UID: 462158).

ARNT2

The ARNT2 gene is associated with autosomal recessive Webb-Dattani syndrome (MedGen UID: 863145).

ARSA

The ARSA gene is associated with autosomal recessive metachromatic leukodystrophy (MLD) (MedGen UID: 6071). Biochemical testing for arylsulfatase A (ARSA) enzyme activity and urine sulfatides should be considered in individuals with clinical suspicion of metachromatic leukodystrophy (PMIDs: 4953831, 4192207, 6054756).

ARSB

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

ARX

The ARX gene is associated with X-linked recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 483052), or West syndrome, and X-linked lissencephaly with ambiguous genitalia (XLAG) (MedGen UID: 375832).

ASAH1

The ASAH1 gene is associated with autosomal recessive acid ceramidase deficiency, also known as Farber lipogranulomatosis or Farber disease (MedGen UID: 78654), distal osteolysis (PMID: 26945816), polyarticular arthritis and SMA (PMID: 27650050), and spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME), also known as Jankovic Rivera syndrome (MedGen UID: 371854).

ASL

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

ASNS

The ASNS gene is associated with autosomal recessive asparagine synthetase (ASNS) deficiency (MedGen UID: 816301).

ASPA

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

ASS1

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

ASXL1

The ASXL1 gene is associated with autosomal dominant Bohring-Opitz syndrome (BOS), which is also known as C-like syndrome (MedGen UID: 208678).

ASXL2

The ASXL2 gene is associated with autosomal dominant Shashi-Pena syndrome (MedGen UID: 934639).

ATAD1

The ATAD1 gene is associated with autosomal recessive hyperekplexia-4 (MedGen UID: 1642659).

ATIC

The ATIC gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive AICA-ribosiduria (MedGen UID: 1372335) and complex congenital heart defects (PMID: 28991257).

ATM

The ATM gene is associated with autosomal dominant predisposition to breast, pancreatic (PMID: 26483394) and possibly prostate cancer (PMID: 27989354, 28657667) in addition to autosomal recessive ataxia-telangiectasia (A-T) (MedGen UID: 439). There is also preliminary evidence suggesting ATM is associated with autosomal dominant predisposition to other cancer types including stomach (PMID: 30657113), ovarian (PMID: 28888541, 30733081), bladder (PMID: 26662178, 31844177) and colon (PMID: 30862463); although available evidence is insufficient to make a determination regarding these relationships.

ATP13A2

The ATP13A2 gene is associated with autosomal recessive Kufor-Rakeb syndrome (KRS) (MedGen UID: 338281), also known as Parkinson disease 9 (PARK9), and autosomal recessive hereditary spastic paraplegia (SPG78) (MedGen UID: 934629). Additionally, the ATP13A2 gene has preliminary evidence supporting a correlation with autosomal recessive neuronal ceroid lipofuscinoses (PMID: 22388936) and amyotrophic lateral sclerosis (PMID: 30992063).

ATP1A3

The ATP1A3 gene is associated with autosomal dominant dystonia 12 (DYT12) (MedGen UID: 358384), cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS) syndrome (MedGen UID: 318633), and alternating hemiplegia of childhood type 2 (AHC2) (MedGen UID: 766702).

ATP2A2

The ATP2A2 gene is associated with autosomal dominant acrokeratosis verruciformis of Hopf (MedGen UID: 75589) and autosomal dominant Darier disease, also known as keratosis follicularis (MedGen UID: 5956).

ATP5A1

The ATP5A1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency-22 (COXPD22) (MedGen UID: 322999, 863499) and schizophrenia (PMID: 24463508).

ATP5D

The ATP5F1D gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex V (ATP synthase) deficiency (MedGen UID: 1648429).

ATP5E

The ATP5E gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex V (ATP synthase) deficiency nuclear type 3 (MedGen UID: 477906).

ATP6AP1

The ATP6AP1 gene is associated with X-linked recessive ATP6AP1 deficiency (MedGen UID: 934786).

ATP6AP2

The ATP6AP2 gene is associated with X-linked intellectual disability with epilepsy (MRXE) (MedGen UID: 337257) and glycosylation disorder with immunodeficiency, liver disease, psychomotor impairment and cutis laxa (GILPC) (PMID: 29127204). Additionally, the ATP6AP2 gene has preliminary evidence supporting a correlation with X-linked Parkinsonism with spasticity (PMID: 23595882, 26467484) and an infantile neurodegenerative condition (PMID: 30985297).

ATP6V0A2

ATP6V0A2 is associated with autosomal recessive ATP6V0A2-associated cutis laxa type 2 (ATP6V0A2-CDG) (MedGen UID 82795, 98030).

ATP6V1A

The ATP6V1A gene is associated with autosomal dominant childhood onset epileptic encephalopathy (EEOC) (MedGen UID: 1626137) and autosomal recessive cutis laxa type IID (ARCL2D) (MedGen UID: 1376619).

ATP6V1E1

The ATP6V1E1 gene is associated with autosomal recessive cutis laxa type IIC (ARCL2C) (MedGen UID: 1385755).

ATP7A

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).

ATP7B

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

ATP8A2

The ATP8A2 gene is associated with autosomal recessive cerebellar ataxia, intellectual disability and dysequilibrium syndrome 4 (CAMRQ4) (MedGen UID: 815307).

ATPAF2

The ATPAF2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex V (ATP synthase) deficiency nuclear type 1 (MedGen UID: 398105).

ATRN

The ATRN gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hypomyelinating leukodystrophy (PMID: 28493104).

AUH

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

B
B3GALNT2

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

B3GALT6

The B3GALT6 gene is associated with a spectrum of autosomal recessive conditions with features of both spondyloepimetaphyseal dysplasia (MedGen UID: 98148) and Ehlers-Danlos syndrome (MedGen UID: 815540).

B3GAT3

The B3GAT3 gene is associated with the autosomal recessive multiple joint dislocations, short stature and craniofacial dysmorphism with or without congenital heart defects (JDSCD) (MedGen UID: 480034).

B3GLCT

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

B4GALNT1

The B4GALNT1 gene is associated with autosomal recessive hereditary spastic paraplegia 26 (SPG26) (MedGen UID: 373138).

B4GALT1

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).

B4GALT7

The B4GALT7 gene is associated with autosomal recessive Ehlers-Danlos syndrome (EDS), spondylodysplastic type 1 (MedGen UID: 1646889).

B4GAT1

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

BAG3

The BAG3 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 462643), myofibrillar myopathy 6 (MFM6) (MedGen UID: 414119) and Charcot-Marie-Tooth disease type 2 (PMID: 28754666).

BBIP1

The BBIP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 807640).

BBS1

The BBS1 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 422452) and non-syndromic retinitis pigmentosa (PMID: 23143442, 27032803, 21520335).

BBS10

The BBS10 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347909).

BBS12

The BBS12 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347910).

BBS2

The BBS2 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 422453) and non-syndromic retinitis pigmentosa (RP) (MedGen UID: 906896).

BBS4

The BBS4 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 423627). Additionally, the BBS4 gene has preliminary evidence supporting a correlation with autosomal recessive inherited retinal disease (PMID: 22219648, 26355662).

BBS5

The BBS5 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 856141) and nonsyndromic retinitis pigmentosa (PMID: 28041643, 24154662).

BBS7

The BBS7 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347180).

BBS9

The BBS9 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347182). Additionally, the BBS9 gene has preliminary evidence supporting a correlation with autosomal recessive macular dystrophy (PMID: 28981474).

BCAP31

The BCAP31 gene is associated with X-linked recessive deafness, dystonia, and cerebral hypomyelination (DDCH) syndrome (MedGen UID: 812964).

BCAT2

The BCAT2 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with presumed autosomal recessive hypervalinemia or hyperleucine-isoleucinemia (PMID: 30626930, 25653144).

BCKDHA

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

BCKDHB

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

BCKDK

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

BCL11B

The BCL11B gene is associated with autosomal dominant BCL11B deficiency (MedGen UID: 934623).

BCS1L

The BCS1L gene is associated with autosomal recessive mitochondrial complex III deficiency, nuclear type 1 (MC3DN1) (MedGen UID: 762097), Bjornstad syndrome (MedGen UID: 82728), and GRACILE syndrome (MedGen UID: 400428).

BDNF

The BDNF gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Wilm’s tumor, aniridia, genitourinary anomalies, Intellectual disability and obesity (WAGRO) syndrome (PMID: 18753648).

BLK

The BLK gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with maturity onset diabetes of the young, type 11 (PMID: 28993341, 29439679, 30191644).

BMP4

The BMP4 gene is associated with autosomal dominant microphthalmia (MCOP) (MedGen UID: 355268). Additionally, the BMP4 gene has preliminary evidence supporting a correlation with autosomal dominant orofacial clefting (PMID: 19249007, 21340693) tooth agenesis (PMID: 31128441), and Stickler syndrome (PMID: 30568244).

BOLA3

The BOLA3 gene is associated with autosomal recessive multiple mitochondrial dysfunctions syndrome 2 (MMDS2) (MedGen UID: 482008).

BRAT1

The BRAT1 gene is associated with a spectrum of autosomal recessive conditions including neonatal-lethal rigidity and multifocal seizure syndrome (RFMSL) (MedGen UID: 482659) and neurodevelopmental disorder with cerebellar atrophy with or without seizures (NEDCAS) (MedGen UID: 1648373).

BSCL2

The BSCL2 gene is associated with a spectrum of autosomal dominant neurological conditions, including Charcot-Marie-Tooth disease type 2 (CMT2) (PMID: 23142943), also known as distal hereditary motor neuropathy type 5 (HMN5) (MedGen UID: 318838), and spastic paraplegia 17 (SPG17), also known as Silver syndrome (MedGen UID: 419034). It is also associated with a spectrum of autosomal recessive conditions including congenital generalized lipodystrophy, type 2 (CGL2) (MedGen UID: 318593) and progressive encephalopathy with or without lipodystrophy (PELD) (MedGen UID: 863137).

BSND

The BSND gene is associated with autosomal recessive Bartter syndrome type 4a (BARTS4A) (MedGen UID: 355430) and non-syndromic deafness (PMID: 19646679, 24949729).

BTD

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

C
C12orf65

The C12ORF65 gene is associated with autosomal recessive hereditary spastic paraplegia 55 (SPG55) (MedGen UID: 761342) and autosomal recessive combined oxidative phosphorylation deficiency 7 (COXPD7) (MedGen UID: 462151).

C19orf12

The C19orf12 gene is associated with autosomal dominant and recessive mitochondrial membrane protein-associated neurodegeneration (MPAN) (MedGen UID: 482001). Additionally, the C19orf12 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia 43 (SPG43) (MedGen UID: 760531).

C19orf70

The C19orf70 gene is associated with autosomal recessive mitochondrial hepato-encephalopathy (MedGen UID: 941251).

C1GALT1C1

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).

C1QBP

C1QBP is associated with autosomal recessive combined oxidative phosphorylation deficiency 33 (COXPD33) (MedGen UID: 1623699).

C8orf37

The C8orf37 gene is associated with autosomal recessive cone-rod dystrophy (CRD) (MedGen UID: 482675) and retinitis pigmentosa (RP) (MedGen UID: 20551). Additionally, the C8orf37 gene has preliminary evidence supporting a correlation with autosomal recessive Bardet Biedl syndrome (BBS) (PMID: 27008867).

CA5A

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

CACNA1A

The CACNA1A gene is associated with autosomal dominant developmental and epileptic encephalopathy (DEE), also known as early infantile epileptic encephalopathy (EIEE) (MedGen UID: 934683), episodic ataxia type 2 (EA2) (MedGen UID: 314039), and familial hemiplegic migraine type 1 (FHM1) (MedGen UID: 331388). Additionally, the CACNA1A gene is associated with autosomal dominant spinocerebellar ataxia 6 (SCA6) (MedGen UID: 148458), which is caused by trinucleotide repeat expansion. Trinucleotide repeat expansions are not evaluated by this assay.

CACNA1C

The CACNA1C gene is associated with autosomal dominant Timothy syndrome (TS), also known as long QT syndrome (LQTS), type 8 (MedGen UID: 331395). The CACNA1C gene has also been associated with a combination of LQTS, hypertrophic cardiomyopathy (HCM) and congenital heart defects (PMID: 26253506). Additionally, the CACNA1C gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome and short QT syndrome (SQTS) (PMID: 17224476).

CACNA1D

The CACNA1D gene is associated with autosomal recessive sinoatrial node dysfunction and deafness (MedGen UID: 766932) and autosomal dominant primary aldosteronism with seizures and neurologic abnormalities (PASNA) (MedGen UID: 815939). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (PMID: 25620733, 22495309, 22542183).

CAD

The CAD gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 904125). Additionally, the CAD gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder with abnormal glycosylation, and congenital heart disease with neurodevelopmental disability (PMID: 25678555, 28191890, 26785492).

CANT1

The CANT1 gene is associated with autosomal recessive Desbuquois dysplasia (MedGen UID: 98479).

CARS2

The CARS2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 27 (COXPD27) (MedGen UID: 322999).

CASR

The CASR gene is associated with a spectrum of disorders including autosomal dominant familial hypocalciuric hypercalcemia (FHH) (MedGen UID: 369200), autosomal dominant hypocalcemia (ADH) (MedGen UID: 87438), ADH with Bartter syndrome (MedGen UID: 811594), autosomal recessive neonatal severe hyperparathyroidism (NSHPT) (MedGen UID: 331326), and possibly familial isolated hyperparathyroidism (FIHP) (PMID: 14985373, 21521328). Additionally, there is data suggesting CASR is associated with autosomal dominant idiopathic generalized epilepsy (PMID: 18756473) and chronic pancreatitis (PMID: 14641934, 16497624). The evidence, however, is insufficient to make a determination regarding these relationships.

CBS

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

CCDC115

The CCDC115 gene is associated with autosomal recessive congenital disorder of glycosylation type IIo (CDG2O) (MedGen UID: 906792).

CCDC88A

The CCDC88A gene is associated with autosomal recessive progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome (PEHO-like syndrome) (MedGen UID: 337956). Additionally, the CCDC88A gene has preliminary evidence supporting a correlation with autistic spectrum/developmental delay (PMID: 28191890, 28135719).

CD320

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).

CDKL5

The CDKL5 gene is associated with X-linked dominant early infantile epileptic encephalopathy/West syndrome (MedGen UID: 326463), atypical Rett syndrome (PMID: 16015284, 15689447), and Angelman-like syndrome (MedGen UID: 472054).

CDKN1C

The CDKN1C gene is associated with autosomal dominant Beckwith-Wiedemann syndrome (BWS) (MedGen UID: 2562) and IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) (MedGen UID: 337364).

CEP164

The CEP164 gene is associated with a spectrum of autosomal recessive conditions including nephronophthisis (MedGen UID: 762112) and Senior Loken syndrome (PMID: 22863007).

CEP19

The CEP19 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 816654).

CEP290

The CEP290 gene is associated with autosomal recessive Leber congenital amaurosis (MedGen UID: 346672), Joubert syndrome (MedGen UID: 347545), and Bardet-Biedl syndrome (MedGen UID: 393033).

CEP89

The CEP89 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency (PMID: 24038936) and polycystic kidney disease (PMID: 29527510).

CFTR

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

CHAT

The CHAT gene is associated with autosomal recessive congenital myasthenic syndrome 6 (CMS6) (MedGen UID: 140751).

CHCHD10

The CHCHD10 gene is associated with autosomal dominant frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2) (MedGen UID: 863085) and spinal muscular atrophy, Jokela type (SMAJ) (MedGen UID: 767312). Additionally, the CHCHD10 gene has preliminary evidence supporting a correlation with autosomal dominant isolated mitochondrial myopathy (IMMD) (MedGen UID: 863950).

CHCHD2

The CHCHD2 gene is associated with autosomal dominant Parkinson disease 22 (PARK22) (MedGen UID: 907886).

CHIT1

The CHIT1 gene is associated with autosomal recessive chitotriosidase deficiency (MedGen UID: 481532). Chitotriosidase (chito) is an enzyme produced mainly by activated macrophages. Chito is extremely elevated in untreated individuals with several lysosomal storage disorders, such as Gaucher disease and Niemann-Pick disease types A, B, and C (PMID: 17869233, 26975750). Chitotriosidase elevations generally correlate with disease burden. Plasma chito levels are often utilized as a biomarker in the diagnosis and management of these individuals (PMID: 17464953, 26975750). An increasing body of evidence also exists for the utility of chitotriosidase levels in various body fluids as biomarker for other, non-lysosomal, disorders associated with inflammation and macrophage activation, such as sarcoidosis (PMID: 24594143, 31906975), interstitial lung disease (PMID: 31092718, 17631992), and neuroinflammatory or neurodegenerative disorders (PMID: 22014002, 25563799). While chito deficiency is not associated with any known clinical disease, 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 (PMID: 24831585, 26975750).

CHMP2B

The CHMP2B gene is associated with autosomal dominant frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (FTDALS7), previously known as amyotrophic lateral sclerosis 17 (ALS17) (MedGen UID: 373010).

CHRNA1

The CHRNA1 gene is associated with autosomal dominant and recessive forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 903294, 909200). Additionally, the CHRNA1 gene has preliminary evidence supporting a correlation with autosomal recessive lethal multiple pterygium syndrome (LMPS) (MedGen UID: 381473).

CHST14

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

CHST3

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

CHST6

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

CHSY1

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

CLCN2

The CLCN2 gene is associated with autosomal recessive leukoencephalopathy with ataxia (MedGen UID: 1638681) and autosomal dominant hyperaldosteronism (MedGen UID: 340137).

CLCN4

The CLCN4 gene is associated with X-linked developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (PMID: 27550844) and X-linked intellectual disability (MedGen UID: 923000).

CLCN5

The CLCN5 gene is associated with X-linked Dent disease complex (MedGen UID: 336322).

CLCN7

The CLCN7 gene is associated with autosomal recessive osteopetrosis (MedGen UID: 370598), autosomal dominant osteopetrosis (MedGen UID: 465707), and autosomal dominant hypopigmentation, organomegaly, and delayed myelination and development (HOD) (MedGen UID: 1672512).

CLCNKB

The CLCNKB gene is associated with autosomal recessive Bartter syndrome type 3 (BSIII) (MedGen UID: 335399) and Gitelman syndrome (PMID: 26920127, 24830959).

CLDN16

The CLDN16 gene is associated with autosomal recessive familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) (MedGen UID: 120640).

CLDN19

The CLDN19 gene is associated with autosomal recessive familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) (MedGen UID: 344503).

CLN2 (TPP1)

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

CLN3

The CLN3 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 3 (CLN3) (MedGen UID: 155549) and non-syndromic retinitis pigmentosa (PMID: 28542676, 24154662).

CLN5

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

CLN6

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

CLN8

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

CLP1

The CLP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with pontocerebellar hypoplasia (PMID: 28097321, 24766809).

CLPB

The CLPB gene is associated with autosomal recessive 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) (MedGen UID: 907853).

CLPP

The CLPP gene is associated with autosomal recessive Perrault syndrome (MedGen UID: 814744).

CLPX

The CLPX gene is associated with autosomal dominant erythropoietic protoporphyria (MedGen UID: 1645733).

CNNM2

The CNNM2 gene is associated with autosomal dominant and autosomal recessive hypomagnesemia with seizures and intellectual impairment (MedGen UID: 906582). Additionally, the CNNM2 gene has preliminary evidence supporting a correlation with autosomal dominant autism (PMID: 28191890).

CNTNAP1

The CNTNAP1 gene is associated with autosomal recessive lethal congenital contracture syndrome 7 (LCCS7) (MedGen UID: 894160) and congenital hypomyelinating neuropathy 3 (CHN3) (MedGen UID: 1648417).

CNTNAP2

The CNTNAP2 gene is associated with autosomal recessive intellectual disability disorders: cortical dysplasia-focal epilepsy syndrome (CDFES) (MedGen UID: 355859) and Pitt-Hopkins-like syndrome (PMID: 19896112).

COA3

The COA3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with presumed autosomal recessive mitochondrial complex IV deficiency (PMID: 25604084).

COA5

The COA5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive cardioencephalomyopathy (PMID: 21457908).

COA6

The COA6 gene is associated with autosomal recessive cardioencephalomyopathy due to mitochondrial complex IV deficiency (MedGen UID: 388753).

COA7

The COA7 gene is associated with autosomal recessive spinocerebellar ataxia with axonal neuropathy-3 (SCAN3) (MedGen UID: 1673607).

COASY

The COASY gene is associated with autosomal recessive COASY protein-associated neurodegeneration (CoPAN) (MedGen UID: 816560).

COG1

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

COG2

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

COG4

COG4 is associated with autosomal recessive COG4-congenital disorder of glycosylation (CDG-IIj) (MedGen UID: 462086) and autosomal dominant Saul-Wilson syndrome (SWILS) (MedGen UID: 722057).

COG5

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

COG6

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

COG7

The COG7 gene is associated with autosomal recessive COG7-congenital disorder of glycosylation (CDG-IIe) (MedGen UID: 419311).

COG8

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

COL4A1

The COL4A1 gene is associated with a spectrum of overlapping autosomal dominant conditions including brain small vessel disease with or without ocular anomalies (BSVD1) (MedGen UID: 1647320), which is sometimes referred to as porencephaly, hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) (MedGen UID: 382033), tortuosity of retinal arteries (RATOR) (MedGen UID: 356748), and pontine microangiopathy and leukoencephalopathy (PADMAL) (MedGen UID: 1684781).

COL4A2

The COL4A2 gene is associated with autosomal dominant porencephaly 2, also known as brain small vessel disease 2 (BSVD2) (MedGen UID: 482600).

COPA

The COPA gene is associated with autosomal dominant autoimmune interstitial lung, joint, and kidney disease (AILJK) (MedGen: 452265).

COPB2

The COPB2 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with congenital anomalies and neurodevelopmental disorder (PMID: 10191085, 28191890, 29036432).

COQ2

The COQ2 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 764868).

COQ4

The COQ4 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 833081).

COQ6

The COQ6 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 766263).

COQ7

The COQ7 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 852232).

COQ8A

The COQ8A gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 436985).

COQ8B

The COQ8B gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 816295).

COQ9

The COQ9 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 766288).

COX10

The COX10 gene is associated with autosomal recessive complex IV deficiency (MedGen UID: 75662).

COX14

The COX14 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex IV deficiency (PMID: 22243966).

COX15

The COX15 gene is associated with autosomal recessive complex IV deficiency (MedGen UID: 346817).

COX20

The COX20 gene is associated with autosomal recessive mitochondrial complex IV deficiency (MedGen UID: 75662).

COX4I2

The COX4I2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive pancreatic insufficiency-anemia-hyperostosis syndrome (PMID: 19268275).

COX6A1

The COX6A1 gene is associated with autosomal recessive intermediate Charcot-Marie-Tooth disease D (CMTRID) (MedGen UID: 863466).

COX6B1

The COX6B1 gene is associated with autosomal recessive mitochondrial complex IV deficiency (MedGen UID: 75662).

COX7B

The COX7B gene is associated with X-linked dominant linear skin defects with multiple congenital anomalies (LSDMCA) (MedGen UID: 763835).

COX8A

The COX8A gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with mitochondrial complex IV deficiency (MedGen UID: 75662).

CP

The CP gene is associated with autosomal recessive aceruloplasminemia (MedGen UID: 168057). Additionally, the CP gene has preliminary evidence supporting a correlation with autosomal dominant aceruloplasminemia (PMID: 10206163).

CPE

The CPE gene is associated with autosomal recessive CPE deficiency (PMID: 26120850). Additionally, the CPE gene has preliminary evidence supporting a correlation with Alzheimer’s disease and depression (PMID: 27922637).

CPLX1

The CPLX1 gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 1646846).

CPOX

The CPOX gene is associated with autosomal dominant hereditary coproporphyria (HCP) (MedGen UID: 57931) and autosomal recessive harderoporphyria (MedGen UID: 137981). Biochemical testing for urinary aminolevulinic acid (ALA) and/or porphobilinogen (PBG) levels should be considered in individuals with clinical suspicion of HCP (PMID: 15767622, 26366103).

CPS1

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

CPT1A

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

CPT2

The CPT2 gene is associated with autosomal recessive carnitine palmitoyltransferase II (CPTII or CPT2) deficiency (MedGen UID: 371584, 322211, 318896). Additionally, the CPT2 gene has preliminary evidence supporting a correlation with autosomal dominant malignant hyperthermia (PMID: 19762733, 10873395).

CRAT

The CRAT gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with presumed autosomal recessive neurodegeneration with brain iron accumulation-8 (MedGen UID: 1645224) and carnitine acetyltransferase deficiency (PMID: 31448845).

CREBBP

The CREBBP gene is associated with autosomal dominant Rubinstein-Taybi syndrome 1 (RSTS1) (MedGen UID: 48517) and is commonly deleted in the recurrent 16p13.3 microdeletion syndrome (OMIM: 610543), a severe form of RSTS resulting from a contiguous gene deletion involving CREBBP as well as other neighboring genes.

CSF1R

The CSF1R gene is associated with autosomal dominant hereditary diffuse leukoencephalopathy with spheroids (HDLS) (MedGen UID: 777989) and autosomal recessive brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) (MedGen UID: 1678789).

CSGALNACT1

The CSGALNACT1 gene is associated with an autosomal recessive skeletal dysplasia (PMID: 27599773, 31325655).

CSTB

The CSTB gene is associated with autosomal recessive Unverricht-Lundborg syndrome (EPM1) (MedGen UID: 155923), a subtype of progressive myoclonic epilepsy. Most cases of EPM1 are due to a dodecamer repeat expansion, which is not analyzed by this test.

CTBP1

The CTBP1 gene is associated with autosomal dominant hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS) (MedGen UID: 1647427).

CTC1

The CTC1 gene is associated with autosomal recessive cerebroretinal microangiopathy with calcifications and cysts type 1 (CRMCC1), also known as Coats plus syndrome (MedGen UID: 1636142).

CTDP1

The CTDP1 gene is associated with autosomal recessive congenital cataracts with facial dysmorphism and neuropathy (CCFDN) (Medgen UID: 346973).

CTNNB1

The CTNNB1 gene is associated with an autosomal dominant intellectual disability syndrome (MedGen UID: 767363) and familial exudative vitreoretinopathy (FEVR) (MedGen UID: 1626650). Additionally, the CTNNB1 gene has preliminary evidence supporting a correlation with autosomal dominant Rett-like syndrome (PMID: 28856709) and sclerosing bone dysplasia and adrenocortical neoplasia (PMID: 31970420).

CTNS

The CTNS gene is associated with autosomal recessive cystinosis, including nephropathic, intermediate and ocular non-nephropathic types (MedGen UIDs: 1207, 347449, 75701).

CTSA

The CTSA gene is associated with autosomal recessive galactosialidosis (MedGen UID: 82779). Additionally, the CTSA gene has preliminary evidence supporting a correlation with autosomal dominant cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL) (PMID: 27664989, 28702507, 28334938).

CTSB

The CTSB gene is associated with autosomal dominant keratolytic winter erythema (MedGen UID: 98359).

CTSD

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

CTSF

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).

CTSK

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

CUBN

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

CUL4B

The CUL4B gene is associated with X-linked recessive Cabezas type intellectual disability syndrome (MedGen UID: 337334).

CYC1

The CYC1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with mitochondrial complex III deficiency, nuclear type 6 (MC3DN6) (MedGen UID: 815883).

CYCS

The CYCS gene is associated with autosomal dominant thrombocytopenia (MedGen UID: 394329).

CYP27A1

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

CYP27B1

The CYP27B1 gene is associated with autosomal recessive vitamin D-dependent rickets, type I (VDDR1A) (MedGen UID: 124344).

CYP2R1

The CYP2R1 gene is associated with autosomal recessive vitamin D hydroxylation-deficient rickets type 1B (MedGen UID: 374020). Additionally, the CYP2R1 gene has preliminary evidence supporting a correlation with Vogt-Koyanagi-Harada disease (PMID: 27716192).

CYP2U1

The CYP2U1 gene is associated with autosomal recessive hereditary spastic paraplegia 56 (SPG56) (MedGen UID: 761343).

CYP7B1

The CYP7B1 gene is associated with autosomal recessive hereditary spastic paraplegia type 5A (SPG5A) (MedGen UID: 376521) and congenital bile acid synthesis defect type 3 (CBAS3) (MedGenUID: 462497).

D
D2HGDH

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

DAG1

The DAG1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A9 (MDDGA9) (MedGen UID: 851332) and type C9 (MDDGC9) (MedGen UID: 462534).

DARS

The DARS gene is associated with autosomal recessive leukodystrophy: hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL) (MedGen UID: 815338).

DARS2

The DARS2 gene is associated with autosomal recessive leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) (MedGen UID: 370845).

DBH

The DBH gene is associated with autosomal recessive dopamine beta-hydroxylase deficiency (MedGen UID: 90992).

DBT

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

DCAF17

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

DCTN1

The DCTN1 gene is associated with a spectrum of autosomal dominant neurological conditions including Perry syndrome (MedGen UID: 357007), distal hereditary motor neuropathy type VIIB (HMN7B) (MedGen UID: 375157), and amyotrophic lateral sclerosis 1 (ALS1) (MedGen UID: 400169).

DDC

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

DDHD2

The DDHD2 gene is associated with autosomal recessive hereditary spastic paraplegia 54 (SPG54) (MedGen UID: 761341).

DDOST

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).

DEAF1

The DEAF1 gene is associated with autosomal dominant and autosomal recessive neurodevelopmental disorders (MedGen UID: 862851, 934650).

DECR1

The DECR1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with 2,4-dienoyl-CoA reductase 1 deficiency (PMID: 2332510, 24847004).

DEGS1

The DEGS1 gene is associated with autosomal recessive hypomyelinating leukodystrophy (HLD) (MedGen UID: 941380).

DEPDC5

The DEPDC5 gene is associated with autosomal dominant familial focal epilepsy with variable foci (FFEVF) (MedGen UID: 348951) and autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) (MedGEN UID: 432738).

DES

The DES gene is associated with autosomal dominant and recessive myofibrillar myopathy 1 (MFM1) (MedGen UID: 330449). It is also associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 387998). Additionally, the DES gene has preliminary evidence supporting a correlation with autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) (PMID: 23687351).

DGKZ

The DGKZ gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive atypical cerebral palsy (PMID: 30542205).

DGUOK

The DGUOK gene is associated with a spectrum of autosomal recessive mitochondrial disorders including mitochondrial DNA depletion syndrome 3 (MTDPS3) (MedGen UID: 462863) and progressive external ophthalmoplegia with mitochondrial DNA deletions 4 (PEOB4) (MedGen UID: 934700).

DHCR7

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

DHDDS

The DHDDS gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 462577) and autosomal dominant developmental and epileptic encephalopathy syndrome (MedGen UID: 1641343). In addition, there is preliminary evidence supporting a correlation with DHDDS-congenital disorder of glycosylation (CDG-Ibb) (PMID: 27343064).

DHFR

The DHFR gene is associated with autosomal recessive megaloblastic anemia due to dihydrofolate reductase deficiency (MedGen UID: 462555).

DHTKD1

The DHTKD1 gene is associated with autosomal recessive 2-aminoadipic 2-oxoadipic aciduria (AMOXAD) (MedGen UID: 395350), a biochemical phenotype which may or may not result in a clinical condition. The DHTKD1 gene is also associated with autosomal dominant Charcot-Marie-Tooth disease type 2Q (CMT2Q) (MedGen UID: 767280). Additionally, the DHTKD1 gene has preliminary evidence supporting a correlation with autosomal recessive steroid resistant nephrotic syndrome (PMID: 29127259).

DLAT

The DLAT gene is associated with autosomal recessive pyruvate dehydrogenase E2 (PDHE2) deficiency (MedGen UID: 343386).

DLD

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

DLL4

The DLL4 gene is associated with autosomal dominant Adams-Oliver syndrome (MedGen UID: 908556).

DMD

The DMD gene is associated with X-linked Duchenne Muscular Dystrophy (DMD) (MedGen UID: 3925), Becker Muscular Dystrophy (BMD) (MedGen UID: 182959) and dilated cardiomyopathy 3B (CMD3B) (MedGen UID: 777148).

DMP1

The DMP1 gene is associated with autosomal recessive hypophosphatemic rickets (ARHR) (MedGen UID: 137975).

DMXL2

The DMXL2 gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 945899). Additionally, the DMXL2 gene has preliminary evidence supporting a correlation with autosomal dominant deafness (MedGen UID: 1621646), as well as a spectrum of autosomal dominant and recessive neurodevelopmental disorders (PMID: 25248098, 28191890, 28856709).

DNA2

The DNA2 gene is associated with autosomal dominant progressive external ophthalmoplegia (PEO) with mitochondrial deletions (MedGen UID: 767513) and autosomal recessive Seckel syndrome (SCKL) (MedGen UID: 786079).

DNAJC12

The DNAJC12 gene is associated with autosomal recessive hyperphenylalaninemia (MedGen UID: 910649).

DNAJC19

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

DNAJC5

The DNAJC5 gene is associated with autosomal dominant neuronal ceroid lipofuscinosis type 4 (CLN4) (MedGen UID: 320287).

DNAJC6

The DNAJC6 gene is associated with autosomal recessive juvenile-onset Parkinson disease 19 (PARK19) (MedGen UID: 816141).

DNM1L

The DNM1L gene is associated with autosomal dominant and autosomal recessive encephalopathy due to defective mitochondrial and peroxisomal fission 1 and autosomal dominant optic atrophy 5 (MedGen UIDs: 482290; 377837).

DNM2

The DNM2 gene is associated with autosomal dominant centronuclear myopathy (CNM1) (MedGen UID: 322437) and dominant intermediate Charcot-Marie-Tooth disease type B (CMTDIB) (MedGen UID: 338346). Additionally, the DNM2 gene has preliminary evidence supporting a correlation with autosomal recessive lethal congenital contracture syndrome 5 (LCCS5) (MedGen UID: 815602).

DNMT1

The DNMT1 gene is associated with autosomal dominant hereditary sensory neuropathy type 1E (HSN1E) (MedGen UID: 481515) and cerebellar ataxia, deafness, and narcolepsy (ADCADN) (MedGen UID: 813625).

DOCK6

The DOCK6 gene is associated with autosomal recessive Adams-Oliver syndrome (AOS) (MedGen UID: 481812).

DOLK

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

DPAGT1

The DPAGT1 gene is associated with autosomal recessive congenital myasthenic syndrome 13 (CMS13) (MedGen UID: 766559) and DPAGT1-congenital disorder of glycosylation (CDG-Ij) (MedGen UID: 419694).

DPM1

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

DPM2

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

DPM3

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

DPYS

The DPYS gene is associated with autosomal recessive dihydropyrimidinase (DPYS) deficiency (MedGen UID: 83353).

DSE

The DSE gene is associated with autosomal recessive Ehlers-Danlos syndrome, musculocontractural type 2 (EDSMC2, MedGen UID: 356497).

DYRK1A

The DYRK1A gene is associated with autosomal dominant intellectual disability 7 (IDD7) (MedGen UID: 481469).

DYRK1B

The DYRK1B gene is associated with autosomal dominant abdominal obesity-metabolic syndrome 3 (AOMS3) (MedGen UID: 1640883).

E
EARS2

The EARS2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 12 (COXPD12) (MedGen UID: 766993).

ECHS1

The ECHS1 gene is associated with autosomal recessive mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (MedGen UID 833076).

EDNRB

The EDNRB gene is associated with autosomal recessive and autosomal dominant Waardenburg syndrome type 4A (WS4A) (MedGen UID: 341244). Additionally, the EDNRB gene has preliminary evidence supporting a correlation with autosomal dominant Hirschsprung disease susceptibility (MedGen UID: 374002).

EGF

The EGF gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive renal hypomagnesmia (MedGen UID: 388692) and autosomal dominant isolated hypogonadotropic hypogonadism (PMID: 30098700).

EGR2

The EGR2 gene is associated with a spectrum of hereditary neuropathies including autosomal dominant Charcot-Marie-Tooth disease type 1D (CMT1D) (MedGen UID: 334709) and autosomal recessive Charcot-Marie-Tooth disease type 4E (CMT4E) (MedGen UID: 1648303).

EHMT1

The EHMT1 gene is associated with autosomal dominant Kleefstra syndrome (MedGen UID: 208639).

EIF2AK3

The EIF2AK3 gene is associated with autosomal recessive Wolcott-Rallison syndrome (WRS) (MedGen UID: 140926).

EIF2B1

The EIF2B1 gene is associated with autosomal recessive leukoencephalopathy with vanishing white matter (VWM) (MedGen UID: 347037).

EIF2B2

The EIF2B2 gene is associated with autosomal recessive leukoencephalopathy with vanishing white matter (VWM) (MedGen UID: 347037).

EIF2B3

The EIF2B3 gene is associated with autosomal recessive leukoencephalopathy with vanishing white matter (LVWM) (MedGen UID: 347037).

EIF2B4

The EIF2B4 gene is associated with autosomal recessive leukoencephalopathy with vanishing white matter (MedGen UID: 347037).

EIF2B5

The EIF2B5 gene is associated with autosomal recessive leukoencephalopathy with vanishing white matter (MedGen UID: 347037).

ELAC2

The ELAC2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 17 (COXPD17) (MedGen UID: 815856, 1668540).

ELOVL4

The ELOVL4 gene is associated with autosomal dominant Stargardt-like macular degeneration (MedGen UID: 333146), autosomal dominant spinocerebellar ataxia 34 (also known as erythrokeratodermia with ataxia) (MedGen UID: 338703), and autosomal recessive ichthyosis, spastic quadriplegia, and intellectual disability (ISQID) (MedGen UID: 482486).

ENO3

The ENO3 gene is associated with autosomal recessive glycogen storage disease (GSD) XIII (MedGen UID: 442873).

ENPP1

The ENPP1 gene is associated with autosomal recessive hypophosphatemic rickets 2 (ARHR2) (MedGen UID: 442380), generalized arterial calcification of infancy type 1 (GACI1) (MedGen UID: 395331), and autosomal dominant Cole disease (COLED) (MedGen UID: 816111). Additionally, the ENPP1 gene has preliminary evidence supporting a correlation with autosomal recessive Cole disease (PMID: 28964717).

ENTPD1

The ENTPD1 gene is associated with autosomal recessive spastic paraplegia 64 (SPG64) (MedGen UID: 816619).

EOGT

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

EP300

The EP300 gene is associated with autosomal dominant Rubinstein-Taybi syndrome (MedGen UID: 462291).

EPG5

The EPG5 gene is associated with autosomal recessive Vici syndrome (MedGen UID: 340962).

EPHA4

The EPHA4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant atypical cerebral palsy (PMID: 30542205).

EPM2A

The EPM2A gene is associated with autosomal recessive progressive myoclonus epilepsy, Lafora type (MedGen UID: 155631).

EPRS

The EPRS gene is associated with autosomal recessive hypomyelinating leukodystrophy (MedGen UID: 1633653).

ERCC2

The ERCC2 gene is associated with autosomal recessive photosensitive trichothiodystrophy (TTD) (MedGen UID: 355730) and xeroderma pigmentosum, group D (XPD) (MedGen UID: 75656). Additionally, the ERCC2 gene has preliminary evidence supporting a correlation with a combined phenotype including both xeroderma pigmentosum and trichothiodystrophy (XP-TTD) (PMID: 11709541) as well as xeroderma pigmentosum and Cockayne syndrome (XP-CS) (PMID: 7825573).

ERCC3

The ERCC3 gene is associated with autosomal recessive xeroderma pigmentosum/Cockayne syndrome (MedGen UID: 373493).

ERCC6

The ERCC6 gene is associated with autosomal recessive Cockayne syndrome B (MedGen UID: 155487) and cerebrooculofacioskeletal syndrome (MedGen UID: 66320).

ERCC8

The ERCC8 gene is associated with autosomal recessive Cockayne syndrome type A (MedGen UID: 155488) and UV-sensitive syndrome (MedGen UID: 766212).

ETFA

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

ETFB

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

ETFDH

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

ETHE1

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

EXT1

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

EXT2

The EXT2 gene is associated with autosomal dominant hereditary multiple osteochondromas (HMO) (MedGen UID: 377018), previously called hereditary multiple exostoses. Additionally, the EXT2 gene has preliminary evidence supporting a correlation with autosomal recessive seizures, scoliosis, and macrocephaly/microcephaly syndrome (MedGen UID: 909039).

EXTL3

The EXTL3 gene is associated with autosomal recessive EXTL3 deficiency (MedGen UID: 1381460).

F
FA2H

The FA2H gene is associated with autosomal recessive fatty acid hydroxylase-associated neurodegeneration (FAHN) (MedGenUID: 777150) and hereditary spastic paraplegia 35 (SPG35) (MedGen UID: 501249).

FAH

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

FAM111A

The FAM111A gene is associated with autosomal dominant Gracile bone dysplasia (MedGen UID: 356331) and Kenny-Caffey syndrome (KCS) (MedGen UID: 1373312).

FAM126A

The FAM126A gene is associated with autosomal recessive hypomyelination and congenital cataracts (HCC) (MedGen UID: 501134).

FAM20C

The FAM20C gene is associated with autosomal recessive Raine syndrome (RNS) (MedGen UID: 342416).

FARS2

The FARS2 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (PMID: 22833457, 25851414, 27652284) and hereditary spastic paraplegia 77 (SPG77) (MedGen UID: 934717).

FARSB

The FARSB gene is associated with autosomal recessive Rajab interstitial lung disease with brain calcifications (RILDBC) (MedGen UID: 462260).

FASTKD2

The FASTKD2 gene is associated with autosomal recessive mitochondrial complex IV deficiency (MedGen UID: 75662).

FBN3

The FBN3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome (PMID: 29156830) and arthrogryposis (PMID: 26752647).

FBP1

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

FBXL4

The FBXL4 gene is associated with autosomal recessive mitochondrial DNA depletion syndrome 13 (MTDPS13), encephalomyopathic type (MedGen UID: 815922).

FBXO7

The FBXO7 gene is associated with autosomal recessive Parkinson disease 15 (PARK15) (MedGen UID: 337969).

FDX2

The FDX2 gene (formerly known as FDX1L) is associated with autosomal recessive mitochondrial myopathy (MedGen UID: 56484).

FECH

The FECH gene is associated with autosomal recessive erythropoietic protoporphyria (MedGen UID: 1643471).

FGD4

The FGD4 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4H (CMT4H) (MedGen UID: 324487).

FGF23

The FGF23 gene is associated with autosomal dominant hypophosphatemic rickets (ADHR) (MedGen UID: 83346), and autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC) (MedGen UID: 360297).

FGFR1

The FGFR1 gene is associated with autosomal dominant Kallmann syndrome 2 (MedGen UID: 289648), craniosynostosis (MedGen UID: 350148), Hartsfield syndrome (MedGen UID: 335111) and osteoglophonic dysplasia (MedGen UID: 96592). Additionally, the FGFR1 gene has preliminary evidence supporting a correlation with autosomal recessive Kallmann syndrome (PMID: 25394172) and Hartsfield syndrome (PMID: 23812909).

FGFRL1

The FGFRL1 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive arthrogryposis (PMID: 31230720).

FH

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, FH has preliminary evidence supporting a correlation with autosomal dominant hereditary paraganglioma-pheochromocytoma (PMID: 24334767, 25004247). The data, however, are preliminary and insufficient to make a determination regarding this relationship.

FIG4

The FIG4 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4J (CMT4J) (MedGen UID: 370808) and Yunis-Varon syndrome (MedGen UID: 341818). In addition, the FIG4 gene has preliminary evidence supporting a correlation with autosomal dominant amyotrophic lateral sclerosis 11 (ALS11) (MedGen UID: 393399).

FKRP

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).

FKTN

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).

FLAD1

The FLAD1 gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase (MAD) deficiency due to flavin adenine dinucleotide synthetase deficiency (MedGen UID: 934789).

FOLR1

The FOLR1 gene is associated with autosomal recessive cerebral folate deficiency (MedGen UID: 442763).

FOXC1

The FOXC1 gene is associated with autosomal dominant anterior segment dysgenesis (ASD) (MedGen UID: 355748), Axenfeld-Rieger syndrome (ARS) (Medgen UID: 394534), primary congenital glaucoma (PCG) (PMID: 30653210), and congenital anomalies of the kidney and urinary tract (CAKUT) (PMID: 32475988).

FOXG1

The FOXG1 gene is associated with autosomal dominant congenital / atypical Rett syndrome (MedGen UID: 462055).

FOXP3

The FOXP3 gene is associated with X-linked recessive immunodysregulation, polyendocrinopathy, and enteropathy (IPEX syndrome) (MedGen UID: 83339).

FOXRED1

The FOXRED1 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 19 (MC1DN19) (MedGen UID: 374101).

FRRS1L

The FRRS1L gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (EIEE) (MedGen UID: 934737).

FTCD

The FTCD gene is associated with autosomal recessive glutamate formiminotransferase deficiency (MedGen UID 82823), a biochemical phenotype which may or may not result in a clinical condition.

FTL

The FTL gene is associated with autosomal dominant neurodegeneration with neuroferritinopathy (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 (MedGen UID: 816420).

FUCA1

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

FUK

The FCSK gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with a congenital disorder of glycosylation with defective fucosylation (MedGen UID: 1647704).

FUT8

The FUT8 gene is associated with autosomal recessive congenital disorder of glycosylation due to defective fucosylation (FUT8-CDG) (MedGen UID: 941256).

FXYD2

The FXYD2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypomagnesemia (MedGen UID: 320542).

G
G6PC

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

G6PC3

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

G6PD

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

GAA

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

GABBR2

The GABBR2 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1633749) and Rett syndrome (PMID: 28856709).

GABRA1

The GABRA1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 483052), childhood absence epilepsy (MedGen UID: 369671), and juvenile myoclonic epilepsy (MedGen UID: 442345).

GABRA2

The GABRA2 gene is associated with autosomal dominant developmental and epileptic encephalopathy (MedGen UID: 1684724).

GABRB1

The GABRB1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 934658).

GABRB3

The GABRB3 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 934679), generalized epilepsy with febrile seizures plus, and familial febrile seizures (PMID: 28053010) Additionally, the GABRB3 gene has preliminary evidence supporting a correlation with autosomal dominant childhood absence epilepsy (CAE), a type of autosomal dominant idiopathic generalized epilepsy (MedGen UID: 393654).

GABRG2

The GABRG2 gene is associated with autosomal dominant childhood absence epilepsy (CAE) (MedGen UID: 334707), generalized epilepsy with febrile seizures plus, and familial febrile seizures (MedGen UID: 370755) and developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1680535).

GAD1

The GAD1 gene is associated with autosomal recessive developmental and epileptic encephalopathy (MedGen UID: 978184). Additionally, the GAD1 gene has preliminary evidence supporting a correlation with autosomal recessive spastic quadriplegic cerebral palsy 1 (CPSQ1) (MedGen UID: 442852).

GALC

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

GALE

The GALE gene is associated with autosomal recessive epimerase deficiency galactosemia (MedGen UID: 199598). Additionally, the GALE gene has preliminary evidence supporting a correlation with autosomal recessive thrombocytopenia (PMID: 30247636).

GALK1

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

GALM

The GALM gene is associated with autosomal recessive mutarotase deficiency galactosemia (PMID: 30451973, 30910422).

GALNS

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

GALNT3

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

GALT

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

GAMT

The GAMT gene is associated with autosomal recessive guanidinoacetate methyltransferase (GAMT) deficiency (MedGen UID: 154356).

GAN

The GAN gene is associated with autosomal recessive giant axonal neuropathy 1 (GAN1) (MedGen UID: 376775).

GANAB

The GANAB gene is associated with autosomal dominant polycystic kidney disease (MedGen UID: 854672). Additionally, the GANAB gene has preliminary evidence supporting a correlation with congenital heart defect and neurodevelopmental disorder (PMID: 26785492).

GARS

The GARS gene is associated with a spectrum of autosomal dominant axonal neuropathies (MedGen UID: 468432) including Charcot-Marie-Tooth disease type 2D (CMT2D) (MedGen UID: 316946), also referred to as distal hereditary motor neuropathy 5 (HMN5) (MedGen UID: 318838) or infantile spinal muscular atrophy, James type (SMAJI) (MedGen UID: 978273). Additionally, the GARS gene is associated with autosomal recessive multisystem disorders (PMID: 28675565, 24669931).

GATA1

The GATA1 gene is associated with X-linked GATA1-related cytopenia (MedGen UID: 335283) and X-linked Diamond-Blackfan anemia (MedGen UID: 266045).

GATA4

The GATA4 gene is associated with a spectrum of congenital heart defects including autosomal dominant tetralogy of Fallot (TOF) (MedGen UID: 21498), ventricular septal defects (VSD) (MedGen UID: 482407), atrial septal defects (ASD) (MedGen UID: 334249), and atrioventricular septal defects (AVSD) (MedGen UID: 482411). The GATA4 gene is also associated with autosomal dominant atrial fibrillation (PMID: 21708142). Additionally, the GATA4 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 24041700), congenital diaphragmatic hernia (PMID: 23138528), and neonatal diabetes (PMID: 24696446).

GATA6

The GATA6 gene is associated with autosomal dominant pancreatic agenesis, with or without other clinical features (PMID: 22158542, 24310933). Additionally, there is preliminary evidence supporting a correlation with isolated congenital heart defects (PMID: 28991257), atrial fibrillation (PMID: 22257684) and diabetes mellitus (PMID: 23223019).

GATM

The GATM gene is associated with autosomal dominant renal Fanconi syndrome with kidney failure (PMID: 29654216) and autosomal recessive cerebral creatine deficiency syndrome due to arginine:glycine amidinotransferase (AGAT) deficiency (MedGen UID: 436367).

GBE1

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).

GCDH

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

GCGR

The GCGR gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with presumed autosomal recessive glucagon receptor defect (MedGen UID: 1677024).

GCH1

The GCH1 gene is associated with autosomal dominant dopa-responsive dystonia (DRD) (MedGen UID: 342121), and autosomal recessive BH4-deficient hyperphenylalaninemia, also known as GTP cyclohydrolase I deficiency (MedGen UID: 75683).

GCK

The GCK gene is associated with autosomal dominant hyperinsulinemic hypoglycemia (MedGen UID: 355435), maturity-onset diabetes of the young (MODY) (MedGen UID: 330729) and autosomal recessive premature neonatal diabetes mellitus (PNDM) (MedGen UID: 371484).

GCLC

The GCLC gene is associated with autosomal recessive hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (MedGen UID: 347272).

GCSH

The GCSH gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive glycine encephalopathy (MedGen UID: 155625).

GDAP1

The GDAP1 gene is associated with autosomal dominant and recessive forms of Charcot-Marie-Tooth (CMT) disease (MedGen UID: 347821, 375064, 334012, 375113).

GFAP

The GFAP gene is associated with autosomal dominant Alexander disease (MedGen UID: 78724). Additionally, the GFAP gene has preliminary evidence supporting a correlation with autosomal recessive Alexander disease (PMID: 32374915).

GFER

The GFER gene is associated with autosomal recessive mitochondrial myopathy (MedGen UID: 416525).

GFM1

The GFM1 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency (COXPD) (MedGen UID: 322999).

GFM2

The GFM2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Leigh syndrome (MedGen UID: 941331).

GFPT1

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

GH1

The GH1 gene is associated with autosomal recessive and autosomal dominant forms of growth hormone deficiency (MedGen UID: 90986 and 124405)

GHR

The GHR gene is associated with autosomal recessive Laron syndrome (MedGen UID: 78776) and autosomal dominant growth hormone insensitivity syndrome (GHIS) (MedGen UID: 346958).

GIF

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

GJA1

The GJA1 gene is associated with autosomal dominant and recessive oculodentodigital dysplasia (ODDD) (MedGen UID: 167236) and autosomal dominant erythrokeratodermia variabilis et progressiva (EKVP) (MedGen UID: 1380593). Additionally, the GJA1 gene has preliminary evidence supporting a correlation with autosomal recessive craniometaphyseal dysplasia (MedGen UID: 419753), autosomal dominant syndactyly type 3 (MedGen UID: 396117), and autosomal dominant structural heart defects (PMID: 7715640).

GJB1

The GJB1 gene (also known as Connexin 32 or Cx32) is associated with X-linked Charcot-Marie-Tooth disease type 1X (CMT1X) (MedGen UID: 98290).

GJC2

The GJC2 gene is associated with autosomal dominant hereditary lymphatic malformation type 3 (LMPHM3) (MedGen UID: 1652857). The GJC2 gene is also associated with a spectrum of autosomal recessive neurological conditions including hereditary spastic paraplegia 44 (SPG44) (MedGen UID: 413042) and hypomyelinating leukodystrophy 2 (HLD2), which is also referred to as Pelizaeus-Merzbacher-like disease (MedGen UID: 325157).

GLA

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

GLB1

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).

GLDC

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

GLIS3

The GLIS3 gene is associated with autosomal recessive neonatal diabetes mellitus with congenital hypothyroidism (NDH) (MedGen UID: 347541). Additionally, the GLIS3 gene has preliminary evidence supporting a correlation with Tourette syndrome (PMID: 28472652).

GLRA1

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

GLRB

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

GLRX5

The GLRX5 gene is associated with autosomal recessive congenital sideroblastic anemia (MedGen UID: 895975). Additionally, the GLRX5 gene has preliminary evidence supporting a correlation with childhood-onset spasticity with hyperglycinemia (MedGen UID: 905660)

GLUD1

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

GLUL

The GLUL gene is associated with autosomal recessive glutamine synthetase deficiency (PMID: 16267323, 21353613).

GLYCTK

The GLYCTK gene is associated with autosomal recessive D-glyceric aciduria (MedGen UID: 226941).

GM2A

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

GMPPA

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

GMPPB

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), and autosomal recessive congenital myasthenic syndrome (CMS) (PMID: 26133662).

GNAO1

The GNAO1 gene is associated with an autosomal dominant spectrum of conditions including developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 815936) and neurodevelopmental disorder with involuntary movements (NEDIM) (MedGen UID: 1374697).

GNAS

The GNAS gene is associated with autosomal dominant progressive osseous heteroplasia (MedGen UID: 137714), pseudohypoparathyroidism Ia (MedGen UID: 46178), and pseudopseudohypoparathyroidism (MedGen UID: 10995). Somatic mutations in the GNAS gene are associated with McCune-Albright syndrome (MedGen UID: 69164).

GNB1

The GNB1 gene is associated with autosomal dominant intellectual disability 42 (MedGen UID: 934741).

GNE

The GNE gene is associated with autosomal dominant sialuria (MedGen UID: 137980) and autosomal recessive GNE-related myopathy (MedGen UID: 381298).

GNMT

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

GNPAT

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

GNPTAB

The GNPTAB gene is associated with autosomal recessive mucolipidosis type II alpha/beta (ML II), previously known as I-cell disease or Pacman dysplasia (MedGen UID: 435914), and mucolipidosis type III alpha/beta (ML III), previously known as pseudo-Hurler polydystrophy (MedGen UID: 10988).

GNPTG

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

GNS

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

GORAB

The GORAB gene is associated with autosomal recessive geroderma osteodysplastica (MedGen UID: 98149).

GOSR2

The GOSR2 gene is associated with autosomal recessive progressive myoclonic epilepsy (MedGen UID: 481257). Additionally, the GOSR2 gene has preliminary evidence supporting a correlation with autosomal recessive muscular dystrophy and developmental delay (PMID: 29855340, 25326637).

GOT2

The GOT2 gene is associated with autosomal recessive early infantile epileptic encephalopathy (EIEE) (MedGen UID: 483052).

GPAA1

The GPAA1 gene is associated with an autosomal recessive congenital disorder of glycosylation (GPAA1-CDG) (MedGen UID: 1615160).

GPC3

The GPC3 gene is associated with X-linked recessive Simpson-Golabi-Behmel syndrome (MedGen UID: 162917).

GPHN

The GPHN gene is associated with autosomal recessive molybdenum cofactor deficiency (MedGen UID: 340761) and autosomal dominant GPHN-related spectrum disorder including seizures, autism and intellectual disability (PMID: 23393157). Additionally, the GPHN gene has preliminary evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (EIEE) (PMID: 26613940).

GPR101

The GPR101 gene is associated with X-linked acrogigantism, which usually results from a common Xq26.3 microduplication that includes GPR101 (MedGen UID: 856021, PMID: 27245663).

GPR88

The GPR88 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive childhood onset chorea with psychomotor impairment (MedGen UID: 934754).

GRHPR

The GRHPR gene is associated with autosomal recessive primary hyperoxaluria, type 2 (PH2) (MedGen UID: 120616).

GRIA3

The GRIA3 gene is associated with X-linked intellectual disability (MedGen UID: 1675094). Additionally, the GRIA3 gene has preliminary evidence supporting a correlation with X-linked developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (PMID: 26648591).

GRIN1

The GRIN1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (PMID: 25864721, 23934111) and autosomal dominant intellectual disability (MedGen UID: 481912).

GRIN2B

The GRIN2B gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 830511) and autosomal dominant intellectual disability (MedGen UID: 462761).

GRIN2D

The GRIN2D gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 934654).

GRM7

The GRM7 gene is associated with autosomal recessive leukodystrophy (PMID: 28097321, 27435318). Additionally, the GRM7 gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (PMID: 30315573).

GRN

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

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

GTF2H5

The GTF2H5 gene is associated with autosomal recessive trichothiodystrophy (TTD) (MedGen UID: 865608).

GTPBP2

The GTPBP2 gene is associated with autosomal recessive Jaberi-Elahi syndrome (MedGen UID: 1647359).

GTPBP3

The GTPBP3 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 23 (COXPD23) (MedGen UID: 863884).

GUSB

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

GYG1

The GYG1 gene is associated with autosomal recessive polyglucosan body myopathy 2 (PGBM2) (MedGen UID: 863889).

GYG2

The GYG2 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with X-linked Leigh syndrome (PMID: 24100632).

GYS1

The GYS1 gene is associated with autosomal recessive glycogen synthase deficiency, muscle type (GSD 0b, muscle form) (MedGen UID: 409741).

GYS2

The GYS2 gene is associated with autosomal recessive liver glycogen storage disease 0A (GSD 0A, liver isoform) (MedGen UID: 343430).

H
HADH

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

HADHA

The HADHA gene is associated with autosomal recessive long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency (MedGen UID: 778253) and autosomal recessive mitochondrial trifunctional protein (MTP) deficiency (MedGen UID: 370665).

HADHB

The HADHB gene is associated with autosomal recessive mitochondrial trifunctional protein deficiency (MedGen UID: 370665).

HARS

The HARS gene is associated with autosomal dominant Charcot-Marie-Tooth disease, type 2W (CMT2W) (MedGen UID: 898344). Additionally, the HARS gene has preliminary evidence supporting a correlation with Usher syndrome (PMID: 27353947, 22930593).

HARS2

The HARS2 gene is associated with autosomal recessive Perrault syndrome (MedGen UID: 767019).

HCCS

The HCCS gene is associated with X-linked dominant microphthalmia with linear skin defects (MLS) syndrome (MedGen ID: 163210).

HCFC1

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

HEPACAM

The HEPACAM gene is associated with autosomal recessive megalencephalic leukoencephalopathy with subcortical cysts 2A (MLC2A) (MedGen UID: 462705), and autosomal dominant megalencephalic leukoencephalopathy with subcortical cysts 2B (MLC2B) (MedGen UID: 462706).

HESX1

The HESX1 gene is associated with autosomal recessive and autosomal dominant septo-optic dysplasia (SOD) (MedGen UID: 90926). Additionally, the HESX1 gene has preliminary evidence supporting a correlation with autosomal dominant idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS) (PMID: 23465708).

HEXA

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

HEXB

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

HGD

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

HGSNAT

The HGSNAT gene is associated with autosomal recessive mucopolysaccharidosis type IIIC (MPS IIIC or Sanfilippo C) (MedGen