Metabolic Disorders and Newborn Screening

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

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

Clinical Area: Primary Hyperoxalurias

3 genes

Invitae Primary Hyperoxaluria Panel

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Genetic testing for 3 genes associated with primary hyperoxaluria.

Clinical Area: Metabolic Newborn Screening and Immunology

4 genes

Invitae Acute Hepatic Porphyrias Panel

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

10 genes

Invitae Comprehensive Porphyrias Panel

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

up to 245 genes

Invitae Metabolic Disorders Newborn Screening Confirmation Panel

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

6 genes

Invitae Lysosomal Storage Disorders Newborn Screening Panel

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

up to 15 genes

Invitae X-Linked Adrenoleukodystrophy Newborn Screening Confirmation Test

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

1 gene

Invitae Low C0 Test

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

1 gene

Invitae Elevated C0/(C16+C18) Test

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

up to 16 genes

Invitae Elevated C3 Panel

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Genetic testing for 15 genes that are associated with elevated C3 on newborn screening (NBS).

1 gene

Invitae Elevated C3-DC Test

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

up to 4 genes

Invitae Elevated C4 Panel

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

2 genes

Invitae Elevated C4-DC Panel

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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

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

7 genes

Invitae Elevated C4 and C5 Panel

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

2 genes

Invitae Elevated C5 Panel

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

1 gene

Invitae Elevated C5-DC Test

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

13 genes

Invitae Elevated C5-OH Panel

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

1 gene

Invitae Elevated C6, C8 and C10 Test

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

1 gene

Invitae Elevated C14 and C14:1 Test

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

2 genes

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

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

2 genes

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

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

1 gene

Invitae Elevated Arginine Test

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

up to 5 genes

Invitae Elevated Citrulline Panel

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

up to 4 genes

Invitae Low Citrulline Panel

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

up to 62 genes

Invitae Elevated Glycine Panel

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

5 genes

Invitae Elevated Leucine Panel

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

up to 6 genes

Invitae Elevated Methionine Panel

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

6 genes

Invitae Elevated Phenylalanine Panel

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

2 genes

Invitae Elevated Proline Panel

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

1 gene

Invitae Elevated Succinylacetone Test

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

3 genes

Invitae Elevated Tyrosine Panel

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

1 gene

Invitae Alkaptonuria Test

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

11 genes

Invitae Combined Methylmalonic Acidemia and Homocystinuria Panel

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

3 genes

Invitae Cystinuria Panel

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

3 genes

Invitae Disorders of Serine Biosynthesis Panel

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

6 genes

Invitae Glycine Encephalopathy Panel

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

up to 19 genes

Invitae Homocystinuria Panel

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

6 genes

Invitae Hyperphenylalaninemia Panel

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

2 genes

Invitae Hyperprolinemia Panel

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

up to 5 genes

Invitae Maple Syrup Urine Disease Panel

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

3 genes

Invitae Tyrosinemia Panel

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

3 genes

Invitae Galactosemia Panel

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

1 gene

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

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

1 gene

Invitae Glucose Transporter Type 1 (GLUT1) Deficiency Syndrome Test

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

up to 46 genes

Invitae Comprehensive Glycogen Storage Disease Panel

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

11 genes

Invitae Liver Glycogen Storage Disease Panel

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

up to 37 genes

Invitae Muscle Glycogen Storage Disease Panel

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

1 gene

Invitae Hereditary Fructose Intolerance Test

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

2 genes

Invitae Rare Carbohydrate Disorders Panel

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

up to 3 genes

Invitae Cerebrotendinous Xanthomatosis Test

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

up to 103 genes

Invitae Congenital Disorders of Glycosylation Panel

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

3 genes

Invitae Cerebral Creatine Deficiency Panel

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

1 gene

Invitae Cystic Fibrosis Newborn Screening Confirmation Test

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

up to 35 genes

Invitae Fatty Acid Oxidation Defects Panel

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Genetic testing for up to 35 genes that are associated with fatty acid oxidation defects (FAODs)—disorders in the fatty acid oxidation pathway.

2 genes

Invitae Ketogenesis Disorders Panel

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

2 genes

Invitae Ketolysis Disorders Panel

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

1 gene

Invitae Medium Chain Acyl-CoA Dehydrogenase Deficiency Test

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

up to 6 genes

Invitae Multiple Acyl-CoA Dehydrogenase (MAD) Deficiency Panel

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

1 gene

Invitae Very Long Chain Acyl-CoA Dehydrogenase Deficiency Test

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

up to 53 genes

Invitae Comprehensive Lysosomal Storage Disorders Panel

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

1 gene

Invitae Cystinosis Test

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

1 gene

Invitae Fabry Disease Test

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

1 gene

Invitae Farber Lipogranulomatosis Test

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

3 genes

Invitae GM2 Gangliosidosis Panel

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

up to 2 genes

Invitae Krabbe Disease Test

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

1 gene

Invitae Lysosomal Acid Lipase Deficiency Test

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

up to 7 genes

Invitae Metachromatic Leukodystrophy Panel

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

4 genes

Invitae Mucolipidosis Panel

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Genetic testing for 4 genes associated with the mucolipidoses.

up to 23 genes

Invitae Comprehensive Mucopolysaccharidoses (MPS) Panel

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Genetic testing for genes associated with mucopolysaccharidosis (MPS).

up to 6 genes

Invitae Mucopolysaccharidosis Type I (MPS I) Test

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

up to 5 genes

Invitae Mucopolysaccharidosis Type II (MPS II) Test

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

4 genes

Invitae Mucopolysaccharidosis Type III (MPS III) Panel

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

up to 3 genes

Invitae Mucopolysaccharidosis Type IV (MPS IV) Panel

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

up to 16 genes

Invitae Multiple Sulfatase Deficiency Test

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

up to 13 genes

Invitae Comprehensive Neuronal Ceroid Lipofuscinoses Panel

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

up to 2 genes

Invitae Niemann-Pick Disease Types A and B Panel

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

up to 4 genes

Invitae Niemann-Pick Disease Type C Panel

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

up to 23 genes

Invitae Oligosaccharidoses Panel

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Genetic testing for up to 23 genes associated with oligosaccharidosis.

up to 3 genes

Invitae Pompe Disease Test

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

1 gene

Invitae Prosaposin Deficiency Test

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

up to 2 genes

Invitae Sandhoff Disease Test

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

up to 2 genes

Invitae Tay-Sachs Disease Test

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

20 genes

Invitae Neurodegeneration with Brain Iron Accumulation Panel

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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.

1 gene

Invitae ATP7A-Related Disorders

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

5 genes

Invitae Copper Metabolism Disorders Panel

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

1 gene

Invitae Wilson Disease Test

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

27 genes

Invitae Neurotransmitter Disorders Panel

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

6 genes

Invitae Hereditary Hyperekplexia Panel

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

up to 56 genes

Invitae Organic Acidemias Panel

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

4 genes

Invitae 2-Hydroxyglutaric Aciduria Panel

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

2 genes

Invitae 3-Methylcrotonyl-CoA Carboxylase Panel

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

8 genes

Invitae 3-Methylglutaconic Aciduria Panel

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Genetic testing for 8 genes that are associated with 3-methylglutaconic aciduria.

1 gene

Invitae Barth Syndrome Test

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

1 gene

Invitae Biotinidase Deficiency Test

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

1 gene

Invitae Canavan Disease Test

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

1 gene

Invitae Glutaric Acidemia Type I Test

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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.

11 genes

Invitae Combined Methylmalonic Acidemia and Homocystinuria Panel

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

up to 18 genes

Invitae Methylmalonic Acidemia Panel

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

up to 6 genes

Invitae Multiple Acyl-CoA Dehydrogenase (MAD) Deficiency Panel

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

2 genes

Invitae Multiple Carboxylase Deficiency Panel

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

up to 9 genes

Invitae Propionic Acidemia Panel

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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.

2 genes

Invitae Adult Refsum Disease Panel

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

3 genes

Invitae Rhizomelic Chondrodysplasia Punctata Spectrum Panel

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

up to 15 genes

Invitae X-linked Adrenoleukodystrophy (X-ALD) Test

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

15 genes

Invitae Zellweger Spectrum Disorder Panel

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

up to 10 genes

Invitae Purine Metabolism Disorders Panel

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

1 gene

Invitae Lesch-Nyhan Syndrome Test

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

up to 4 genes

Invitae 2-Ketoglutarate Dehydrogenase Deficiency Panel

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

1 gene

Invitae Citrate Transporter Deficiency Test

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

1 gene

Invitae Dihydrolipoamide Dehydrogenase Deficiency Test

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

1 gene

Invitae Fumarase Deficiency Test

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

1 gene

Invitae Pyruvate Carboxylase Deficiency Test

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

8 genes

Invitae Pyruvate Dehydrogenase Deficiency Panel

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

446 genes

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

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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. This panel includes genes associated with adult-onset neurodegenerative conditions, as well as, some genes that confer risk for both an autosomal recessive leukodystrophy and an autosomal dominant increased risk for cancer. (i.e. SDHA, SDHB, PTEN, SDHAF1).

265 genes

Invitae Cerebral Palsy Spectrum Disorders Panel

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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).

58 genes

Invitae Hyperammonemia Panel

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Genetic testing for 58 genes that are associated with hyperammonemia.

up to 91 genes

Invitae Mendelian Disorders with Psychiatric Symptoms Panel

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Genetic testing for up to 96 genes associated with late-onset or atypical presentations of inborn errors of metabolism that can present with psychiatric symptoms.

up to 52 genes

Invitae Metabolic Non-Immune Fetal Hydrops Panel

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

1 gene

Invitae Alpha-1 Antitrypsin Deficiency Test

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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

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

up to 144 genes

Invitae Treatable Neurometabolic Disorders Panel

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

1 gene

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

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

up to 15 genes

Invitae Urea Cycle Disorders Panel

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

1 gene

Invitae Arginase Deficiency Test

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

up to 4 genes

Invitae Ornithine Transcarbamylase (OTC) Deficiency Test

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

Clinical Area: Hypophosphatemia

1 gene

Invitae X-Linked Hypophosphatemia Test

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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

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

Clinical Area: EXOME

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Invitae Boosted Exome, Proband-Only

Only the proband (affected individual) is tested.

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Invitae Boosted Exome, Duo

Proband and one biological parent (affected or unaffected) are tested.

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Invitae Boosted Exome, Trio

Proband and both biological parents (affected or unaffected) are tested.

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

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

Gene
A
AARS

The AARS gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) (MedGen UID: 413754) and autosomal recessive early infantile epileptic encephalopathy 29 (EIEE29) (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).

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).

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).

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).

ACAD8

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

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).

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).

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). Up to 6% of affected individuals have a pathogenic variant in the promoter region, which is not currently included in this assay (PMID: 25112391, 12016589).

AGA

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

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).

AIFM1

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

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).

AKT3

The AKT3 gene is associated with autosomal dominant megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MedGen UID: 863175).

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: 851795, 82794) and spastic paraplegia (SPG9A and SPG9B, respectively) (MedGen UID: 322007, 851785). The ALDH18A1 gene is also associated with autosomal recessive delta-pyrroline-5-carboxylate synthetase (P5CS) deficiency (PMID: 11092761).

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 II (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: 763818) and 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).

ALPL
ALS2

The ALS2 gene is associated with a spectrum of autosomal recessive conditions: infantile-onset ascending hereditary spastic paraplegia (IAHSP) (MedGen UID: 335467), 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).

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 / early infantile epileptic encephalopathy 8 (EIEE8) (MedGen UID: 375581).

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 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).

ATM

The ATM gene is associated with autosomal dominant predisposition to breast, pancreatic (PMID: 26483394) and prostate cancers (PMID: 16998505, 15928302, 26662178, 26483394, 27324988) and autosomal recessive ataxia-telangiectasia (A-T) (MedGen UID: 439). Additionally, there is preliminary evidence suggesting ATM is associated with autosomal dominant predisposition to other cancer types including stomach, bladder and colon; although available evidence is insufficient to make a determination regarding these relationships (PMID: 26098866, 26662178, 15928302, 29348823, 15928302).

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).

ATP6V0A2

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

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
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) with short stature and limb anomalies, also known as Ehlers-Danlos syndrome, progeroid form (MedGen UID: 358390).

B4GAT1

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

BCAP31

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

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).

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) and tooth agenesis (PMID: 31128441).

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 autosomal recessive neonatal-lethal rigidity and multifocal seizure syndrome (RFMSL) (MedGen UID: 482659).

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) (PMID: 23188110, 24080142) 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).

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).

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 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: 331389). Additionally, the CACNA1A gene is associated with autosomal dominant spinocerebellar ataxia 6 (SCA6) (MedGen UID: 148458) caused by trinucleotide repeat expansion. Trinucleotide repeat expansions are not evaluated by this assay.

CARS2

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

CBS

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

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).

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).

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).

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). The 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). 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 (FTD3) (MedGen UID: 318833). Additionally, the CHMP2B gene has preliminary evidence supporting a correlation with autosomal dominant amyotrophic lateral sclerosis 17 (ALS17) (MedGen UID: 373010).

CHRNA1

The CHRNA1 gene is associated with autosomal recessive and dominant forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 373259, 199759). Additionally, the CHRNA1 gene has preliminary evidence supporting a correlation with autosomal recessive fetal akinesia deformation sequence (FADS) (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: 816572).

CLCN5
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).

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).

CNTNAP1

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

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 hemorrhage (BSVD) (MedGen UID: 861472), porencephaly (MedGen UID: 1647320), hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) (MedGen UID: 382033), and tortuosity of retinal arteries (RATOR) (MedGen UID: 356748).

COL4A2

The COL4A2 gene is associated with autosomal dominant porencephaly (MedGen UID: 482600).

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 4 (COQ10D4) (MedGen UID: 436985).

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).

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).

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).

CSF1R

The CSF1R gene is associated with autosomal dominant hereditary diffuse leukoencephalopathy with spheroids (HDLS) (MedGen UID: 777989).

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).

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).

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).

CYP27A1

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

CYP27B1
CYP2R1
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). Additionally, the CYP7B1 has preliminary evidence supporting a correlation with autosomal recessive 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).

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
DEGS1

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

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 autosomal recessive mitochondrial DNA depletion syndrome 3 (MTDPS3) (MedGen UID: 462863) and progressive external ophthalmoplegia with mitochondrial DNA deletions (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).

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
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
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).

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 (DNM2-CNM) (MedGen UID: 322437), dominant intermediate Charcot-Marie-Tooth disease type B (CMTDIB) (MedGen UID: 338346) and Charcot-Marie-Tooth disease type 2M (CMT2M) (OMIM: 606482). Additionally, the DNM2 gene has preliminary evidence supporting a correlation with autosomal recessive lethal congenital contracture syndrome 5 (LCCS5) (MedGen UID: 815602).

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).

E
EARS2

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

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).

EGR2

The EGR2 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 1D (CMT1D) (MedGen UID: 334709) and Charcot-Marie-Tooth disease type 3 (CMT3), also known as Dejerine-Sottas syndrome (MedGen UID: 3710), and autosomal recessive Charcot-Marie-Tooth disease type 4E (CMT4E), also known as congenital hypomyelinating neuropathy (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).

ELOVL4

The ELOVL4 gene is associated with autosomal dominant Stargardt macular degeneration (STGD) (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
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).

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).

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 (MAD) deficiency (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 (MAD) deficiency (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.

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).

FAM126A

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

FAM20C
FARS2

The FARS2 gene is associated with autosomal recessive early infantile epileptic encephalopathy (EIEE) (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).

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).

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
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).

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).

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) and primary congenital glaucoma (PCG) (PMID: 30653210).

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 early infantile epileptic encephalopathy (EIEE) (MedGen UID: 881218).

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)

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).

GABRA2

The GABRA2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with ASD (PMID: 29346770) and early onset epileptic encephalopathy (EOEE) (PMID: 29422393).

GAD1

The GAD1 gene currently has no well-established disease association; however, there is 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).

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).

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).

GCH1

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

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).

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 recessive and dominant 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).

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).

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 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). The GJC2 gene is also associated with autosomal dominant hereditary primary lymphedema (MedGen UID: 1652857).

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 early infantile epileptic encephalopathy (EIEE) (MedGen UID: 815936) and neurodevelopmental disorder with involuntary movements (NEDIM) (MedGen UID: 1374697).

GNAS
GNB1

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

GNE

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

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).

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).

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 II (PH2) (MedGen UID: 120616)

GRIN1

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

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).

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) and autosomal recessive glycogen storage disease XV (GSD XV) (MedGen UID: 462104, PMID: 25272951).

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).

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 UID: 39477) and retinitis pigmentosa (RP) (MedGen UID: 907690).

HIBCH

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

HIKESHI

The HIKESHI gene is associated with autosomal recessive hypomyelinating leukodystrophy-13 (HLD13) (MedGen UID: 896545).

HK1

The HK1 gene is associated with autosomal recessive hexokinase deficiency (MedGen UID: 461693) and autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 1386200). Additionally, the HK1 gene has preliminary evidence supporting a correlation with autosomal dominant hexokinase deficiency (PMID: 27282571) and autosomal recessive Charcot-Marie-Tooth 4A (CMT4A) (PMID: 23996628).

HLCS

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

HMBS

The HMBS gene is associated with autosomal dominant acute intermittent porphyria (AIP) (MedGen UID: 56452). Biochemical testing for urinary aminolevulinic acid (ALA) and/or porphobilinogen (PBG) levels should be considered in individuals with clinical suspicion of AIP (PMID: 15767622, 26366103).

HMGCL

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

HMGCS2

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

HNF1A

The HNF1A gene is associated with autosomal dominant maturity-onset diabetes of the young 3 (MODY3) (MedGen UID: 324942).

HNF1B

The HNF1B gene is associated with autosomal dominant renal cysts and diabetes syndrome (MedGen UID: 755090).

HNF4A

The HNF4A gene is associated with autosomal dominant familial hyperinsulinism (MedGen UID: 854723) and maturity-onset diabetes of the young (MODY) (MedGen UID: 377589).

HOGA1

The HOGA1 gene is associated with autosomal recessive primary hyperoxaluria type 3 (MedGen UID: 462228).

HPD

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

HPRT1

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

HSD17B10

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

HSD17B4

The HSD17B4 gene is associated with autosomal recessive D-bifunctional protein (DBP) deficiency (MedGen UID: 137982), and autosomal recessive Perrault syndrome (MedGen UID: 1640257).

HSPD1

The HSPD1 gene is associated with autosomal dominant hereditary spastic paraplegia 13 (SPG13) (MedGen UID: 344289) and autosomal recessive hypomyelinating leukodystrophy 4 (HLD4), also known as MitCHAP60 disease (Medgen UID: 383026).

HTRA1

The HTRA1 gene is associated with autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) (MedGen UID: 325051) and autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 (CADASIL2) (MedGenUID: 895965).

HYAL1

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

I
IBA57

The IBA57 is associated with autosomal recessive multiple mitochondrial dysfunctions syndrome 3 (MMDS3) (MedGen UID: 815495). Additionally, the IBA57 gene has preliminary evidence supporting a correlation with autosomal recessive spastic paraplegia 74 (MedGen UID: 908839).

IDH2

The IDH2 gene is associated with autosomal dominant D-2-hydroxyglutaric aciduria type 2 (MedGen UID: 462259).

IDS

The IDS gene is associated with X-linked recessive mucopolysaccharidosis type II (MPS II, also known as Hunter syndrome) (MedGen UID: 7734). Additionally, the IDS gene has preliminary evidence supporting a correlation with tetralogy of Fallot (PMID: 22912587).

IDUA

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

IER3IP1

The IER3IP1 gene is associated with autosomal recessive microcephaly, epilepsy, and diabetes syndrome (MEDS) (MedGen UID: 481870).

IFIH1

The IFIH1 gene is associated with autosomal dominant Aicardi-Goutieres syndrome (AGS) (MedGen UID: 854829) and Singleton-Merton syndrome (MedGen UID: 98481).

INS

The INS gene is associated with autosomal dominant maturity-onset diabetes of the young type 10 (MODY10) (MedGen UID: 461967), permanent neonatal diabetes mellitus (PNDM) (MedGen UID: 371484) and autosomal recessive PNDM (MedGen UID: 371484). Additionally, the INS gene has preliminary evidence supporting a correlation with autosomal dominant hyperproinsulinemia (MedGen UID: 137967).

ISCA1

The ISCA1 gene is associated with autosomal recessive multiple mitochondrial dysfunctions syndrome-5 (MMDS5) (MedGen UID: 1623132).

ISCA2

The ISCA2 gene is associated with autosomal recessive multiple mitochondrial dysfunctions syndrome (MMDS) (MedGen UID: 833907).

ISPD

The ISPD gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A7 (MDDGA7) (MedGen UID: 766244) and type C7 (MDDGC7) (MedGen UID: 863532).

ITPA

The ITPA gene is associated with autosomal recessive inosine triphosphate pyrophosphohydrolase (ITPase) deficiency (MedGen UID: 452450).

ITPR1

The ITPR1 gene is associated with autosomal dominant spinocerebellar ataxia type 15 (SCA15) and spinocerebellar ataxia type 29 (SCA29) (MedGen UID: 338301, 350085). The ITPR1 gene is also associated with autosomal dominant and recessive Gillespie syndrome (GLSP) (MedGen UID: 96563).

IVD

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

J
JAM3

The JAM3 gene is associated with autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and cataracts (HDBSCC) (MedGen UID: 462350).

K
KANK1
KARS

The KARS gene is associated with autosomal recessive deafness (MedGen UID: 462701) and autosomal recessive syndromic deafness with mitochondrial features (PMID:29615062). Additionally, the KARS gene has preliminary evidence supporting a correlation with autosomal recessive Charcot-Marie-Tooth disease (CMT) (PMID: 20920668).

KCNC3

The KCNC3 gene is associated with autosomal dominant spinocerebellar ataxia 13 (SCA13) (MedGen UID: 344297).

KCNJ10

The KCNJ10 gene is associated with autosomal recessive SeSAME syndrome (MedGen UID: 411243).

KCNJ11

The KCNJ11 gene is associated with autosomal recessive familial hyperinsulinism (MedGen UID: 419505), autosomal dominant familial hyperinsulinism (PMID: 18596924, 9259578, 21185999) and autosomal dominant KCNJ11-related early onset diabetes (MedGen UID: 371484). Additionally, the KCNJ11 gene has preliminary evidence supporting a correlation with type 2 diabetes mellitus (PMID: 9867219, 11318841, 12540637, 22082043, 15784703).

KCNJ6

The KCNJ6 gene is associated with autosomal dominant Keppen-Lubinsky syndrome (MedGen UID: 481430).

KCNT1

The KCNT1 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 767220) and early infantile epileptic encephalopathy (MedGen UID: 767109).

KCTD7

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

KDM5C

The KDM5C gene is associated with X-linked intellectual disability, Claes-Jensen type (MedGen UID: 335139).

KIAA1161

The MYORG gene is associated with autosomal recessive primary basal ganglia calcification 7 (BGC7) (MedGen UID: 941234).

KIDINS220

The KIDINS220 gene is associated with autosomal dominant spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) (MedGen UID: 924883).

KIF1A

The KIF1A gene is associated with autosomal recessive hereditary sensory neuropathy type 2C (HSN2C) (MedGen UID: 481798) and spastic paraplegia 30 (SPG30) (MedGen UID: 372152). The KIF1A gene is also associated with autosomal dominant complicated spastic paraplegia and intellectual disability 9 (ID9) (MedGen UID: 481913; PMID: 25265257).

KIF5A

The KIF5A gene is associated with autosomal dominant hereditary spastic paraplegia 10 (SPG10) (MedGen UID: 349003), amyotrophic lateral sclerosis 25 (ALS25) (MedGen UID: 1633917), and intractable neonatal myoclonus (MedGen UID: 934625).

KLF11

The KLF11 gene is associated with autosomal dominant maturity onset diabetes of the young (MODY) (MedGen UID: 87433).

KMT2C

The KMT2C gene is associated with autosomal dominant Kleefstra syndrome (MedGen UID: 162390). Additionally, the KMT2C gene has preliminary evidence supporting a correlation with congenital heart disease (PMID: 29555671).

L
L1CAM

The L1CAM gene is associated with X-linked L1 Syndrome (MedGen UID: 468441), which includes a spectrum of conditions ranging from complicated hereditary spastic paraplegia 1 (SPG1) (MedGen UID: 162894), X-linked hydrocephalus syndrome (HSAS) (MedGen UID: 75552), MASA syndrome (OMIM: 303350) to X-linked complicated corpus callosum agenesis (MedGen UID: 374339). Other L1CAM-related conditions have been reported (OMIM: 308840).

L2HGDH

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

LAMA1

The LAMA1 gene is associated with autosomal recessive Poretti-Boltshauser syndrome (PTBHS) (MedGen UID: 863258). This condition is also known as cerebellar dysplasia with cysts.

LAMA2

The LAMA2 gene is associated with autosomal recessive LAMA2-related muscular dystrophy (LAMA2 MD) (MedGen UID: 468394).

LAMB1

The LAMB1 gene is associated with autosomal recessive cortical malformations (MedGen UID: 767571).

LAMP2

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

LARGE1

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

LDHA

The LDHA gene is associated with autosomal recessive lactate dehydrogenase A (LDHA) deficiency (MedGen UID: 416688).

LETM1

The LETM1 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with mitochondrial encephalomyopathy (PMID: 30773800).

LFNG

The LFNG gene is associated with autosomal recessive spondylocostal dysostosis (MedGen UID: 377871).

LIAS

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

LIPA

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

LIPT1

The LIPT1 gene is associated with autosomal recessive lipoyltransferase 1 deficiency (MedGen UID: 904073).

LIPT2

The LIPT2 gene is associated with autosomal recessive neonatal encephalopathy with lactic acidosis and brain anomalies (NELABA) (MedGen UID: 1624694).

LMBRD1

The LMBRD1 gene is associated with autosomal recessive methylmalonic aciduria with homocystinuria, due to cobalamin F deficiency (MedGen UID: 336373).

LMNB1

Duplication of the entire LMNB1 gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD) (MedGen UID: 356995).

LONP1

The LONP1 gene is associated with autosomal recessive cerebral, ocular, dental, auricular and skeletal anomalies (CODAS) syndrome (MedGen UID: 333031).

LRPPRC

The LRPPRC gene is associated with autosomal recessive mitochondrial complex IV deficiency, also referred to as French Canadian type Leigh syndrome (LSFC) (MedGen UID: 387801).

LYRM7

The LYRM7 gene is associated with autosomal recessive mitochondrial complex III deficiency, nuclear type 8 (MC3DN8) (MedGen UID: 862877).

M
MAG

The MAG gene is associated with autosomal recessive spastic paraplegia 75 (SPG75) (MedGen UID: 896387).

MAGT1

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

MAN1B1

The MAN1B1 gene is associated with the autosomal recessive MAN1B1-congenital disorder of glycosylation (MAN1B1-CDG) (MedGen UID: 830900).

MAN2B1

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

MANBA

The MANBA gene is associated with autosomal recessive beta-mannosidosis (MedGen UID: 888408).

MAOA

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

MAPT

The MAPT gene is associated with a spectrum of related autosomal dominant neurodegenerative disorders including frontotemporal dementia (FTD) (MedGen UID: 83266), Pick disease (MedGen UID: 116020), and progressive supranuclear palsy 1 (PSNP1) (MedGen UID: 1640811), collectively known as MAPT-related tauopathies (MedGen UID: 893467). Additionally, the MAPT gene has preliminary evidence supporting a correlation with susceptibility to late-onset Parkinson disease (MedGen UID: 463618) and with autosomal recessive Parkinson-dementia syndrome (MedGen UID: 342410).

MARS2

The MARS2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency 25 (MedGen UID: 896555) and spastic ataxia 3 (MedGen UID: 370715).

MAT1A

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

MCCC1

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

MCCC2

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

MCEE

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

MCOLN1

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

MECP2

The MECP2 gene is associated with X-linked Rett syndrome / atypical Rett syndrome (MedGen UID: 48441) and X-linked MECP2 duplication syndrome (MedGen: 337496), a contiguous gene duplication involving MECP2 as well as other neighboring genes within Xq28.

MEF2C

The MEF2C gene is associated with autosomal dominant syndromic intellectual disability (MedGen UID: 462050).

MFSD8

The MFSD8 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 7 (CLN7) (MedGen UID: 325457) and retinal dystrophy (MedGen UID: 863808).

MGAT2

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

MGP

The MGP gene is associated with autosomal recessive Keutel syndrome (KTLS) (MedGen UID: 383722).

MLC1

The MLC1 gene is associated with autosomal recessive megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) (MedGen UID: 347006).

MLYCD

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

MMAA

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

MMAB

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

MMACHC

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

MMADHC

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

MNX1
MOCOS

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

MOCS1

The MOCS1 gene is associated with autosomal recessive molybdenum cofactor deficiency (MedGen UID: 381530).

MOCS2

The MOCS2 gene is associated with autosomal recessive molybdenum cofactor deficiency (MedGen UID: 340760); The MOCS2 gene is associated with autosomal recessive molybdenum cofactor deficiency (MedGen UID: 340760).

MOCS3

The MOCS3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with molybdenum cofactor deficiency (PMID: 30900395, 28544736).

MOGS

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

MPC1

The MPC1 gene is associated with autosomal recessive mitochondrial pyruvate carrier deficiency (MPYCD) (MedGen UID: 766521).

MPDU1

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

MPI

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

MPLKIP

The MPLKIP gene is associated with autosomal recessive non-photosensitive trichothiodystrophy (MedGen UID: 368381).

MPV17
MPZ

The MPZ gene is associated with a spectrum of autosomal dominant peripheral neuropathies including Charcot-Marie-Tooth disease types 1B (CMT1B) (MedGen UID: 124377), 2I (CMT2I) (MedGen UID: 854756), 2J (CMT2J) (MedGen UID: 375107), and dominant intermediate Charcot-Marie-Tooth disease (DI-CMTD) (MedGen UID: 334318).

MRPL44

The MRPL44 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 16 (COXPD16) (MedGen UID: 815669).

MRPS16

The MRPS16 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency 2 (COXPD2) (MedGen UID: 400626).

MRPS22

The MRPS22 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 5 (COXPD5) (MedGen UID: 435972).

MTFMT

The MTFMT gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 15 (COSPD15) (MedGen UID: 767096).

MTHFR

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

MTOR

The MTOR gene is associated with autosomal dominant Smith-Kingsmore syndrome (MedGen UID: 899689).

MTR

The MTR gene is associated with autosomal recessive cobalamin G (cblG) deficiency (MedGen UID: 344426).

MTRR

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

MTTP

The MTTP gene is associated with autosomal recessive abetalipoproteinemia (MedGen UID: 1253).

MUT

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

MVK

The MVK gene is associated with autosomal recessive mevalonate kinase deficiency which encompasses hyper-IgD syndrome (MedGen UID: 140768) and autosomal recessive mevalonic aciduria (MedGen UID: 368373). In addition, the MVK gene is associated with autosomal dominant porokeratosis (MedGen UID: 401352).

N
NAA10

The NAA10 gene is associated with X-linked Ogden syndrome (MedGen UID: 477078). Additionally, the NAA10 gene has preliminary evidence supporting a correlation with X-linked Lenz microphthalmia syndrome (LMS) (MedGen UID: 162898; PMID: 24431331).

NADK2

The NADK2 gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive 2,4-dienoyl-CoA reductase deficiency (DECRD) (PMID: 29388319, 2332510).

NAGA

The NAGA gene is associated with autosomal recessive alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency, also known as Schindler disease (MedGen UID: 373113, 324539, 324546).

NAGLU

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

NAGS

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

NAXD

The NAXD gene is associated with autosomal recessive progressive encephalopathy with brain edema and leukoencephalopathy-2 (PEBEL2) (MedGen UID: 941239).

NAXE

The NAXE gene is associated with autosomal recessive progressive, early-onset encephalopathy with brain edema and/or leukoencephalopathy 1 (PEBEL1) (MedGen UID: 934642).

NBAS

The NBAS gene is associated with autosomal recessive infantile liver failure (MedGen UID: 815981) and autosomal recessive short stature with optic nerve atrophy and Pelger-Huët anomaly (SOPH) syndrome (MedGen UID: 762020).

NDRG1

The NDRG1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4D (CMT4D) (MedGen UID: 371304).

NDUFA1

The NDUFA1 gene is associ