Genetic Epilepsy
Gene: PDHA1

PDHA1 (pyruvate dehydrogenase E1 alpha 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000131828
EnsemblGeneIds (GRCh37): ENSG00000131828
OMIM: 300502, Gene2Phenotype
PDHA1 is in 18 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype.
Created: 16 Apr 2024, 9:40 a.m. | Last Modified: 16 Apr 2024, 9:40 a.m.

Panel Version: 0.2584

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170

Created: 16 Apr 2024, 9:40 a.m.
Last Modified: 16 Apr 2024, 9:40 a.m.
Panel version: 0.2584

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established gene disease association
Created: 20 Apr 2022, 6:04 a.m. | Last Modified: 20 Apr 2022, 6:04 a.m.

Panel Version: 0.13112

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170

Publications

8504309

Created: 20 Apr 2022, 6:04 a.m.
Last Modified: 20 Apr 2022, 6:04 a.m.
Panel version: Imported from Mendeliome panel version 0.13112

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship

Phenotypes

Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170

OMIM

300502

Clinvar variants

Variants in PDHA1

Penetrance

None

Publications

8504309

Panels with this gene