This Panel is marked as Deleted
Mitochondrial disorders Victorian Clinical Genetics Services
Gene: PDHA1
PDHA1 (pyruvate dehydrogenase E1 alpha 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000131828
EnsemblGeneIds (GRCh37): ENSG00000131828
OMIM: 300502, Gene2Phenotype
PDHA1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000131828
EnsemblGeneIds (GRCh37): ENSG00000131828
OMIM: 300502, Gene2Phenotype
PDHA1 is in 15 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 300502
- Clinvar variants
- Variants in PDHA1
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- Undiagnosed metabolic disorders
- Intellectual disability
- Severe microcephaly
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Pyruvate dehydrogenase (PDH) deficiency
- DDG2P
- Possible mitochondrial disorder - nuclear genes
- Likely inborn error of metabolism
- Hereditary neuropathy
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)PDHA1 was added to Mitochondrial disorders Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)PDHA1 was created by Sarah Leigh