Severe microcephaly
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
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
emma baple (Genomics England Curator)
Discussed with Andrew JacksonCreated: 4 Mar 2017, 6:51 p.m.
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, microcephaly, seizures, very variable phenotype
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
-
- NHS GMS
- Expert Review Green
- Expert Review
- Phenotypes
-
- Microcephaly, seizures, very variable phenotype
- OMIM
- 300502
- Clinvar variants
- Variants in PDHA1
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- DDG2P
- Pyruvate dehydrogenase (PDH) deficiency
- Likely inborn error of metabolism
- Hereditary neuropathy or pain disorder
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
- Fetal anomalies
- Severe microcephaly
- Undiagnosed metabolic disorders
History Filter Activity
29 Jul 2019, Gel status: 3
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PDHA1.
4 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
4 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
4 Mar 2017, Gel status: 0
Created
emma baple (Genomics England Curator)PDHA1 was created by ebapleC
4 Mar 2017, Gel status: 0
Added New Source
emma baple (Genomics England Curator)PDHA1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert Review