Severe microcephaly

Gene: PDHA1

Green List (high evidence)

PDHA1 (pyruvate dehydrogenase E1 alpha 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000131828
EnsemblGeneIds (GRCh37): ENSG00000131828
OMIM: 300502, Gene2Phenotype
PDHA1 is in 14 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 Green
Created: 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)

Green List (high evidence)

Discussed with Andrew Jackson
Created: 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

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