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 17 panels

1 review

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

History Filter Activity

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