Structural basal ganglia disorders

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 16 panels

4 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

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

Variants in this GENE are reported as part of current diagnostic practice

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

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

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Seems to be X-linked dominant for Pyruvate dehydrogenase E1-alpha deficiency, and hemizygous/X-linked recessive for X-linked Leigh syndrome.
Created: 12 Feb 2016, 10:36 a.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green.
Created: 12 Feb 2016, 10:33 a.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

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
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Pyruvate dehydrogenase E1-alpha deficiency 312170
OMIM
300502
Clinvar variants
Variants in PDHA1
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Mar 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

promoted 16/03/2017

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Sep 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

PDHA1 was added to Structural basal ganglia disorderspanel. Source: Radboud University Medical Center, Nijmegen

7 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PDHA1 was created by sleigh

7 Sep 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PDHA1 was added to Structural basal ganglia disorderspanel. Sources: Emory Genetics Laboratory