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Fetal anomalies

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 15 panels

2 reviews

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

PMID:26865159 reports 2 families with variants in PDHA1 where there was antenatal presentation of pyruvate dehydrogenase deficiency associated with craniofacial features and structural neurological defects including neuronal migration defects and cerebellar and brainstem hypoplasia.
Created: 5 Jul 2019, 7:50 a.m. | Last Modified: 5 Jul 2019, 7:50 a.m.
Panel Version: 0.295

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

Publications

Created: 5 Jul 2019, 7:50 a.m.
Last Modified: 5 Jul 2019, 7:50 a.m.
Panel version: 0.295

Rebecca Foulger (Genomics England curator)

I don't know

Kept rating of PDHA1 as Green based on Green review by Anna de Burca, and agreement with Richard Scott from the Genomics England Clinical team.
Created: 12 Aug 2019, 10:39 a.m. | Last Modified: 12 Aug 2019, 10:39 a.m.
Panel Version: 0.329
DDG2P rating in original PAGE list: Confirmed for X-LINKED LEIGH SYNDROME, Confirmed for PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES, and Confirmed for INTELLECTUAL DISABILTIY.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOI listed as Hemizgyous for X-LINKED LEIGH SYNDROME and INTELLECTUAL DISABILTIY, and X-linked dominant for PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES. In the original PAGE file, MOP listed as LOF for PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES and INTELLECTUAL DISABILTIY, and listed as All missense/in frame for X-LINKED LEIGH SYNDROME.
Created: 8 Nov 2018, 4:45 p.m.
Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.329

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
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Pyruvate dehydrogenase E1-alpha deficiency
  • X-LINKED LEIGH SYNDROME
  • PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES
  • INTELLECTUAL DISABILTIY
OMIM
300502
Clinvar variants
Variants in PDHA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Aug 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: PDHA1 were changed from X-LINKED LEIGH SYNDROME; PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES; INTELLECTUAL DISABILTIY to Pyruvate dehydrogenase E1-alpha deficiency; X-LINKED LEIGH SYNDROME; PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES; INTELLECTUAL DISABILTIY

12 Aug 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: PDHA1 were set to

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes INTELLECTUAL DISABILTIY for gene: PDHA1

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES for gene: PDHA1

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: PDHA1 was added gene: PDHA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: PDHA1 were set to X-LINKED LEIGH SYNDROME