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Newborns main panel

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

1 review

Arina Puzriakova (Genomics England Curator)

Special Consideration: Females should be reported.

Additional Information: Report males and females.
Created: 31 Dec 2025, 3:09 p.m. | Last Modified: 31 Dec 2025, 3:09 p.m.
Panel Version: 0.499
The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
PDHA1 curation results (clinicalgenome.org)
Created: 31 Dec 2025, 2:27 p.m. | Last Modified: 31 Dec 2025, 2:27 p.m.
Panel Version: 0.498
Created: 31 Dec 2025, 2:27 p.m.
Last Modified: 31 Dec 2025, 2:27 p.m.
Panel version: 0.499

History Filter Activity

31 Dec 2025, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: PDHA1.

31 Dec 2025, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: PDHA1 was added gene: PDHA1 was added to Newborns main panel. Sources: Expert Review Green 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 Pyruvate dehydrogenase E1-alpha deficiency