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Prepair 1000+

Gene: PDHB

Green List (high evidence)
PDHB (pyruvate dehydrogenase E1 beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000168291
EnsemblGeneIds (GRCh37): ENSG00000168291
OMIM: 179060, Gene2Phenotype
PDHB is in 11 panels

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Features include encephalopathy, hypotonia, respiratory difficulties, seizures, and lactic acidosis. Agenesis of the corpus callosum is often present. Patients with a severe clinical course die in infancy. Reported in >5 unrelated families.
Created: 30 Dec 2024, 2:43 a.m. | Last Modified: 30 Dec 2024, 2:43 a.m.
Panel Version: 1.978

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pyruvate dehydrogenase E1-beta deficiency, MIM #614111

Publications

Created: 30 Dec 2024, 2:43 a.m.
Last Modified: 30 Dec 2024, 2:43 a.m.
Panel version: 1.978

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pyruvate dehydrogenase E1-beta deficiency, MIM#614111
OMIM
179060
Clinvar variants
Variants in PDHB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdhb has been classified as Green List (High Evidence).

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PDHB were changed from Pyruvate dehydrogenase E1-beta deficiency, 614111 (3) to Pyruvate dehydrogenase E1-beta deficiency, MIM#614111

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PDHB were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Pyruvate dehydrogenase E1-beta deficiency, 614111 (3) for gene: PDHB

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PDHB was added gene: PDHB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)