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Mitochondrial disease

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

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association
Created: 21 Apr 2022, 6:06 a.m. | Last Modified: 21 Apr 2022, 6:06 a.m.
Panel Version: 0.13143

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pyruvate dehydrogenase E1-beta deficiency - MIM#614111

Details

Mode of Inheritance
Unknown
Sources
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
OMIM
179060
Clinvar variants
Variants in PDHB
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PDHB was added gene: PDHB was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: PDHB was set to Unknown