Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DD/ID is a feature of this metabolic disorder.
Created: 8 Dec 2019, 7:37 p.m. | Last Modified: 8 Dec 2019, 7:37 p.m.
Panel Version: 0.943

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pyruvate dehydrogenase E1-beta deficiency, MIM#614111

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
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

10 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PDHB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

10 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

8 Dec 2019, 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).

8 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PDHB were set to

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDHB was set to Unknown