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Intellectual disability

Gene: PDHB

Amber List (moderate evidence)

PDHB (pyruvate dehydrogenase E1 beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000168291
EnsemblGeneIds (GRCh37): ENSG00000168291
OMIM: 179060, Gene2Phenotype
PDHB is in 9 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review - moderate ID/DD reported in multiple surviving patients.
Created: 12 Aug 2020, 9:15 a.m. | Last Modified: 12 Aug 2020, 9:15 a.m.
Panel Version: 3.245

Zornitza Stark (Australian Genomics)

Green List (high evidence)

DD/ID is a feature of this metabolic disorder.
Sources: Expert list
Created: 10 Feb 2020, 2:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pyruvate dehydrogenase E1-beta deficiency, MIM#614111

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

History Filter Activity

12 Aug 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: PDHB were set to 15138885; 26014431

12 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: pdhb has been classified as Amber List (Moderate Evidence).

12 Aug 2020, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: PDHB.

10 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PDHB was added gene: PDHB was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDHB were set to 15138885; 26014431 Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, MIM#614111 Review for gene: PDHB was set to GREEN gene: PDHB was marked as current diagnostic