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Intellectual disability

Gene: PDHB

No list

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

1 review

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

History Filter Activity

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