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Inborn errors of metabolism

Gene: BCKDHB

Green List (high evidence)

BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000083123
EnsemblGeneIds (GRCh37): ENSG00000083123
OMIM: 248611, Gene2Phenotype
BCKDHB is in 10 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Maple syrup urine disease, type Ib
  • BCKD E1 beta subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria)
OMIM
248611
Clinvar variants
Variants in BCKDHB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to BCKDHB. Source London North GLH was added to BCKDHB.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: BCKDHB was added gene: BCKDHB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCKDHB were set to 27604308 Phenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib; BCKD E1 beta subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria)