Hyperammonaemia
Gene: BCKDHB

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

3 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least six variants reported in four homozygotes and one compound heterozygote.
Created: 21 Nov 2016, 3:15 p.m.

Comment on phenotypes: Phenotype relevant according to Peter Clayton (UCL Institute of Child Health)
Created: 21 Nov 2016, 3:14 p.m.

Created: 3 Nov 2016, 5:30 p.m.

Panel version: 0.128

Ellen McDonagh (Genomics England Curator)

Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.
Created: 5 Nov 2015, 5:19 p.m.

Created: 5 Nov 2015, 5:19 p.m.

Panel version: 0

Peter Clayton (UCL Institute of Child Health)

Green List (high evidence)

Mild hyperammonaemia can be present in MSUD but the high leucine is the cause of encephalopathy
Created: 5 Nov 2015, 4:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Maple syrup urine disease E1beta deficiency

Created: 5 Nov 2015, 4:51 p.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory

Phenotypes

Maple syrup urine disease, type Ib 248600

OMIM

248611

Clinvar variants

Variants in BCKDHB

Penetrance

Complete

Panels with this gene