Hyperammonaemia
Gene: BCKDHBComment 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.
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.
Mild hyperammonaemia can be present in MSUD but the high leucine is the cause of encephalopathyCreated: 5 Nov 2015, 4:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Maple syrup urine disease E1beta deficiency
Promoted to version 1 on 22nd November 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for BCKDHB were set to Maple syrup urine disease, type Ib 248600
Mode of inheritance for BCKDHB was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
BCKDHB was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory