Hyperammonaemia

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 11 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.

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.

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

Details

History Filter Activity

22 Nov 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 on 22nd November 2016

21 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Nov 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for BCKDHB were set to Maple syrup urine disease, type Ib 248600

21 Nov 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for BCKDHB was changed to BIALLELIC, autosomal or pseudoautosomal

21 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

BCKDHB was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory