Hyperammonaemia
Gene: BCKDHA

BCKDHA (branched chain keto acid dehydrogenase E1, alpha polypeptide)
EnsemblGeneIds (GRCh38): ENSG00000248098
EnsemblGeneIds (GRCh37): ENSG00000248098
OMIM: 608348, Gene2Phenotype
BCKDHA is in 8 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Phenotype relevant according to Peter Clayton (UCL Institute of Child Health)
Created: 21 Nov 2016, 3:11 p.m.

Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least nine variants reported.
Created: 3 Nov 2016, 5:28 p.m.

Created: 3 Nov 2016, 5:28 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 E1alpha 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 Ia 248600

OMIM

608348

Clinvar variants

Variants in BCKDHA

Penetrance

Complete

Panels with this gene