1. Panels
  2. Aminoacidopathy
  3. BCAT2
STRs in panel
Prev Next
Regions in panel
Prev Next

Aminoacidopathy

Gene: BCAT2

Green List (high evidence)
BCAT2 (branched chain amino acid transaminase 2)
EnsemblGeneIds (GRCh38): ENSG00000105552
EnsemblGeneIds (GRCh37): ENSG00000105552
OMIM: 113530, Gene2Phenotype
BCAT2 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

6 cases from 5 unrelated families with homozygous or compound heterozygous variant, and supporting functional studies demonstrating decreased BCAT2 enzyme activity for some of the variants. Also, a null mouse model has a phenotype similar to human maple syrup urine disease.
Sources: NHS GMS
Created: 1 Feb 2021, 6:29 a.m. | Last Modified: 1 Feb 2021, 6:37 a.m.
Panel Version: 0.6172

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypervalinemia or hyperleucine-isoleucinemia MIM#618850; disorder of branched-chain amino acid metabolism

Publications

Created: 1 Feb 2021, 6:29 a.m.
Last Modified: 1 Feb 2021, 6:37 a.m.
Panel version: Imported from Mendeliome panel version 0.6172

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • hypervalinemia and hyperleucine-isoleucinemia MONDO:0100058
OMIM
113530
Clinvar variants
Variants in BCAT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: bcat2 has been classified as Green List (High Evidence).

2 Sep 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: BCAT2 were set to

2 Sep 2022, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: BCAT2 was added gene: BCAT2 was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green Mode of inheritance for gene: BCAT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCAT2 were set to hypervalinemia and hyperleucine-isoleucinemia MONDO:0100058