Likely inborn error of metabolism - targeted testing not possible
Gene: BCAT2Comment on list classification: Promoted from Red to Green due to expert review from representation of the GMS Metabolic disease specialist test group; multiple cases reported and this is a treatable.Created: 4 Dec 2019, 4:31 p.m. | Last Modified: 4 Dec 2019, 4:31 p.m.
Panel Version: 1.420
Added the 'treatable' tag due to PMID: 25653144 which reports improvement in the patient after tretment with vitamin B6.Created: 4 Dec 2019, 4:29 p.m. | Last Modified: 4 Dec 2019, 4:29 p.m.
Panel Version: 1.419
Human variants have been reported in print and also in abstracts at SSIEM conferences 2016 and 2018. Unpublished cases also exist and it is now a recognized cause of elevated branched chain amino acid levels which may be investigated by this panel.Created: 21 Dec 2018, 3:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Associated with phenotype in OMIM, not in G2P. No variants reported in human, mouse model reportedCreated: 23 Feb 2017, 5:12 p.m.
Mode of inheritance
Unknown
Phenotypes
Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria)
Publications
Gene: bcat2 has been classified as Green List (High Evidence).
Mode of inheritance for gene: BCAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Tag treatable tag was added to gene: BCAT2.
Publications for gene: BCAT2 were set to 27604308
Source NHS GMS was added to BCAT2. Source London North GLH was added to BCAT2.
Sarah Leigh: Associated with phenotype in O
gene: BCAT2 was added gene: BCAT2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: BCAT2 was set to Unknown Publications for gene: BCAT2 were set to 27604308 Phenotypes for gene: BCAT2 were set to Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria)