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Inborn errors of metabolism

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

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment 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

Saikat Santra (Birmingham Children's Hospital)

Green List (high evidence)

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 Unpublished cases also exist and it is now a recognized cause of elevated branched chain amino acid levels which may be investigated by this panel.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

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with phenotype in OMIM, not in G2P. No variants reported in human, mouse model reported
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria)
Tags
treatable
OMIM
113530
Clinvar variants
Variants in BCAT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

4 Dec 2019, Gel status: 1

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: BCAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

4 Dec 2019, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

Tag treatable tag was added to gene: BCAT2.

4 Dec 2019, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: BCAT2 were set to 27604308

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to BCAT2. Source London North GLH was added to BCAT2.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

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)