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  2. Likely inborn error of metabolism
  3. BCAT1
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Likely inborn error of metabolism

Gene: BCAT1

Red List (low evidence)
BCAT1 (branched chain amino acid transaminase 1)
EnsemblGeneIds (GRCh38): ENSG00000060982
EnsemblGeneIds (GRCh37): ENSG00000060982
OMIM: 113520, Gene2Phenotype
BCAT1 is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with phenotype in OMIM, not in G2P. No variants 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

Created: 23 Feb 2017, 5:12 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance
Unknown
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria)
OMIM
113520
Clinvar variants
Variants in BCAT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to BCAT1. Source London North GLH was added to BCAT1.

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: BCAT1 was added gene: BCAT1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: BCAT1 was set to Unknown Publications for gene: BCAT1 were set to 27604308 Phenotypes for gene: BCAT1 were set to Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria)