Aminoacidopathy

Gene: DBT

Green List (high evidence)

DBT (dihydrolipoamide branched chain transacylase E2)
EnsemblGeneIds (GRCh38): ENSG00000137992
EnsemblGeneIds (GRCh37): ENSG00000137992
OMIM: 248610, Gene2Phenotype
DBT is in 12 panels

1 review

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

well reported gene causing Maple syrup urine disease, type II (MIM#248600)
Created: 24 Jul 2020, 8:19 a.m. | Last Modified: 24 Jul 2020, 8:19 a.m.
Panel Version: 0.3507

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Maple syrup urine disease, type II (MIM#248600)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • maple syrup urine disease MONDO:0009563
Tags
treatable
OMIM
248610
Clinvar variants
Variants in DBT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: DBT.

2 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Sep 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: DBT were set to 29152456

2 Sep 2022, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: DBT was added gene: DBT was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DBT were set to 29152456 Phenotypes for gene: DBT were set to maple syrup urine disease MONDO:0009563