Aminoacidopathy
Gene: DBT
DBT (dihydrolipoamide branched chain transacylase E2)
EnsemblGeneIds (GRCh38): ENSG00000137992
EnsemblGeneIds (GRCh37): ENSG00000137992
OMIM: 248610, Gene2Phenotype
DBT is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000137992
EnsemblGeneIds (GRCh37): ENSG00000137992
OMIM: 248610, Gene2Phenotype
DBT is in 12 panels
1 review
Teresa Zhao (Victorian Clinical Genetics Services)
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
- 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