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Newborns main panel

Gene: DBT

Green List (high evidence)
DBT (dihydrolipoamide branched chain transacylase E2)
EnsemblGeneIds (GRCh38): ENSG00000137992
EnsemblGeneIds (GRCh37): ENSG00000137992
OMIM: 248610, Gene2Phenotype
DBT is in 8 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:39 p.m. | Last Modified: 1 Jun 2023, 2:39 p.m.
Panel Version: 0.137
DBT curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Maple syrup urine disease, type II
OMIM
248610
Clinvar variants
Variants in DBT
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Maple syrup urine disease, type II for gene: DBT

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Maple syrup urine disease, type II for gene: DBT

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Maple syrup urine disease, type II for gene: DBT

5 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Maple syrup urine disease, type II for gene: DBT

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Maple syrup urine disease, type II for gene: DBT

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: DBT was added gene: DBT was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal