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DDG2P

Gene: DBT

Green List (high evidence)

DBT (dihydrolipoamide branched chain transacylase E2)
EnsemblGeneIds (GRCh38): ENSG00000137992
EnsemblGeneIds (GRCh37): ENSG00000137992
OMIM: 248610, Gene2Phenotype
DBT is in 9 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MAPLE SYRUP URINE DISEASEQ 248600
OMIM
248610
Clinvar variants
Variants in DBT
Penetrance
None
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: DBT was added gene: DBT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DBT were set to MAPLE SYRUP URINE DISEASEQ 248600