BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: DBT

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

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; gilissen_2014_known; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function
Created: 7 Feb 2017, 4:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Maple syrup urine disease, type II, 248600

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 4:18 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

BRIDGE

Phenotypes

Maple syrup urine disease, type II, 248600

OMIM

248610

Clinvar variants

Variants in DBT

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DBT was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source