Genomics England
GMS Panels
Panels
Genes and Entities

DBT

dihydrolipoamide branched chain transacylase E2
OMIM: 248610
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MAPLE SYRUP URINE DISEASEQ 248600
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Maple syrup urine disease, type II, 248600, seizures, convulsions
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Maple syrup urine disease, type II, 248600, MAPLE SYRUP URINE DISEASEQ
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dihydrolipoamide branched chain transacylase deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria), Maple syrup urine disease, type II