Genomics England
GMS Panels
Panels
Genes and Entities

BCKDHB

branched chain keto acid dehydrogenase E1 subunit beta
OMIM: 248611
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MAPLE SYRUP URINE DISEASE 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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Maple syrup urine disease, type Ib 248600
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Maple syrup urine disease, type Ib, 248600, Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropath, Maple Syrup Urine Disease
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Maple syrup urine disease, type Ib, 248600, MAPLE SYRUP URINE DISEASE
Green
in Likely inborn error of metabolism
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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Maple syrup urine disease, type Ib, BCKD E1 beta subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria)