PDHB

pyruvate dehydrogenase E1 beta subunit
OMIM: 179060
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate dehydrogenase E1-beta deficiency, MIM#614111
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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism), Pyruvate dehydrogenase E1-beta deficiency, 614111
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate dehydrogenase E1-beta deficiency, 614111
R-numbers: R63
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111
R-numbers: R316
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111