PDHB

pyruvate dehydrogenase E1 beta subunit
OMIM: 179060
PanelMode of inheritanceDetails
6 panels
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate dehydrogenase E1-beta deficiency, OMIM: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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111
R-numbers: R316
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111