PDHB

pyruvate dehydrogenase E1 beta subunit
OMIM: 179060
PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate dehydrogenase E1-beta deficiency, 614111
R-numbers: R63
Signed-off version 1.17
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