PDHX

pyruvate dehydrogenase complex component X
OMIM: 608769
PanelMode of inheritanceDetails
8 panels
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lacticacidemia due to PDX1 deficiency, 245349
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LACTICACIDEMIA DUE TO PDX1 DEFICIENCY 245349
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lacticacidemia due to PDX1 deficiency 245349
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
Lacticacidemia due to PDX1 deficiency, Pyruvate dehydrogenase E3 binding protein deficiency (Disorders of pyruvate metabolism)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lacticacidemia due to PDX1 deficiency 245349
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lacticacidemia due to PDX1 deficiency
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349
R-numbers: R316
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349