PC

pyruvate carboxylase
OMIM: 608786
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PYRUVATE CARBOXYLASE DEFICIENCY 266150
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 carboxylase deficiency (Disorders of gluconeogenesis), lactic acidosis, hypotonia, encephalopathy, Pyruvate carboxylase deficiency 266150, Pyruvate carboxylase deficiency
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
Pyruvate carboxylase deficiency, 266150, PYRUVATE CARBOXYLASE DEFICIENCY (PC DEFICIENCY)
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate carboxylase deficiency
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate carboxylase deficiency, 266150