G6PC

glucose-6-phosphatase catalytic subunit
OMIM: 613742
PanelMode of inheritanceDetails
2 panels
R-numbers: R274
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease Ia 232200
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
Glycogen Storage Disease Type I, Glycogen Storage Disorders- Liver, Glycogen Storage Disease, Glycogen Storage Disease Ia, Glycogen storage disease Ia, 232200, Glycogen storage disease type 1a, von Gierke (Glycogen storage disorders), Glycogen storage disease Ia, fasting intolerance with enlarged liver, renal tubular disease