Genomics England
GMS Panels
Panels
Genes and Entities

G6PC

glucose-6-phosphatase catalytic subunit
OMIM: 613742
PanelMode of inheritanceDetails
2 panels
Green
in Glycogen storage disease
R-numbers: R274
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease Ia 232200
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.0
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