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
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 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease Ia, OMIM:232200