GYS2

glycogen synthase 2
OMIM: 138571
PanelMode of inheritanceDetails
2 panels
R-numbers: R274
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease 0, liver 240600
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, Glycogen Storage Disease Type 0, Liver, Glycogen Storage Disorders- Liver, Glycogen storage disease type 0a, liver (Glycogen storage disorders), Glycogen storage disease, type 0, 240600, fasting intolerance without enlarged liver