PHKG2

phosphorylase kinase catalytic subunit gamma 2
OMIM: 172471
PanelMode of inheritanceDetails
2 panels
R-numbers: R274
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease IXc 613027
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
hepatomegaly and variable myopathy, Glycogen Storage Disorders- Liver, Glycogen Storage Disease, Glycogen storage disease IXc, 613027, Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders), Cirrhosis due to liver phosphorylase kinase deficiency