phosphorylase kinase catalytic subunit gamma 2
OMIM: 172471
PanelMode of inheritanceDetails
2 panels
R-numbers: R274
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Glycogen storage disease IXc 613027
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
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