PHKB

phosphorylase kinase regulatory subunit beta
OMIM: 172490
PanelMode of inheritanceDetails
3 panels
R-numbers: R274
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease Ixb, Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750
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 Disorders- Muscle, Glycogen Storage Disease, Glycogen storage disease type IX Hepatic and muscle phosphorylase kinase deficiency (Glycogen storage disorders)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.34
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750