Genomics England
GMS Panels
Panels
Genes and Entities

PHKB

phosphorylase kinase regulatory subunit beta
OMIM: 172490
PanelMode of inheritanceDetails
2 panels
Green
in Glycogen storage disease
R-numbers: R274
Signed-off version 2.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease Ixb, Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
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)