Genomics England
GMS Panels
Panels
Genes and Entities

PHKB

phosphorylase kinase regulatory subunit beta
OMIM: 172490
PanelMode of inheritanceDetails
3 panels
Green
in Acute rhabdomyolysis
R-numbers: R419
Signed-off version 1.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, OMIM:261750
Green
in Glycogen storage disease
R-numbers: R274
Signed-off version 2.0
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 - targeted testing not possible
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
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)