Genomics England
GMS Panels
Panels
Genes and Entities

PHKA2

phosphorylase kinase regulatory subunit alpha 2
OMIM: 300798
PanelMode of inheritanceDetails
2 panels
Green
in Glycogen storage disease
R-numbers: R274
Signed-off version 2.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Glycogen storage disease, type IXa2 306000, Glycogen storage disease, type IXa1 306000
Green
in Likely inborn error of metabolism
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 7.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Glycogen Storage Disease, Glycogen Storage Disorders- Liver, Glycogen storage disease, type IXa2, 306000, Glycogen storage disease, type IXa1, 306000, hepatomegaly and mild hypoglycaemia, Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency (Glycogen storage disorders)