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 - 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
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)