PHKA2

phosphorylase kinase regulatory subunit alpha 2
OMIM: 300798
PanelMode of inheritanceDetails
2 panels
R-numbers: R274
Signed-off version 1.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Glycogen storage disease, type IXa2 306000, Glycogen storage disease, type IXa1 306000
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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)