PHKA1

phosphorylase kinase regulatory subunit alpha 1
OMIM: 311870
PanelMode of inheritanceDetails
5 panels
R-numbers: R419
Signed-off version 1.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Muscle glycogenosis, OMIM:300559
R-numbers: R274
Signed-off version 1.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Muscle glycogenosis 300559
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Muscle glycogenosis, 300559
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Muscle glycogenosis, 300559
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Muscle glycogenosis 300559