Genomics England
GMS Panels
Panels
Genes and Entities

PHKA1

phosphorylase kinase regulatory subunit alpha 1
OMIM: 311870
PanelMode of inheritanceDetails
5 panels
Green
in Acute rhabdomyolysis
R-numbers: R419
Signed-off version 1.7
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Muscle glycogenosis, OMIM:300559
Green
in Glycogen storage disease
R-numbers: R274
Signed-off version 2.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Muscle glycogenosis 300559
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
Muscle glycogenosis, 300559
Green
in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Muscle glycogenosis, 300559
Green
in Rhabdomyolysis and metabolic muscle disorders
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Muscle glycogenosis 300559