Glycogen Storage Diseases
Gene: PHKA1

PHKA1 (phosphorylase kinase regulatory subunit alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000067177
EnsemblGeneIds (GRCh37): ENSG00000067177
OMIM: 311870, Gene2Phenotype
PHKA1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Glycogen storage disease type IXd is an X-linked recessive, relatively mild metabolic disorder characterized by variable exercise-induced muscle weakness or stiffness. Most patients have adult-onset of symptoms, and some can remain asymptomatic even in late adulthood. The phenotype is usually only apparent with intense exercise.

Well established gene-disease association.
Created: 6 Mar 2021, 7:16 a.m. | Last Modified: 6 Mar 2021, 7:16 a.m.

Panel Version: 0.72

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Muscle glycogenosis, MIM# 300559

Publications

Created: 6 Mar 2021, 7:16 a.m.
Last Modified: 6 Mar 2021, 7:16 a.m.
Panel version: 0.72

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Muscle glycogenosis, MIM# 300559

OMIM

311870

Clinvar variants

Variants in PHKA1

Penetrance

None

Publications

Panels with this gene