Rhabdomyolysis and metabolic muscle disorders
Gene: PHKA1

PHKA1 (phosphorylase kinase regulatory subunit alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000067177
EnsemblGeneIds (GRCh37): ENSG00000067177
OMIM: 311870, Gene2Phenotype
PHKA1 is in 8 panels

2 reviews

Richard Kirk (Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

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

Phenotypes
Glycogen storage disease IXd

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Jul 2017, 3:24 p.m.

Panel version: 1.4

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least five variants reported in at least six cases
Created: 17 Jan 2017, 4:40 p.m.

Created: 5 Dec 2016, 11:18 a.m.

Panel version: 0.73

Details

Mode of Inheritance

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

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Literature
UKGTN

Phenotypes

Muscle glycogenosis 300559

OMIM

311870

Clinvar variants

Variants in PHKA1

Penetrance

Complete

Publications

Panels with this gene