Rhabdomyolysis and metabolic muscle disordersGene: PHKA1
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.
Publications for PHKA1 were set to 27604308; 25929793; 12825073; 15637709
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
PHKA1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Literature,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Model of inheritance for gene PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene PHKA1 were set to Muscle glycogenosis 300559
PHKA1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN
PHKA1 was created by sleigh