Rhabdomyolysis and metabolic muscle disordersGene: SLC22A5
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 20 variants reported.
Created: 5 Dec 2016, 12:19 p.m.
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
SLC22A5 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Literature,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Model of inheritance for gene SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene SLC22A5 were set to Carnitine deficiency, systemic primary 212140
SLC22A5 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN
SLC22A5 was created by sleigh