Rhabdomyolysis and metabolic muscle disorders
Gene: SLC22A5
The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).Created: 1 Aug 2023, 2:15 p.m. | Last Modified: 8 Aug 2023, 9:41 a.m.
Panel Version: 3.7
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Tag Q3_23_MOI was removed from gene: SLC22A5.
Phenotypes for gene: SLC22A5 were changed from Carnitine deficiency, systemic primary 212140 to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Tag Q3_23_MOI tag was added to gene: SLC22A5.
Publications for gene: SLC22A5 were set to 25929793
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