Acute rhabdomyolysis
Gene: SLC22A5The 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, 2:57 p.m. | Last Modified: 8 Aug 2023, 9:41 a.m.
Panel Version: 1.12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 2:32 p.m. | Last Modified: 16 Feb 2022, 2:32 p.m.
Panel Version: 0.6
Tag Q3_23_MOI was removed from gene: SLC22A5.
Publications for gene: SLC22A5 were set to 29895548
Tag Q3_23_MOI tag was added to gene: SLC22A5.
Phenotypes for gene: SLC22A5 were changed from Carnitine deficiency, systemic primary, OMIM:212140 to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
gene: SLC22A5 was added gene: SLC22A5 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC22A5 were set to 29895548 Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, OMIM:212140