Mitochondrial disorders
Gene: SLC22A5
>3 cases and a mouse model. Protein has a function in carnitine-dependent oxidation of long-chain fatty acids in mitochondria. We have included it in our mitochondrial panel in line with the groupings suggested in PMID: 25778941Created: 23 Mar 2020, 1:30 a.m. | Last Modified: 23 Mar 2020, 1:30 a.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carnitine deficiency, systemic primary MIM#212140
Publications
Variants in this GENE are reported as part of current diagnostic practice
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, 3:08 p.m. | Last Modified: 8 Aug 2023, 9:40 a.m.
Panel Version: 4.71
Numerous SLC22A5 variants have been associated with OMIM:212140, and SLC22A5 has a definitive association in Gen2Phen for Systemic Carnitine Deficiency. A supportive mouse model has also been reported (PMID: 17884651).Created: 13 Jul 2023, 12:58 p.m. | Last Modified: 13 Jul 2023, 12:59 p.m.
Panel Version: 4.56
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 13 Jul 2023, 12:52 p.m. | Last Modified: 13 Jul 2023, 12:52 p.m.
Panel Version: 4.55
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag Q3_23_MOI was removed from gene: SLC22A5.
Tag Q3_23_MOI tag was added to gene: SLC22A5.
Publications for gene: SLC22A5 were set to 9916797; 17884651; 25778941; 28857146
Publications for gene: SLC22A5 were set to 9916797; 17884651; 25778941
Tag Q3_23_promote_green tag was added to gene: SLC22A5.
Gene: slc22a5 has been classified as Amber List (Moderate Evidence).
Publications for gene: SLC22A5 were set to 9916797; 25778941; 17884651; 25778941
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
Publications for gene: SLC22A5 were set to
gene: SLC22A5 was added gene: SLC22A5 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, 212140