Mitochondrial disorders

Gene: SLC22A5

Green List (high evidence)

>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: 25778941

Created: 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

• 9916797
• 25778941
• 17884651
• 25778941

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 2 May 2024, 10:34 a.m. | Last Modified: 2 May 2024, 10:34 a.m.

Panel Version: 6.3

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