Mitochondrial disorders

Gene: SLC25A20

Green List (high evidence)

>3 cases. Condition is a recessive disorder of mitochondrial fatty acid oxidation and we have included it in our mitochondrial panel in line with the groupings in PMID: 25778941.

Created: 23 Mar 2020, 1:37 a.m. | Last Modified: 23 Mar 2020, 1:37 a.m.

Panel Version: 2.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Carnitine-acylcarnitine translocase deficiency MIM#212138

Publications

• 9399886
• 31108048
• 25778941

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

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.

Created: 1 Aug 2023, 4:09 p.m. | Last Modified: 1 Aug 2023, 4:09 p.m.

Panel Version: 4.66

SLC25A20 variants have been associated with Carnitine-acylcarnitine translocase deficiency in OMIM and as definitive Gen2Phen gene for the same condition. Numerous variants have been reported in unrelated cases.

Created: 1 Aug 2023, 4:08 p.m. | Last Modified: 1 Aug 2023, 4:08 p.m.

Panel Version: 4.65

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