Mitochondrial disorders
Gene: SLC25A20
>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
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
Publications for gene: SLC25A20 were set to 9399886; 31108048; 25778941
Gene: slc25a20 has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: SLC25A20.
Phenotypes for gene: SLC25A20 were changed from Carnitine-acylcarnitine translocase deficiency, 212138 to Carnitine-acylcarnitine translocase deficiency, OMIM:212138; carnitine-acylcarnitine translocase deficiency, MONDO:0008918
Publications for gene: SLC25A20 were set to
gene: SLC25A20 was added gene: SLC25A20 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency, 212138