Possible mitochondrial disorder - nuclear genes

Gene: OXCT1

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 4 Dec 2024, 11:42 a.m. | Last Modified: 4 Dec 2024, 11:42 a.m.

Panel Version: 3.113

Comment on list classification: As there is sufficient evidence available, this gene can be promoted to green rating in this panel in the next major update.

Created: 14 Aug 2023, 5:33 p.m. | Last Modified: 14 Aug 2023, 5:33 p.m.

Panel Version: 3.44

As reviewed by Zornitza Stark in Panel 112 (Mitochondrial disorders), succinyl-CoA:3-ketoacid CoA transferase is a mitochondrial matrix enzyme and its deficiency is a rare inherited metabolic disorder of ketone metabolism. There are at least three unrelated cases and supporting functional evidence available for the association of this gene to succinyl CoA:3-oxoacid CoA transferase deficiency.

In addition, this gene has been associated with this phenotype in both OMIM (MIM #245050) and Gene2Phenotype ('definitive' rating in the DD panel).

Created: 14 Aug 2023, 5:31 p.m. | Last Modified: 14 Aug 2023, 5:31 p.m.

Panel Version: 3.42

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Succinyl CoA:3-oxoacid CoA transferase deficiency, OMIM:24505

Publications

• 8751852
• 10964512
• 11757586
• 23420214
• 25778941

Red List (low evidence)

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: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050