Possible mitochondrial disorder - nuclear genes
Gene: OXCT1
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
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
Gene: oxct1 has been classified as Amber List (Moderate Evidence).
Publications for gene: OXCT1 were set to
Tag Q3_23_promote_green tag was added to gene: OXCT1.
gene: OXCT1 was added gene: OXCT1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050