Mitochondrial disorders
Gene: OXCT1
Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence available (at least three unrelated cases and functional evidence) in support of the association of this gene to Succinyl CoA:3-oxoacid CoA transferase deficiency (a mitochondrial enzyme).
In addition, this gene has been associated with this phenotype in both OMIM (MIM #245050) and Gene2Phenotype ('definitive' rating in the DD panel.
This gene can therefore be promoted to green rating in the next GMS update.Created: 14 Aug 2023, 5:25 p.m. | Last Modified: 14 Aug 2023, 5:25 p.m.
Panel Version: 4.73
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Succinyl CoA:3-oxoacid CoA transferase deficiency, OMIM:245050
Publications
A mitochondrial matrix enzyme. Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inherited metabolic disorder of ketone metabolism. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. We have included it in our mitochondrial panel following the groupings suggested in PMID: 25778941Created: 23 Mar 2020, 12:14 a.m. | Last Modified: 23 Mar 2020, 12:14 a.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Succinyl CoA:3-oxoacid CoA transferase deficiency, MIM#245050
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
Tag Q3_23_promote_green tag was added to gene: OXCT1.
Gene: oxct1 has been classified as Amber List (Moderate Evidence).
Publications for gene: OXCT1 were set to
gene: OXCT1 was added gene: OXCT1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red 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