Mitochondrial disease
Gene: OXCT1EnsemblGeneIds (GRCh38): ENSG00000083720
EnsemblGeneIds (GRCh37): ENSG00000083720
OMIM: 601424, Gene2Phenotype
OXCT1 is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.Created: 29 Jul 2020, 11:41 a.m. | Last Modified: 29 Jul 2020, 11:41 a.m.
Panel Version: 0.3575
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050
Publications
Bryony Thompson (Royal Melbourne Hospital)
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.
Sources: NHS GMS, LiteratureCreated: 21 Mar 2020, 6 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Literature
- NHS GMS
- Victorian Clinical Genetics Services
- Phenotypes
-
- Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050
- OMIM
- 601424
- Clinvar variants
- Variants in OXCT1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: oxct1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: oxct1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: OXCT1 was added gene: OXCT1 was added to Mitochondrial disease. Sources: NHS GMS,Literature Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OXCT1 were set to 25778941; 10964512; 8751852; 23420214 Phenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050 Review for gene: OXCT1 was set to GREEN