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Prepair 1000+

Gene: OXCT1

No list

OXCT1 (3-oxoacid CoA-transferase 1)
EnsemblGeneIds (GRCh38): ENSG00000083720
EnsemblGeneIds (GRCh37): ENSG00000083720
OMIM: 601424, Gene2Phenotype
OXCT1 is in 5 panels

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Comment when marking as ready: Green at review
Created: 13 Mar 2025, 2:59 a.m. | Last Modified: 13 Mar 2025, 2:59 a.m.
Panel Version: 1.1575

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Strong disease gene association. 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. Severe condition, onset in infancy. Can be lethal if untreated. Involves diet modification.
Created: 12 Mar 2025, 11:22 p.m. | Last Modified: 12 Mar 2025, 11:22 p.m.
Panel Version: 1.1568

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 Removed
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

13 Mar 2025, Gel status: 0

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: oxct1 has been removed from the panel.

13 Mar 2025, Gel status: 0

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: OXCT1 were changed from to Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050

13 Mar 2025, Gel status: 0

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: OXCT1 were set to

12 Dec 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance

Andrew Coventry (Victorian Clinical Genetics Services)

gene: OXCT1 was added gene: OXCT1 was added to Prepair 1000+. Sources: Literature Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal