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Newborns main panel

Gene: OXCT1

Green List (high evidence)
OXCT1 (3-oxoacid CoA-transferase 1)
EnsemblGeneIds (GRCh38): ENSG00000083720
EnsemblGeneIds (GRCh37): ENSG00000083720
OMIM: 601424, Gene2Phenotype
OXCT1 is in 9 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 30799594 - 1 case PMID: 33596448 - 10 cases and review 34 previous publications
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency
OMIM
601424
Clinvar variants
Variants in OXCT1
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency for gene: OXCT1

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency for gene: OXCT1

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency for gene: OXCT1

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to OXCT1. Added phenotypes Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency for gene: OXCT1 Rating Changed from No List (delete) to Green List (high evidence)

27 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: OXCT1 was added gene: OXCT1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OXCT1 were set to Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency