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  2. Fatty Acid Oxidation Defects
  3. OXCT1
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Fatty Acid Oxidation Defects

Gene: OXCT1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Succinyl CoA:3-oxoacid CoA transferase deficiency, MIM# 245050

Publications

Created: 29 Jul 2020, 11:38 a.m.
Last Modified: 29 Jul 2020, 11:38 a.m.
Panel version: 0.26

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

The enzyme catalyses the first step of ketone body utilization, ketone bodies are produced predominantly in the liver from fatty acid oxidation-derived acetyl-coenzyme A (CoA), and they are transported to extrahepatic tissues for terminal oxidation. At least 4 cases reported with the condition.
Sources: Expert list
Created: 23 Apr 2020, 12:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050

Publications

Created: 23 Apr 2020, 12:30 a.m.

Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
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

29 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: oxct1 has been classified as Green List (High Evidence).

29 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: OXCT1 were set to 8751852; 10964512; 28178565

23 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: oxct1 has been classified as Green List (High Evidence).

23 Apr 2020, Gel status: 1

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 Fatty Oxidation Defects. Sources: Expert list Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OXCT1 were set to 8751852; 10964512; 28178565 Phenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050 Review for gene: OXCT1 was set to GREEN