Ketotic hypoglycaemia

Gene: OXCT1

Green List (high evidence)

OXCT1 (3-oxoacid CoA-transferase 1)
EnsemblGeneIds (GRCh38): ENSG00000083720
EnsemblGeneIds (GRCh37): ENSG00000083720
OMIM: 601424, Gene2Phenotype
OXCT1 is in 10 panels

2 reviews

Alexander Broomfield (Central Manchester Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added by reviewer and rated as green for inclusion on this panel. It is a confirmed DD gene for Succinyl CoA:3-oxoacid CoA transferase deficiency and there are multiple cases and different variants reported in OMIM.
Created: 8 Jun 2016, 9:21 a.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM, and by review.
Created: 20 Apr 2016, 1:34 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • severe ketosis on fasting often ketotic in fed state no hepatomegaly
  • Succinyl CoA:3-oxoacid CoA transferase deficiency
OMIM
601424
Clinvar variants
Variants in OXCT1
Penetrance
Complete
Publications
  • Middleton B , Day R 1987 and Kassovska-Bratinova S, Fukao, T 1996
Panels with this gene

History Filter Activity

8 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

20 Apr 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for OXCT1 were set to severe ketosis on fasting often ketotic in fed state no hepatomegaly; Succinyl CoA:3-oxoacid CoA transferase deficiency

20 Apr 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for OXCT1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Apr 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Oct 2015, Gel status: 0

Added New Source

Alexander Broomfield (Central Manchester Foundation Trust)

OXCT1 was added to Ketotic hypoglycaemiapanel. Sources: Literature