Ketotic hypoglycaemia
Gene: OXCT1

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