OXCT1

3-oxoacid CoA-transferase 1
OMIM: 601424, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green OXCT1 in Ketotic hypoglycaemia Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes severe ketosis on fasting often ketotic in fed state no hepatomegaly Succinyl CoA:3-oxoacid CoA transferase deficiency
Green OXCT1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Succinyl-CoA:3-Oxoacid-CoA transferase (SCOT) deficiency (Disorders of ketone body metabolism) Succinyl CoA:3-oxoacid CoA transferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) severe ketosis on fasting often ketotic in fed state no hepatomegaly Succinyl CoA:3-oxoacid CoA transferase deficiency
Green OXCT1 in Likely inborn error of metabolism - targeted testing not possible Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH NHS GMS Expert Review Green Phenotypes Succinyl CoA:3-oxoacid CoA transferase deficiency severe ketosis on fasting often ketotic in fed state no hepatomegaly Succinyl-CoA:3-Oxoacid-CoA transferase (SCOT) deficiency (Disorders of ketone body metabolism) Succinyl CoA:3-oxoacid CoA transferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Amber OXCT1 in Possible mitochondrial disorder - nuclear genes Version 3.106 Latest signed off version: v3.105 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 Tags Q3_23_promote_green
Red OXCT1 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY
Green OXCT1 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY 245050
Red OXCT1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.12 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Succinyl-CoA: 3-Oxoacid CoA Transferase (SCOT) Deficiency SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY
Green OXCT1 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 6.4 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050
Red OXCT1 in Childhood onset dystonia, chorea or related movement disorder Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources Expert Review Red London North GLH
Green OXCT1 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050