OXCT1

3-oxoacid CoA-transferase 1
OMIM: 601424, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green OXCT1 in Fatty Acid Oxidation Defects


Level 2: Metabolic disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050

Green OXCT1 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050

Green OXCT1 in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050

Green OXCT1 in Prepair 1000+


Level 2: Screening
Version 3.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050

Green OXCT1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • Succinyl CoA:3-oxoacid CoA transferase deficiency, MIM# 245050
Tags
  • treatable
  • metabolic