ACACA

acetyl-CoA carboxylase alpha
OMIM: 200350, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber ACACA in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Acetyl-CoA carboxylase deficiency MIM#613933

Amber ACACA in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Acetyl-CoA carboxylase deficiency, MIM# 613933