HACD1

3-hydroxyacyl-CoA dehydratase 1
OMIM: 610467, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green HACD1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital myopathy, MONDO:0019952

Green HACD1 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Expert Review Green
    • Expert list
    Phenotypes
    • Congenital myopathy 11 (MIM#619967
    • MONDO:0019952)