HACD1:Ensemblv90

3-hydroxyacyl-CoA dehydratase 1
OMIM: 610467, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green HACD1 in Mendeliome


Version 1.3802

1 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 1.112

Component of the following Super Panels:

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

    Green HACD1 in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

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