HACD1

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green HACD1 in Congenital myopathy


Level 2: Neurology
Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London South GLH
    • Expert Review
    Phenotypes
    • Myopathy, congenital, nonprogressive, OMIM:619967
    Red HACD1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.8
    Latest signed off version: v7.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Congenital myopathy 11, OMIM:619967
    Green HACD1 in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HACD1-related congenital myopathy