1. Genes and Genomic Entities
  2. HACD1

HACD1

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

2 panels

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


Level 2: Neurology
Version 6.45
Latest signed off version: v6.0 (30 Apr 2025)

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
    Green HACD1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

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