Genomics England
GMS Panels
Panels
Genes and Entities

HACD1

3-hydroxyacyl-CoA dehydratase 1
OMIM: 610467
PanelMode of inheritanceDetails
2 panels
Green
in Congenital muscular dystrophy and congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, nonprogressive, OMIM:619967
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HACD1-related congenital myopathy