Genomics England
GMS Panels
Panels
Genes and Entities

HADH

hydroxyacyl-CoA dehydrogenase
OMIM: 601609
PanelMode of inheritanceDetails
3 panels
Green
in Congenital hyperinsulinism
R-numbers: R144
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital hyperinsulinemic hypoglycemia (HH), Hyperinsulinism, Dominant/Recessive, 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530, Protein sensitive hyperinsulinism
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY 231530
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-hydroxyacyl-CoA dehydrogenase deficiency 231530, Hyperinsulinemic hypoglycemia, familial, 4 609975