Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Possible mitochondrial disorder - nuclear genes

Gene: HADH

Red List (low evidence)

HADH (hydroxyacyl-CoA dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000138796
EnsemblGeneIds (GRCh37): ENSG00000138796
OMIM: 601609, Gene2Phenotype
HADH is in 11 panels

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-hydroxyacyl-CoA dehydrogenase deficiency, 231530; Hyperinsulinemic hypoglycemia, familial, 4, 609975

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 4, 609975
  • 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530
OMIM
601609
Clinvar variants
Variants in HADH
Penetrance
None
Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: HADH was added gene: HADH was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADH were set to Hyperinsulinemic hypoglycemia, familial, 4, 609975; 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530