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  2. Hyperinsulinism
  3. HADH
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Hyperinsulinism

Gene: HADH

Green List (high evidence)
HADH (hydroxyacyl-CoA dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000138796
EnsemblGeneIds (GRCh37): ENSG00000138796
OMIM: 601609, Gene2Phenotype
HADH is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 2 May 2022, 12:54 a.m. | Last Modified: 2 May 2022, 12:54 a.m.
Panel Version: 0.13552

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 2 May 2022, 12:54 a.m.
Last Modified: 2 May 2022, 12:54 a.m.
Panel version: Imported from Mendeliome panel version 0.13552

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530
  • Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975
OMIM
601609
Clinvar variants
Variants in HADH
Penetrance
None
Panels with this gene

History Filter Activity

12 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hadh has been classified as Green List (High Evidence).

12 Sep 2022, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: HADH were changed from to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975

12 Sep 2022, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: HADH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HADH was added gene: HADH was added to Hyperinsulinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HADH was set to Unknown