Congenital hyperinsulinism

Gene: HADH

Green List (high evidence)

HADH (hydroxyacyl-CoA dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000138796
EnsemblGeneIds (GRCh37): ENSG00000138796
OMIM: 601609, Gene2Phenotype
HADH is in 9 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: HADH; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Protein sensitive hyperinsulinism.
Created: 11 Jan 2019, 2:24 p.m.

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Congenital hyperinsulinemic hypoglycemia (HH)
  • Hyperinsulinism, Dominant/Recessive
  • 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530
  • Protein sensitive hyperinsulinism
OMIM
601609
Clinvar variants
Variants in HADH
Penetrance
Complete
Panels with this gene

History Filter Activity

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: HADH were changed from Congenital hyperinsulinemic hypoglycemia (HH); Hyperinsulinism, Dominant/Recessive; 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 to Congenital hyperinsulinemic hypoglycemia (HH); Hyperinsulinism, Dominant/Recessive; 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530; Protein sensitive hyperinsulinism

11 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to HADH. Rating Changed from Green List (high evidence) to Green List (high evidence)

12 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

HADH was added to Hyperinsulinismpanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

HADH was added to Hyperinsulinismpanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

HADH was added to Hyperinsulinismpanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

HADH was added to Hyperinsulinismpanel. Sources: Emory Genetics Laboratory