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Inborn errors of metabolism

Gene: HADH

Green List (high evidence)

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

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Numerous variants reported in unrelated cases of Hyperinsulinemic hypoglycemia, familial, 4 609975.
Created: 15 Aug 2019, 10:43 a.m. | Last Modified: 15 Aug 2019, 10:43 a.m.
Panel Version: 1.146
Comment on phenotypes: Intellectual disability;Hyperinsulinism;3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
Created: 15 Aug 2019, 10:16 a.m. | Last Modified: 15 Aug 2019, 10:16 a.m.
Panel Version: 1.144
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: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412

Details

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

History Filter Activity

15 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

15 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: HADH were set to 27604308

15 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: HADH were changed from Intellectual disability; Hyperinsulinism; 3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) to 3-hydroxyacyl-CoA dehydrogenase deficiency 231530; Hyperinsulinemic hypoglycemia, familial, 4 609975

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to HADH. Source London North GLH was added to HADH.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: HADH was added gene: HADH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADH were set to 27604308 Phenotypes for gene: HADH were set to Intellectual disability; Hyperinsulinism; 3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)