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

BabyScreen+ newborn screening

Gene: HADH

Green List (high evidence)

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

2 reviews

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

variable onset, but often in infancy; rarer than LCHAD or MTP deficiencies

fatty acid oxidation disorder - hypoketotic fasting hypoglycaemia; also a cause of hyperinsulinism

previously known as SCHAD deficiency; PMID: 17434778

suggestive biochemical markers are seen as part of the NBS TMS analysis (PMID: 21745593)

Treatment: IV glucose during acute episodes; diazoxide if hyperinsulinism is present

Note: bezafibrate and triheptanoin have been used for LCHAD and MTP deficiency, but I'm not sure there is specific evidence of their efficacy for HADH deficiency
Created: 4 Dec 2022, 6:36 a.m. | Last Modified: 4 Dec 2022, 6:36 a.m.
Panel Version: 0.1154

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hypoketotic hypoglycaemia; hyperinsulinism; fatty liver

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.

Variable clinical presentation, including death in infancy.

Treatment: IV glucose during acute episodes, avoid fasting, carnitine, restrict LCFA, bezafibrate, triheptanoin
Created: 29 Nov 2022, 7:46 a.m. | Last Modified: 29 Nov 2022, 7:46 a.m.
Panel Version: 0.1131

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category C gene
  • BabySeq Category A gene
  • BeginNGS
Phenotypes
  • 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530
Tags
treatable metabolic
OMIM
601609
Clinvar variants
Variants in HADH
Penetrance
None
Panels with this gene

History Filter Activity

29 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Nov 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Nov 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: HADH. Tag metabolic tag was added to gene: HADH.

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HADH was added gene: HADH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADH were set to Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975