Mitochondrial disease
Gene: HADHEnsemblGeneIds (GRCh38): ENSG00000138796
EnsemblGeneIds (GRCh37): ENSG00000138796
OMIM: 601609, Gene2Phenotype
HADH is in 12 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Bryony Thompson (Royal Melbourne Hospital)
Short-chain-L-3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited disorder affecting mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: Literature, NHS GMSCreated: 21 Mar 2020, 7:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- NHS GMS
- Literature
- Victorian Clinical Genetics Services
- Phenotypes
-
- 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530
- OMIM
- 601609
- Clinvar variants
- Variants in HADH
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Hyperinsulinism
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Hydrops fetalis
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Fatty Acid Oxidation Defects
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hadh has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hadh has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hadh has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HADH was added gene: HADH was added to Mitochondrial disease. Sources: Literature,NHS GMS Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADH were set to 25778941; 23430856; 27771675; 11489939 Phenotypes for gene: HADH were set to 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530 Review for gene: HADH was set to GREEN