Hydrops fetalis
Gene: HADH
HADH (hydroxyacyl-CoA dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000138796
EnsemblGeneIds (GRCh37): ENSG00000138796
OMIM: 601609, Gene2Phenotype
HADH is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000138796
EnsemblGeneIds (GRCh37): ENSG00000138796
OMIM: 601609, Gene2Phenotype
HADH is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Cannot find specific reports of hydrops associated with this metabolic disorder.
Sources: Expert listCreated: 13 Aug 2020, 7:30 a.m.
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 Red
- Expert list
- Phenotypes
-
- 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530
- OMIM
- 601609
- Clinvar variants
- Variants in HADH
- Penetrance
- None
- 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
13 Aug 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hadh has been classified as Red List (Low Evidence).
13 Aug 2020, Gel status: 1
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 Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADH were set to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530 Review for gene: HADH was set to RED