Fatty Acid Oxidation Defects
Gene: HADHA
HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000084754
EnsemblGeneIds (GRCh37): ENSG00000084754
OMIM: 600890, Gene2Phenotype
HADHA is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000084754
EnsemblGeneIds (GRCh37): ENSG00000084754
OMIM: 600890, Gene2Phenotype
HADHA is in 17 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.
The HADHA and HADHB genes encode the alpha and beta subunits of the mitochondrial trifunctional protein, respectively. The heterocomplex contains 4 alpha and 4 beta subunits and catalyzes 3 steps in the beta-oxidation of fatty acids, including the long-chain 3-hydroxyacyl-CoA dehydrogenase step. The beta subunit harbors the 3-ketoacyl-CoA thiolase activity. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death, infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy.Created: 3 Jan 2021, 9:24 p.m. | Last Modified: 3 Jan 2021, 9:40 p.m.
Panel Version: 0.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LCHAD deficiency, MIM# 609016
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- LCHAD deficiency, MIM# 609016
- Tags
- OMIM
- 600890
- Clinvar variants
- Variants in HADHA
- Penetrance
- None
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cholestasis
- Cardiomyopathy_Paediatric
- Liver Failure_Paediatric
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Mitochondrial disease
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Fatty Acid Oxidation Defects
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Hyperammonaemia
- Prepair 500+
History Filter Activity
2 Oct 2022, Gel status: 3
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: HADHA.
3 Jan 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hadha has been classified as Green List (High Evidence).
3 Jan 2021, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: HADHA were changed from to LCHAD deficiency, MIM# 609016
3 Jan 2021, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: HADHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: HADHA was added gene: HADHA was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HADHA was set to Unknown