Cardiomyopathy_Paediatric
Gene: HADHAEnsemblGeneIds (GRCh38): ENSG00000084754
EnsemblGeneIds (GRCh37): ENSG00000084754
OMIM: 600890, Gene2Phenotype
HADHA is in 17 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- MetBioNet
- NHS GMS
- Phenotypes
-
- Trifunctional protein deficiency 609015
- Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation)
- Mitochondrial Trifunctional Protein deficiency
- Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism
- HCM
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
- Tags
- OMIM
- 600890
- Clinvar variants
- Variants in HADHA
- Penetrance
- None
- Publications
- 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
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: HADHA.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: HADHA was added gene: HADHA was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HADHA were set to 27604308 Phenotypes for gene: HADHA were set to Trifunctional protein deficiency 609015; Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation); Mitochondrial Trifunctional Protein deficiency; Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism; HCM; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)