Mitochondrial disorders
Gene: HADHA
HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000084754
EnsemblGeneIds (GRCh37): ENSG00000084754
OMIM: 600890, Gene2Phenotype
HADHA is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000084754
EnsemblGeneIds (GRCh37): ENSG00000084754
OMIM: 600890, Gene2Phenotype
HADHA is in 18 panels
1 review
Sarah Leigh (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- Phenotypes
-
- LCHAD deficiency, 609016
- Trifunctional protein deficiency, 609015
- OMIM
- 600890
- Clinvar variants
- Variants in HADHA
- Penetrance
- None
- Panels with this gene
-
- Cholestasis
- Undiagnosed metabolic disorders
- Likely inborn error of metabolism
- Hyperammonaemia
- Fetal hydrops
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Intellectual disability
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- DDG2P
- Neonatal cholestasis
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy
- Acute rhabdomyolysis
- Fetal anomalies
History Filter Activity
23 Jul 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: HADHA was added gene: HADHA was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHA were set to LCHAD deficiency, 609016; Trifunctional protein deficiency, 609015