Mitochondrial disease
Gene: OPA1EnsemblGeneIds (GRCh38): ENSG00000198836
EnsemblGeneIds (GRCh37): ENSG00000198836
OMIM: 605290, Gene2Phenotype
OPA1 is in 17 panels
1 review
Ee Ming Wong (Victorian Clinical Genetics Services)
OPA1 is associated with incomplete penetrance (PMID: 30165240).Created: 3 Feb 2020, 11:42 p.m. | Last Modified: 3 Feb 2020, 11:42 p.m.
Panel Version: 0.1220
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
1. ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) 6168963; 2. {Glaucoma, normal tension, susceptibility to} 6066573; 3. Behr syndrome 210000 AR; 4. Optic atrophy 1 165500 AD; 5. Optic atrophy plus syndrome 125250 AD
Publications
- PMID: 30165240
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Mitochondrial Flagship
- Expert Review Green
- OMIM
- 605290
- Clinvar variants
- Variants in OPA1
- Penetrance
- None
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Hereditary Neuropathy - complex
- Gastrointestinal neuromuscular disease
- Optic Atrophy
- BabyScreen+ newborn screening
- Mitochondrial disease
- Congenital ophthalmoplegia
- Auditory Neuropathy
- Muscular dystrophy and myopathy_Paediatric
- Regression
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Ataxia - paediatric
History Filter Activity
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: OPA1 was added gene: OPA1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: OPA1 was set to Unknown