Rhabdomyolysis and Metabolic Myopathy
Gene: OPA1EnsemblGeneIds (GRCh38): ENSG00000198836
EnsemblGeneIds (GRCh37): ENSG00000198836
OMIM: 605290, Gene2Phenotype
OPA1 is in 17 panels
2 reviews
Elena Savva (Victorian Clinical Genetics Services)
PMID: 21112924 - two siblings with gait difficulties due to a moderate spastic
pyramidal syndrome in 2nd decade of life. Diagnosed with Behr syndrome
PMID: 31152339 - 1 patient with weakness for elbow flexion and finger straddling, with reduced complex I, II and IV on muscle biopsy. Normal CK levels. Only visual/hearing impairments reported specifically in childhood. Authors note variants in exons 14-17 are mor frequently associated with ADOA plus
PMID: 26561570 - 1 family (two siblings) with infantile mitochondrial encephalomyopathy,
hypertrophic cardiomyopathy and optic atrophy. Patients were homozygous for a missense variant, inherited from unaffected parents. Reported truncal hypotonia, generalized hypotonia and significant muscle wasting at 2 months old.
PMID: 20157015 - a 1/104 patients reported with ADOA plus with myopathy in childhood. Additional patients also show myopathy but onset trended to be >30 years old.
Summary: paediatric myopathy reported but is a rare presentation
Sources: Expert listCreated: 22 Jun 2020, 12:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Optic atrophy plus syndrome 125250
Publications
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
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Expert list
- Phenotypes
-
- optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429
- OMIM
- 605290
- Clinvar variants
- Variants in OPA1
- Penetrance
- None
- Publications
- 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: opa1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: opa1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: OPA1 was added gene: OPA1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Literature Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OPA1 were set to 30165240; 20301426 Phenotypes for gene: OPA1 were set to optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429