Rhabdomyolysis and Metabolic Myopathy

Gene: OPA1

Green List (high evidence)

OPA1 (OPA1, mitochondrial dynamin like GTPase)
EnsemblGeneIds (GRCh38): ENSG00000198836
EnsemblGeneIds (GRCh37): ENSG00000198836
OMIM: 605290, Gene2Phenotype
OPA1 is in 17 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

I don't know

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 list
Created: 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)

Green List (high evidence)

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

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

15 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: opa1 has been classified as Green List (High Evidence).

15 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: opa1 has been classified as Green List (High Evidence).

14 Apr 2023, Gel status: 1

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