Muscular dystrophy and myopathy_Paediatric

Gene: OPA1

Red List (low evidence)

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single case with centronuclear myopathy
Sources: Literature
Created: 1 Aug 2024, 1:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital myopathy MONDO:0019952

Publications

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

History Filter Activity

1 Aug 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: opa1 has been classified as Red List (Low Evidence).

1 Aug 2024, 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 Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: OPA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OPA1 were set to 38982518 Phenotypes for gene: OPA1 were set to congenital myopathy MONDO:0019952 Review for gene: OPA1 was set to RED