Mitochondrial DNA maintenance disorder
Gene: OPA1
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. Gene Symbol submitted: OPA1; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:28 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Optic atrophy 1, 165500; Optic atrophy plus syndrome, 125250
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Sourced from reviewer.Created: 10 Feb 2016, 9:23 a.m.
Comment on list classification: Both reviewers agree this should be promoted from amber.Created: 10 Feb 2016, 9:23 a.m.
Phenotypes for gene: OPA1 were changed from Optic atrophy 1, 165500; Optic atrophy plus syndrome, 125250 to Optic atrophy 1, OMIM:165500; Optic atrophy plus syndrome, OMIM:125250; Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896; Behr syndrome, OMIM:210000
gene: OPA1 was added gene: OPA1 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: OPA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: OPA1 were set to Optic atrophy 1, 165500; Optic atrophy plus syndrome, 125250