Mitochondrial disorders
Gene: OPA1Comment on phenotypes: Disorders of mitochondrial DNA maintenance and integrity;{Glaucoma, normal tension, susceptibility to}, 606657Created: 28 Apr 2021, 11:08 a.m. | Last Modified: 28 Apr 2021, 11:08 a.m.
Panel Version: 2.34
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 ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) OMIM:616896; mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) MONDO:0014820; Optic atrophy 1 OMIM:165500; autosomal dominant optic atrophy, classic form MONDO:0008134; Optic atrophy plus syndrome OMIM:125250; optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429; Behr syndrome OMIM:210000; Behr syndrome MONDO:0008858 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
Phenotypes for gene: OPA1 were changed from Disorders of mitochondrial DNA maintenance and integrity; Optic atrophy 1, 165500; {Glaucoma, normal tension, susceptibility to}, 606657; Optic atrophy plus syndrome, 125250; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Optic atrophy 1, 165500 to ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) OMIM:616896; mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) MONDO:0014820; Optic atrophy 1 OMIM:165500; autosomal dominant optic atrophy, classic form MONDO:0008134; Optic atrophy plus syndrome OMIM:125250; optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429; Behr syndrome OMIM:210000; Behr syndrome MONDO:0008858
Publications for gene: OPA1 were set to
Victorian Clinical Genetics Services was added to OPA1. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for OPA1 were set to Disorders of mitochondrial DNA maintenance and integrity; Optic atrophy 1, 165500; {Glaucoma, normal tension, susceptibility to}, 606657; Optic atrophy plus syndrome, 125250; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Optic atrophy 1, 165500;
Publications for OPA1 were set to
Mode of inheritance for OPA1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
OPA1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list, Expert
OPA1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list, Expert
OPA1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list, Expert
OPA1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list, Expert