Monogenic hearing loss
Gene: OPA1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#125250:Optic atrophy plus syndrome[Hearing loss, progressive sensorineuralAbsent or decreased auditory brainstem responsesAuditory neuropathy; Optic atrophyDecreased visual acuityBlue-yellow dyschromatopsiaRed-green dyschromatopsiaCentrocecal scotomaCentral scotomaPattern visual evoked potentials show reduced amplitudeStrabismusHorizontal nystagmusPtosisOphthalmoplegia; Myopathy, mildIncreased fiber size variationMitochondrial DNA deletions (in some patients)Ragged red fibers; Ataxia may develop in middle age (less common); Axonal sensorineural polyneuropathy]; #165500:Optic atrophy 1[Optic atrophyTemporal optic nerve pallorDecreased visual acuityBlue-yellow dyschromatopsiaRed-green dyschromatopsiaCentrocecal scotomaCentral scotomaPattern visual evoked potentials show reduced amplitudeStrabismus (10%)Horizontal nystagmus (5%)Histology shows degeneration of retinal ganglion cells]
Comment on list classification: Good evidence from OMIM and expertCreated: 1 Feb 2016, 5:02 p.m.
Phenotypes for gene: OPA1 were changed from #125250:Optic atrophy plus syndrome; #165500:Optic atrophy 1; #606657:{Glaucoma, normal tension, susceptibility to} to Optic atrophy 1, OMIM:165500; Optic atrophy plus syndrome, OMIM:125250
Phenotypes for OPA1 were set to #125250:Optic atrophy plus syndrome; #165500:Optic atrophy 1; #606657:{Glaucoma, normal tension, susceptibility to}
Publications for OPA1 were set to PMID:10547374; 11017079; 11017080; 11440988; 11440989; 11735024; 11810270; 11810296; 12073024; 12509422; 12566046; 14644237; 15297626; 1532158; 15509649; 15531309; 16158427; 16240368; 16323009; 16839885; 17024226; 17188046; 17188070; 17428816; 17722006; 18065439; 18158317; 18195150; 18281461; 19029523; 19181907; 19581274; 20157015; 20185555; 20417568; 20484224; 20974897; 21636302; 24091702; 4058877; 6493699; 9490303; 9628581; 9790976; 9917792
This gene has been classified as Green List (High Evidence).
Mode of inheritance for OPA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
OPA1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen