Monogenic hearing loss
Gene: OPA1EnsemblGeneIds (GRCh38): ENSG00000198836
EnsemblGeneIds (GRCh37): ENSG00000198836
OMIM: 605290, Gene2Phenotype
OPA1 is in 17 panels
3 reviews
Maria Bitner-Glindzicz (UCL)
Jun Shen (Harvard Medical School)
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]
Damian Smedley (Genomics England Curator)
Comment on list classification: Good evidence from OMIM and expertCreated: 1 Feb 2016, 5:02 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Optic atrophy 1, OMIM:165500
- Optic atrophy plus syndrome, OMIM:125250
- OMIM
- 605290
- Clinvar variants
- Variants in OPA1
- Penetrance
- Complete
- Publications
-
- 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
- Panels with this gene
-
- Mitochondrial DNA maintenance disorder
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Monogenic hearing loss
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Auditory Neuropathy Spectrum Disorde
- Structural eye disease
- Retinal disorders
- Hereditary neuropathy or pain disorder
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorders
- Likely inborn error of metabolism
- Glaucoma (developmental)
- Hereditary neuropathy
- Optic neuropathy
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for OPA1 were set to #125250:Optic atrophy plus syndrome; #165500:Optic atrophy 1; #606657:{Glaucoma, normal tension, susceptibility to}
Set publications
Ellen McDonagh (Genomics England Curator)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
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for OPA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)OPA1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen