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Hearing loss

Gene: OPA1

Green List (high evidence)

OPA1 (OPA1, mitochondrial dynamin like GTPase)
EnsemblGeneIds (GRCh38): ENSG00000198836
EnsemblGeneIds (GRCh37): ENSG00000198836
OMIM: 605290, Gene2Phenotype
OPA1 is in 14 panels

3 reviews

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

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 expert
Created: 1 Feb 2016, 5:02 p.m.

History Filter Activity

17 Feb 2016, Gel status: 4

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}

17 Feb 2016, Gel status: 4

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

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for OPA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

OPA1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen