Optic neuropathy
Gene: OPA3EnsemblGeneIds (GRCh38): ENSG00000125741
EnsemblGeneIds (GRCh37): ENSG00000125741
OMIM: 606580, Gene2Phenotype
OPA3 is in 23 panels
4 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Autosomal Dominant Optic Atrophy; optic atrophy and cataracts; Optic atrophy 3 with cataract
Publications
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to GreenCreated: 13 Jul 2018, 4:22 p.m.
Comment on mode of inheritance: Added MOI from external expert reviewCreated: 13 Jul 2018, 4:21 p.m.
Panagiotis Sergouniotis (Academic Clinic Fellow)
https://omim.org/entry/606580Created: 1 Jun 2018, 6:07 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
- PMID: 26190011
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Additional families reported in PMID: 25159689, which also reports that optic atrophy can be observed in isolation (from cataracts).Created: 6 Sep 2016, 2:24 p.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Phenotypes
-
- Autosomal Dominant Optic Atrophy
- optic atrophy and cataracts
- Optic atrophy 3 with cataract
- OMIM
- 606580
- Clinvar variants
- Variants in OPA3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Optic neuropathy
- Intellectual disability
- Hyperammonaemia
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Parkinson Disease and Complex Parkinsonism
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- Structural eye disease
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source London North GLH was added to OPA3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: OPA3 were set to 25159689; 26190011
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: OPA3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)13.09.2016: 'Inherited optic neuropathies' was removed as a relevant disorder from the Posterior segment abnormalities gene panel (version 1.9) and this panel was approved to live. It has been internally reviewed and revised based on evidence available for each gene, and was promoted to version 1 to be used for analysis.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for OPA3 were set to Autosomal Dominant Optic Atrophy; optic atrophy and cataracts;Optic atrophy 3 with cataract
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for OPA3 were set to Autosomal Dominant Optic Atrophy;optic atrophy and cataracts
Set publications
Ellen McDonagh (Genomics England Curator)Publications for OPA3 were set to 25159689
Added New Source
Augusto Rendon (Genomics England)OPA3 was added to Inherited optic neuropathiespanel. Sources: Expert
Added New Source
GEL ()OPA3 was added to Inherited optic neuropathies panel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()OPA3 was added to Inherited optic neuropathies panel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()OPA3 was added to Inherited optic neuropathies panel. Sources: Emory Genetics Laboratory