The OPA1 gene homepage
A database from the MITOchondrial DYNamics variation portal "Mitodyn.org".
This database is also one of the "Eye disease" gene variant databases.
| General information |
| Gene symbol |
OPA1 |
| Gene name |
optic atrophy 1 (autosomal dominant) |
| Chromosome |
3 |
| Chromosomal band |
q28-q29 |
| Imprinted |
Not imprinted |
| Genomic reference |
LRG_337 |
| Transcript reference |
NM_015560.2, NM_130837.2 |
| Exon/intron information |
NM_015560.2 exon/intron table, NM_130837.2 exon/intron table |
| Associated with diseases |
BEHRS, MTDPS14, neuropathy, optic, NTG, OPA, OPA+, OPA1 |
| Citation reference(s) |
Journal: Ferré 2005, Journal: Ferré 2015, Journal: Le Roux 2019 |
| Refseq URL |
Genomic reference sequence |
| Curators (1) |
Marc Ferre |
| Total number of public variants reported |
1226 |
| Unique public DNA variants reported |
696 |
| Individuals with public variants |
1546 |
| Hidden variants |
8 |
| Download all this gene's data |
Download all data |
| Notes |
Mutations in the optic atrophy 1 gene (OPA1; MIM# 605290) are responsible for about 60-80% of the cases of autosomal dominant optic atrophy (DOA, Kjer type; MIM# 165500; characterized by moderate to severe loss of visual acuity, blue-yellow dyschromatopsia and central scotoma). The spectrum of OPA1-related disorders is highly variable. The age of onset varies from birth to over 60 years, and the severity of the visual loss ranges from subclinical loss to severe blindness. Extra ocular features, involving the central, peripheral and autonomous nervous systems, complicating the optic neuropathy are reported in about 20% of the patients carrying OPA1 pathogenic variants, leading to conditions described as the "DOA plus" or "DOA+" syndromes (MIM# 125250). A phenotype fully compatible with the Behr syndrome (MIM# 210000), associating early onset and severe optic neuropathy with spinocerebellar ataxia and retarded development was also reported.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland. |
| Date created |
November 13, 2003 |
| Date last updated |
November 17, 2022 |
| Version |
OPA1:221117 |
Active transcripts
| Copyright & disclaimer |
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2003-2022. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.
We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided. |
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