Glaucoma (developmental)
Gene: OPA1EnsemblGeneIds (GRCh38): ENSG00000198836
EnsemblGeneIds (GRCh37): ENSG00000198836
OMIM: 605290, Gene2Phenotype
OPA1 is in 17 panels
4 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
optic atrophy but no other evidence of structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Optic atrophy plus syndrome; Optic atrophy 1; Behr syndrome; Glaucoma, normal tension, susceptibility to; ; 125250; 165500; 210000;
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). optic atrophy but no other evidence of structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Optic atrophy plus syndrome, 125250; Optic atrophy 1, 165500; Behr syndrome; Glaucoma, normal tension, susceptibility to, 210000
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Demoted to red from amber, as for glaucoma variants in this gene are associated with susceptibility and are not causative of monogenic disease.Created: 12 Apr 2017, 11:30 a.m.
Chris Campbell (NHS)
Disease associated polymorphismsCreated: 17 Mar 2017, 3:58 p.m.
Phenotypes
Optic atrophy; Susceptibility to normal tension glaucoma
Publications
- 2674
- 9309
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- NHS GMS
- Expert Review Red
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Glaucoma, normal tension, susceptibility to}, OMIM:606657
- OMIM
- 605290
- Clinvar variants
- Variants in OPA1
- Penetrance
- Complete
- Panels with this gene
-
- Monogenic hearing loss
- Mitochondrial DNA maintenance disorder
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Structural eye disease
- Ataxia and cerebellar anomalies - narrow panel
- Optic neuropathy
- Auditory Neuropathy Spectrum Disorde
- Mitochondrial disorders
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy or pain disorder
- Glaucoma (developmental)
- Hereditary neuropathy
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: OPA1 were changed from {Glaucoma, normal tension, susceptibility to} 606657 to {Glaucoma, normal tension, susceptibility to}, OMIM:606657
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for OPA1 were set to {Glaucoma, normal tension, susceptibility to} 606657
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)OPA1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)OPA1 was added to Glaucoma (developmental)panel. Sources: Radboud University Medical Center, Nijmegen