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  3. OPTN
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Structural eye disease

Gene: OPTN

Red List (low evidence)
OPTN (optineurin)
EnsemblGeneIds (GRCh38): ENSG00000123240
EnsemblGeneIds (GRCh37): ENSG00000123240
OMIM: 602432, Gene2Phenotype
OPTN is in 4 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

glaucoma gene, can't find any evidence that it is associated with structural eye disease. Glaucoma seems adult-onset
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glaucoma 1, open angle, E; 137760

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). glaucoma gene, can't find any evidence that it is associated with structural eye disease. Glaucoma seems adult-onset
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glaucoma 1, open angle, E, 137760

Publications

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Glaucoma 1, open angle, E, OMIM:137760
  • {Glaucoma, normal tension, susceptibility to}, OMIM:606657
  • Adult-onset
OMIM
602432
Clinvar variants
Variants in OPTN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2024, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: OPTN were changed from Glaucoma 1, open angle, E, 137760; {Glaucoma, normal tension, susceptibility to} 606657 to Glaucoma 1, open angle, E, OMIM:137760; {Glaucoma, normal tension, susceptibility to}, OMIM:606657; Adult-onset

17 Apr 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: OPTN were changed from Glaucoma 1, open angle, E, 137760; Glaucoma 1, open angle, E 137760; {Glaucoma, normal tension, susceptibility to} 606657 to Glaucoma 1, open angle, E, 137760; {Glaucoma, normal tension, susceptibility to} 606657

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to OPTN. Mode of inheritance for gene OPTN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Glaucoma 1, open angle, E, 137760 for gene: OPTN

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: OPTN was added gene: OPTN was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: OPTN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: OPTN were set to 11834836 Phenotypes for gene: OPTN were set to Glaucoma 1, open angle, E 137760; {Glaucoma, normal tension, susceptibility to} 606657