Retinal disorders
Gene: OPN1LW

OPN1LW (opsin 1, long wave sensitive)
EnsemblGeneIds (GRCh38): ENSG00000102076
EnsemblGeneIds (GRCh37): ENSG00000102076
OMIM: 300822, Gene2Phenotype
OPN1LW is in 1 panel

3 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from red to green. This gene is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases reported on OMIM; therefore, there is enough evidence to promote this gene to green status.
Created: 29 Aug 2019, 1:29 p.m. | Last Modified: 29 Aug 2019, 1:29 p.m.

Panel Version: 1.153

Created: 29 Aug 2019, 1:29 p.m.
Last Modified: 29 Aug 2019, 1:29 p.m.
Panel version: 1.153

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Blue cone monochromacy; Colorblindness, protan

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jan 2017, 4:30 p.m.

Panel version: 1.14

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
NHS GMS

Phenotypes

Blue cone monochromacy, 303700

OMIM

300822

Clinvar variants

Variants in OPN1LW

Penetrance

Complete

Publications

Panels with this gene

Retinal disorders