Retinal disorders
Gene: GRK1

GRK1 (G protein-coupled receptor kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000185974
EnsemblGeneIds (GRCh37): ENSG00000185974
OMIM: 180381, Gene2Phenotype
GRK1 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

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oguchi disease-2

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

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

Panel version: 1.14

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Reviewed internally and promoted to green due to evidence provided in OMIM.
Created: 7 Jun 2016, 11:57 a.m.

This gene was removed from the Manchester Genetic Retinal Degeneration Conditions panel due to technical/alignment issues.
Created: 2 Jun 2016, 8:04 a.m.

Created: 2 Jun 2016, 8:04 a.m.

Panel version: 0.201

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Oguchi disease-2, 613411

OMIM

180381

Clinvar variants

Variants in GRK1

Penetrance

Complete

Panels with this gene

Retinal disorders

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GRK1. Rating Changed from Green List (high evidence) to Green List (high evidence)

7 Jun 2016, Gel status: 4