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Retinal disorders

Gene: GPR179

Green List (high evidence)
GPR179 (G protein-coupled receptor 179)
EnsemblGeneIds (GRCh38): ENSG00000277399
EnsemblGeneIds (GRCh37): ENSG00000188888
OMIM: 614515, Gene2Phenotype
GPR179 is in 4 panels

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
Autosomal-Recessive Complete Congenital Stationary Night Blindness

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)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:04 a.m.
Review from Andrew Webster (Moorfields Eye Hospital) on the Rod Dysfunction Syndrome gene panel:
"One of the five proven causes of ON-bipolar cell dysfunction (synonym = complete CSNB). Others : NYX, TRPM1, GRM6, LRIT3"
Gene rating: Green List (high evidence)
Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phenotypes: complete congenital stationary night blindness
Publications: 24715752; 23714322; 22325362; 22325361
Review made: Panel Version: 0
Created: 18 Apr 2016, 12:59 p.m.
Created: 18 Apr 2016, 12:57 p.m.

Panel version: 0.160

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Congenital Stationary Night Blindness
  • Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565
OMIM
614515
Clinvar variants
Variants in GPR179
Penetrance
Complete
Panels with this gene

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 GPR179. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

GPR179 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GPR179 was created by ellenmcdonagh