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Retinal disorders

Gene: GRM6

Green List (high evidence)

GRM6 (glutamate metabotropic receptor 6)
EnsemblGeneIds (GRCh38): ENSG00000113262
EnsemblGeneIds (GRCh37): ENSG00000113262
OMIM: 604096, Gene2Phenotype
GRM6 is in 7 panels

3 reviews

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

Green List (high evidence)

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Night blindness; congenital stationary; type 1B

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

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.
Andrew Webster rated this gene green on the Rod Dysfunction Syndrome gene panel: "Causes ON-bipolar cell dysfunction (complete CSNB), with similar phenotype to NYX, TRPM1, GPR179 and LRIT3" Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal. Phenotypes: complete congenital stationary night blindness. Publications: 24715752; 23714322; 22008250; 17405131; 16622103; 15781871. Review made: Panel Version: 0, Oct. 19, 2015, 10:39 a.m.

Created: 26 Apr 2016, 12:41 p.m.


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • Congenital Stationary Night Blindness
  • Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270
Clinvar variants
Variants in GRM6
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 GRM6. 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).

22 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for GRM6 was changed to BIALLELIC, autosomal or pseudoautosomal

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

GRM6 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0


Ellen McDonagh (Genomics England Curator)

GRM6 was created by ellenmcdonagh