Structural eye disease
Gene: GRM6

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

2 reviews

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

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Night blindness, congenital stationary (complete), 1B, autosomal recessive; 257270

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). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270

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

Panel version: 0.38

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270
Eye Disorders

OMIM

604096

Clinvar variants

Variants in GRM6

Penetrance

None

Panels with this gene

History Filter Activity

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 GRM6. Mode of inheritance for gene GRM6 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 for gene: GRM6

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: GRM6 was added gene: GRM6 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: GRM6 was set to Phenotypes for gene: GRM6 were set to Eye Disorders

Structural eye disease Gene: GRM6