Aminoacidopathy

Gene: GRM6

Green List (high evidence)

GRM6 (glutamate metabotropic receptor 6)
EnsemblGeneIds (GRCh38): ENSG00000113262
EnsemblGeneIds (GRCh37): ENSG00000113262
OMIM: 604096, Gene2Phenotype
GRM6 is in 4 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

GRM6-related retinopathy is a glutamate neurotransmitter disorders affecting the ON-centre of the retinal ganglion cells.

>5 unrelated families with a night blindness phenotype due to a defective signal transmission at the ON-centre.
Sources: Other
Created: 19 Jul 2024, 12:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GRM6-related retinopathy MONDO:0800397

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • GRM6-related retinopathy MONDO:0800397
OMIM
604096
Clinvar variants
Variants in GRM6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: grm6 has been classified as Green List (High Evidence).

19 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: grm6 has been classified as Green List (High Evidence).

19 Jul 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: GRM6 was added gene: GRM6 was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: GRM6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRM6 were set to 22008250 Phenotypes for gene: GRM6 were set to GRM6-related retinopathy MONDO:0800397 Review for gene: GRM6 was set to GREEN