Aminoacidopathy
Gene: GRM6
GRM6 (glutamate metabotropic receptor 6)
EnsemblGeneIds (GRCh38): ENSG00000113262
EnsemblGeneIds (GRCh37): ENSG00000113262
OMIM: 604096, Gene2Phenotype
GRM6 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000113262
EnsemblGeneIds (GRCh37): ENSG00000113262
OMIM: 604096, Gene2Phenotype
GRM6 is in 4 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
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: OtherCreated: 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