Congenital nystagmus
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Nystagmus reported.Created: 25 Oct 2021, 4:37 a.m. | Last Modified: 25 Oct 2021, 4:37 a.m.
Panel Version: 0.44
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Night blindness, congenital stationary (complete), 1B, autosomal recessive 257270
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270
- OMIM
- 604096
- Clinvar variants
- Variants in GRM6
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
25 Oct 2021, 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).
25 Oct 2021, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GRM6 were set to
6 Oct 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GRM6 was added gene: GRM6 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GRM6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRM6 were set to Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270