Congenital nystagmus
Gene: GRID2EnsemblGeneIds (GRCh38): ENSG00000152208
EnsemblGeneIds (GRCh37): ENSG00000152208
OMIM: 602368, Gene2Phenotype
GRID2 is in 6 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
Nystagmus reported in majority of cases
Sources: LiteratureCreated: 16 May 2022, 2:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 18 MIM#616204
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Spinocerebellar ataxia, autosomal recessive 18 MIM#616204
- OMIM
- 602368
- Clinvar variants
- Variants in GRID2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: grid2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: grid2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)gene: GRID2 was added gene: GRID2 was added to Congenital nystagmus. Sources: Literature Mode of inheritance for gene: GRID2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRID2 were set to 32622959 Phenotypes for gene: GRID2 were set to Spinocerebellar ataxia, autosomal recessive 18 MIM#616204 Review for gene: GRID2 was set to GREEN gene: GRID2 was marked as current diagnostic