RS1 Chromosome X
Retinoschisin 1
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What This Gene Does
This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision. [provided by RefSeq, Oct 2008]
Associated Conditions (14)
Inborn genetic diseases
Juvenile retinoschisis
Retinal dystrophy
Retinoschisis
Nonpapillary renal cell carcinoma
RS1-related disorder
Retinal disorder
Thyroid cancer
nonmedullary
1
Macular schisis
Peripheral schisis
Developmental and epileptic encephalopathy
2
Key Variants
RS1338396929
Conflicting classifications of pathogenicity
Health Risk
RS144049906
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2518916750
Conflicting classifications of pathogenicity
Health Risk
RS61752069
Conflicting classifications of pathogenicity
Juvenile retinoschisis, Juvenile retinoschisis
Health Risk
RS61752152
Conflicting classifications of pathogenicity
Health Risk
RS61753164
Conflicting classifications of pathogenicity
Retinal dystrophy, Juvenile retinoschisis, Retinal dystrophy
Health Risk
RS62645892
Conflicting classifications of pathogenicity
Health Risk
RS104894929
Likely pathogenic
Juvenile retinoschisis, Juvenile retinoschisis, Juvenile retinoschisis
Health Risk
RS140983930
Likely pathogenic
Juvenile retinoschisis, Juvenile retinoschisis
Health Risk
RS1464991419
Likely pathogenic
Juvenile retinoschisis, Juvenile retinoschisis
Health Risk
RS1555959367
Likely pathogenic
Juvenile retinoschisis, Juvenile retinoschisis
Health Risk
RS1602308821
Likely pathogenic
Retinoschisis, Retinoschisis
Health Risk
All Variants (170)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS62645886 | Health Risk | Pathogenic | — |
| RS62645889 | Health Risk | Pathogenic | Retinal dystrophy, Juvenile retinoschisis, Juvenile retinoschisis |
| RS62645895 | Health Risk | Pathogenic | Juvenile retinoschisis, Juvenile retinoschisis |
| RS62645900 | Health Risk | Pathogenic | — |
| RS886041235 | Health Risk | Pathogenic | Juvenile retinoschisis, Juvenile retinoschisis |
| RS104894928 | Health Risk | Pathogenic/Likely pathogenic | Juvenile retinoschisis, Retinal dystrophy, Inborn genetic diseases |
| RS104894930 | Health Risk | Pathogenic/Likely pathogenic | Juvenile retinoschisis, Retinoschisis, Retinal dystrophy |
| RS1131691380 | Health Risk | Pathogenic/Likely pathogenic | Juvenile retinoschisis, Juvenile retinoschisis |
| RS1386256334 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS200866925 | Health Risk | Pathogenic/Likely pathogenic | Juvenile retinoschisis, Juvenile retinoschisis |
| RS2147189125 | Health Risk | Pathogenic/Likely pathogenic | Juvenile retinoschisis, Thyroid cancer, nonmedullary |
| RS2147191205 | Health Risk | Pathogenic/Likely pathogenic | Juvenile retinoschisis, Juvenile retinoschisis |
| RS2147194234 | Health Risk | Pathogenic/Likely pathogenic | Juvenile retinoschisis, Juvenile retinoschisis |
| RS2518919549 | Health Risk | Pathogenic/Likely pathogenic | Juvenile retinoschisis, Juvenile retinoschisis |
| RS2518919972 | Health Risk | Pathogenic/Likely pathogenic | Juvenile retinoschisis, Retinal dystrophy, Juvenile retinoschisis |
| RS281865343 | Health Risk | Pathogenic/Likely pathogenic | Juvenile retinoschisis, Juvenile retinoschisis |
| RS281865351 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS281865357 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Juvenile retinoschisis, Retinal dystrophy |
| RS61752147 | Health Risk | Pathogenic/Likely pathogenic | Juvenile retinoschisis, Juvenile retinoschisis |
| RS760405772 | Health Risk | Pathogenic/Likely pathogenic | Juvenile retinoschisis, Juvenile retinoschisis |