EYS Chromosome 6
EGF-like photoreceptor maintenance factor
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What This Gene Does
The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Associated Conditions (17)
Retinal dystrophy
Retinitis pigmentosa 25
Retinitis pigmentosa
Inborn genetic diseases
Autosomal recessive retinitis pigmentosa
EYS-related disorder
Sarcoma
Hepatocellular carcinoma
Optic atrophy
Cone-rod dystrophy
EYS-related retinopathy
Retinal disorder
Macular dystrophy
Colon adenocarcinoma
Central areolar choroidal dystrophy
Retinitis punctata albescens
Abnormality of the eye
Key Variants
RS1004373312
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS1004559050
Conflicting classifications of pathogenicity
Retinitis pigmentosa 25, Retinitis pigmentosa 25
Health Risk
RS1011193191
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS1015857165
Conflicting classifications of pathogenicity
Retinitis pigmentosa 25, Retinal dystrophy, Retinitis pigmentosa
Health Risk
RS1044679782
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1055095941
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS1064796021
Conflicting classifications of pathogenicity
Retinitis pigmentosa 25, Retinitis pigmentosa 25
Health Risk
RS1064797324
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS111947397
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa 25, Retinitis pigmentosa
Health Risk
RS111991705
Conflicting classifications of pathogenicity
Retinitis pigmentosa 25, Retinitis pigmentosa, Retinal dystrophy
Health Risk
RS112609906
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa 25
Health Risk
RS112822256
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa 25, Retinal dystrophy
Health Risk
All Variants (1015)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2533013373 | Health Risk | Pathogenic | — |
| RS2533027083 | Health Risk | Pathogenic | — |
| RS2533028203 | Health Risk | Pathogenic | — |
| RS2533028337 | Health Risk | Pathogenic | — |
| RS2533028755 | Health Risk | Pathogenic | — |
| RS2533028837 | Health Risk | Pathogenic | — |
| RS2533028845 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2533029288 | Health Risk | Pathogenic | — |
| RS2533029860 | Health Risk | Pathogenic | — |
| RS2533088297 | Health Risk | Pathogenic | — |
| RS2533088748 | Health Risk | Pathogenic | Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533136436 | Health Risk | Pathogenic | — |
| RS2533144973 | Health Risk | Pathogenic | — |
| RS2533145305 | Health Risk | Pathogenic | — |
| RS2533148777 | Health Risk | Pathogenic | — |
| RS2533149418 | Health Risk | Pathogenic | — |
| RS2533149911 | Health Risk | Pathogenic | — |
| RS2533150447 | Health Risk | Pathogenic | — |
| RS2533150485 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2533150852 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2533151293 | Health Risk | Pathogenic | — |
| RS2533151606 | Health Risk | Pathogenic | — |
| RS2533152129 | Health Risk | Pathogenic | — |
| RS2533152184 | Health Risk | Pathogenic | — |
| RS2533153113 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2533154320 | Health Risk | Pathogenic | — |
| RS2533154338 | Health Risk | Pathogenic | — |
| RS2533154554 | Health Risk | Pathogenic | — |
| RS2533154592 | Health Risk | Pathogenic | Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533154641 | Health Risk | Pathogenic | — |
| RS2533155158 | Health Risk | Pathogenic | — |
| RS2533155638 | Health Risk | Pathogenic | — |
| RS2533155824 | Health Risk | Pathogenic | — |
| RS2533165826 | Health Risk | Pathogenic | — |
| RS2533169049 | Health Risk | Pathogenic | — |
| RS2533203195 | Health Risk | Pathogenic | — |
| RS2533203525 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2533203632 | Health Risk | Pathogenic | — |
| RS2533226453 | Health Risk | Pathogenic | Retinitis pigmentosa 25, Retinal dystrophy, Retinitis pigmentosa 25 |
| RS2533226464 | Health Risk | Pathogenic | — |
| RS2533310146 | Health Risk | Pathogenic | Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533321384 | Health Risk | Pathogenic | — |
| RS2533328947 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2533329613 | Health Risk | Pathogenic | — |
| RS2533329634 | Health Risk | Pathogenic | — |
| RS2533358904 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2533359005 | Health Risk | Pathogenic | — |
| RS2533360206 | Health Risk | Pathogenic | — |
| RS2533367342 | Health Risk | Pathogenic | — |
| RS2533367780 | Health Risk | Pathogenic | — |