PCARE Chromosome 2
Photoreceptor cilium actin regulator
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What This Gene Does
The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010]
Associated Conditions (14)
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 54
PCARE-related disorder
Optic atrophy
Inborn genetic diseases
Cone-rod dystrophy
PCARE-related retinopathy
Cone-rod dystrophy 23
Autosomal recessive retinitis pigmentosa
Stargardt disease
See cases
Retinal disorder
Retinitis pigmentosa with macular involvement
Key Variants
RS114274497
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS140625913
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS140790266
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS1420546201
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinitis pigmentosa 54, Retinal dystrophy
Health Risk
RS146455733
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS149601594
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa 54, Retinitis pigmentosa
Health Risk
RS149915190
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
Health Risk
RS181545106
Conflicting classifications of pathogenicity
Health Risk
RS182248363
Conflicting classifications of pathogenicity
Retinitis pigmentosa 54, Retinitis pigmentosa, PCARE-related disorder
Health Risk
RS182812191
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
Health Risk
RS183536545
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS184249075
Conflicting classifications of pathogenicity
Retinitis pigmentosa, PCARE-related disorder, Retinal dystrophy
Health Risk
All Variants (190)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553354488 | Health Risk | Pathogenic | — |
| RS1553354826 | Health Risk | Pathogenic | Retinitis pigmentosa 54, Retinitis pigmentosa 54 |
| RS1558488002 | Health Risk | Pathogenic | — |
| RS1572825920 | Health Risk | Pathogenic | Retinal dystrophy, Retinitis pigmentosa 54, Retinal dystrophy |
| RS1572829514 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1572829866 | Health Risk | Pathogenic | Cone-rod dystrophy, PCARE-related retinopathy, Cone-rod dystrophy |
| RS1667472659 | Health Risk | Pathogenic | — |
| RS1667483876 | Health Risk | Pathogenic | Retinitis pigmentosa 54, Retinitis pigmentosa 54 |
| RS1667492589 | Health Risk | Pathogenic | — |
| RS1667502644 | Health Risk | Pathogenic | — |
| RS1667504686 | Health Risk | Pathogenic | — |
| RS1667508280 | Health Risk | Pathogenic | Cone-rod dystrophy, Cone-rod dystrophy 23, Cone-rod dystrophy |
| RS1667510314 | Health Risk | Pathogenic | — |
| RS1667513233 | Health Risk | Pathogenic | Retinitis pigmentosa 54, Retinal dystrophy, Retinitis pigmentosa 54 |
| RS1667514184 | Health Risk | Pathogenic | — |
| RS1667514457 | Health Risk | Pathogenic | — |
| RS1667517587 | Health Risk | Pathogenic | Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa |
| RS1667521303 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa 54, Retinitis pigmentosa |
| RS1667524759 | Health Risk | Pathogenic | — |
| RS1667533636 | Health Risk | Pathogenic | — |
| RS2148414753 | Health Risk | Pathogenic | — |
| RS2148414919 | Health Risk | Pathogenic | — |
| RS2148415202 | Health Risk | Pathogenic | — |
| RS2148415381 | Health Risk | Pathogenic | — |
| RS2148415455 | Health Risk | Pathogenic | — |
| RS2148415467 | Health Risk | Pathogenic | — |
| RS2148415700 | Health Risk | Pathogenic | — |
| RS2148415744 | Health Risk | Pathogenic | — |
| RS2148416007 | Health Risk | Pathogenic | — |
| RS2148416373 | Health Risk | Pathogenic | — |
| RS2148416461 | Health Risk | Pathogenic | — |
| RS2148416488 | Health Risk | Pathogenic | — |
| RS2148416614 | Health Risk | Pathogenic | — |
| RS2148416620 | Health Risk | Pathogenic | — |
| RS2148416762 | Health Risk | Pathogenic | Retinitis pigmentosa 54, Retinitis pigmentosa 54 |
| RS2148416970 | Health Risk | Pathogenic | — |
| RS2465273048 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2465273458 | Health Risk | Pathogenic | — |
| RS2465274081 | Health Risk | Pathogenic | Cone-rod dystrophy 23, Cone-rod dystrophy 23 |
| RS2465275931 | Health Risk | Pathogenic | Retinitis pigmentosa 54, Retinal dystrophy, Retinitis pigmentosa |
| RS2465276092 | Health Risk | Pathogenic | — |
| RS2465277568 | Health Risk | Pathogenic | — |
| RS2465279042 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2465279561 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2465279577 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2465280012 | Health Risk | Pathogenic | — |
| RS2465280349 | Health Risk | Pathogenic | — |
| RS267606691 | Health Risk | Pathogenic | Retinitis pigmentosa 54, Retinitis pigmentosa, Retinitis pigmentosa 54 |
| RS371289954 | Health Risk | Pathogenic | — |
| RS371669661 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |