IMPG2 Chromosome 3
Interphotoreceptor matrix proteoglycan 2
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What This Gene Does
The protein encoded by this gene binds chondroitin sulfate and hyaluronan and is a proteoglycan. The encoded protein plays a role in the organization of the interphotoreceptor matrix and may promote the growth and maintenance of the light-sensitive photoreceptor outer segment. Defects in this gene are a cause of retinitis pigmentosa type 56 and maculopathy, IMPG2-related.[provided by RefSeq, Mar 2011]
Associated Conditions (14)
Retinitis pigmentosa
Inborn genetic diseases
Retinal dystrophy
IMPG2-related disorder
Retinitis pigmentosa 56
Vitelliform macular dystrophy 2
Vitelliform macular dystrophy 5
Macular dystrophy
Vitelliform macular dystrophy 3
Autosomal recessive retinitis pigmentosa
Abnormality of the eye
Bardet-Biedl syndrome
Cone-rod dystrophy
IMPG2-related recessive retinopathy
Key Variants
RS111784356
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS116450347
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS1347287232
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139255481
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, IMPG2-related disorder
Health Risk
RS139496326
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
Health Risk
RS1404077542
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa 56
Health Risk
RS142710242
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
Health Risk
RS145388804
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS148056371
Conflicting classifications of pathogenicity
Retinitis pigmentosa, IMPG2-related disorder, Retinitis pigmentosa
Health Risk
RS149291477
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS1706250496
Conflicting classifications of pathogenicity
Health Risk
RS1706305751
Conflicting classifications of pathogenicity
Retinitis pigmentosa 56, Retinal dystrophy, Retinitis pigmentosa 56
Health Risk
All Variants (158)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2508989693 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy, Cone-rod dystrophy |
| RS2509063453 | Health Risk | Pathogenic/Likely pathogenic | IMPG2-related recessive retinopathy, IMPG2-related recessive retinopathy |
| RS754995805 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS764109533 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinitis pigmentosa 56, Retinal dystrophy |
| RS771980888 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS776740276 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS786205564 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Autosomal recessive retinitis pigmentosa, Vitelliform macular dystrophy 5 |
| RS932467788 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |