IMPG2 Chromosome 3

Interphotoreceptor matrix proteoglycan 2
158 variants 158 Health Risk

Upload your DNA to see your personal genotypes for variants in IMPG2.

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
RS1410860026 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1553681348 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1553687058 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1559642470 Health Risk Likely pathogenic Vitelliform macular dystrophy 5, Vitelliform macular dystrophy 5
RS1706422873 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1706423758 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1706473340 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1706568274 Health Risk Likely pathogenic —
RS1706627397 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1706733354 Health Risk Likely pathogenic —
RS1706755871 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1706843510 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1707165087 Health Risk Likely pathogenic —
RS2107126517 Health Risk Likely pathogenic —
RS2107207834 Health Risk Likely pathogenic —
RS2107222436 Health Risk Likely pathogenic —
RS2107234582 Health Risk Likely pathogenic —
RS2508918698 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2508925531 Health Risk Likely pathogenic Vitelliform macular dystrophy 5, Retinal dystrophy, Vitelliform macular dystrophy 5
RS2508986019 Health Risk Likely pathogenic —
RS2508989619 Health Risk Likely pathogenic —
RS2509022419 Health Risk Likely pathogenic —
RS2509043231 Health Risk Likely pathogenic Vitelliform macular dystrophy 3, Vitelliform macular dystrophy 3
RS2509062269 Health Risk Likely pathogenic —
RS2509062717 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS713993049 Health Risk Likely pathogenic Vitelliform macular dystrophy 5, Retinal dystrophy, Vitelliform macular dystrophy 5
RS746003280 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS766305807 Health Risk Likely pathogenic Vitelliform macular dystrophy 5, Vitelliform macular dystrophy 5
RS770339774 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS770399625 Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 56, Retinal dystrophy
RS771246451 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS886057685 Health Risk Likely pathogenic —
RS1172733048 Health Risk Pathogenic Retinitis pigmentosa 56, Retinitis pigmentosa 56
RS1197126131 Health Risk Pathogenic Retinitis pigmentosa 56, Retinitis pigmentosa 56
RS1229588861 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1260931426 Health Risk Pathogenic —
RS1263954282 Health Risk Pathogenic —
RS138793555 Health Risk Pathogenic IMPG2-related disorder, IMPG2-related disorder
RS1553681433 Health Risk Pathogenic Retinitis pigmentosa 56, Retinitis pigmentosa 56
RS1553681434 Health Risk Pathogenic —
RS1553687118 Health Risk Pathogenic Retinitis pigmentosa 56, Retinitis pigmentosa 56
RS1706261533 Health Risk Pathogenic —
RS1706423187 Health Risk Pathogenic —
RS1706425812 Health Risk Pathogenic —
RS1706436657 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 56, Retinal dystrophy
RS1706436727 Health Risk Pathogenic —
RS1706441535 Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Vitelliform macular dystrophy 5, Autosomal recessive retinitis pigmentosa
RS1706448011 Health Risk Pathogenic —
RS1706454284 Health Risk Pathogenic —
RS1706456124 Health Risk Pathogenic Vitelliform macular dystrophy 5, Vitelliform macular dystrophy 5
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