IMPG1 Chromosome 6
Interphotoreceptor matrix proteoglycan 1
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What This Gene Does
This gene encodes a protein that is a major component of the retinal interphotoreceptor matrix. The encoded protein is a proteoglycan that is thought to play a role in maintaining viability of photoreceptor cells and in adhesion of the neural retina to the retinal pigment epithelium. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Associated Conditions (8)
Benign concentric annular macular dystrophy
Retinitis pigmentosa
Retinal dystrophy
Vitelliform macular dystrophy 4
Gastric cancer
IMPG1-related disorder
Vitelliform macular dystrophy 2
Isolated macular dystrophy
Key Variants
RS1051579797
Conflicting classifications of pathogenicity
Benign concentric annular macular dystrophy, Retinitis pigmentosa, Benign concentric annular macular dystrophy
Health Risk
RS112474181
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS117784577
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS141169671
Conflicting classifications of pathogenicity
Health Risk
RS147614663
Conflicting classifications of pathogenicity
Benign concentric annular macular dystrophy, Vitelliform macular dystrophy 4, Benign concentric annular macular dystrophy
Health Risk
RS148845802
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS1782008883
Conflicting classifications of pathogenicity
Benign concentric annular macular dystrophy, Benign concentric annular macular dystrophy
Health Risk
RS184144177
Conflicting classifications of pathogenicity
Gastric cancer, Gastric cancer
Health Risk
RS201003227
Conflicting classifications of pathogenicity
Health Risk
RS201558857
Conflicting classifications of pathogenicity
Health Risk
RS201728664
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS368049446
Conflicting classifications of pathogenicity
Health Risk
All Variants (81)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1782005506 | Health Risk | Pathogenic | — |
| RS1782020453 | Health Risk | Pathogenic | — |
| RS1783077289 | Health Risk | Pathogenic | — |
| RS1783079545 | Health Risk | Pathogenic | Vitelliform macular dystrophy 4, Vitelliform macular dystrophy 4 |
| RS1783443333 | Health Risk | Pathogenic | — |
| RS1783698601 | Health Risk | Pathogenic | — |
| RS1783708272 | Health Risk | Pathogenic | — |
| RS1783854370 | Health Risk | Pathogenic | — |
| RS2149457526 | Health Risk | Pathogenic | — |
| RS2149482319 | Health Risk | Pathogenic | Vitelliform macular dystrophy 4, Retinal dystrophy, Vitelliform macular dystrophy 4 |
| RS2149482320 | Health Risk | Pathogenic | — |
| RS2481589248 | Health Risk | Pathogenic | — |
| RS2535897568 | Health Risk | Pathogenic | — |
| RS2535897640 | Health Risk | Pathogenic | — |
| RS2535897761 | Health Risk | Pathogenic | — |
| RS367576664 | Health Risk | Pathogenic | Vitelliform macular dystrophy 4, IMPG1-related disorder, Vitelliform macular dystrophy 4 |
| RS565336088 | Health Risk | Pathogenic | — |
| RS713993046 | Health Risk | Pathogenic | Vitelliform macular dystrophy 4, Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 4 |
| RS745936741 | Health Risk | Pathogenic | — |
| RS753636102 | Health Risk | Pathogenic | — |
| RS760632047 | Health Risk | Pathogenic | — |
| RS761247695 | Health Risk | Pathogenic | — |
| RS767400155 | Health Risk | Pathogenic | — |
| RS768219294 | Health Risk | Pathogenic | — |
| RS768262862 | Health Risk | Pathogenic | — |
| RS778553127 | Health Risk | Pathogenic | — |
| RS868584856 | Health Risk | Pathogenic | — |
| RS1433546528 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS200651043 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS373792616 | Health Risk | Pathogenic/Likely pathogenic | Isolated macular dystrophy, Retinal dystrophy, Isolated macular dystrophy |
| RS775770292 | Health Risk | Pathogenic/Likely pathogenic | Vitelliform macular dystrophy 4, Benign concentric annular macular dystrophy, Vitelliform macular dystrophy 4 |