MFRP Chromosome 11
Membrane frizzled-related protein
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What This Gene Does
This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013]
Associated Conditions (6)
Isolated microphthalmia 5
Inborn genetic diseases
MFRP-related disorder
Nanophthalmos 2
Retinal dystrophy
Nanophthalmia
Key Variants
RS141109062
Conflicting classifications of pathogenicity
Isolated microphthalmia 5, Isolated microphthalmia 5
Health Risk
RS1950565228
Conflicting classifications of pathogenicity
Isolated microphthalmia 5, Inborn genetic diseases, Isolated microphthalmia 5
Health Risk
RS201021366
Conflicting classifications of pathogenicity
Isolated microphthalmia 5, Inborn genetic diseases, Isolated microphthalmia 5
Health Risk
RS372897338
Conflicting classifications of pathogenicity
Isolated microphthalmia 5, MFRP-related disorder, Isolated microphthalmia 5
Health Risk
RS730882142
Conflicting classifications of pathogenicity
Isolated microphthalmia 5, Isolated microphthalmia 5
Health Risk
RS1245503127
Likely pathogenic
Isolated microphthalmia 5, Isolated microphthalmia 5
Health Risk
RS1357854800
Likely pathogenic
Isolated microphthalmia 5, Isolated microphthalmia 5
Health Risk
RS200251814
Likely pathogenic
Isolated microphthalmia 5, Nanophthalmos 2, Isolated microphthalmia 5
Health Risk
RS2135374862
Likely pathogenic
Isolated microphthalmia 5, Isolated microphthalmia 5
Health Risk
RS749156010
Likely pathogenic
Isolated microphthalmia 5, Isolated microphthalmia 5
Health Risk
RS755272017
Likely pathogenic
Isolated microphthalmia 5, Isolated microphthalmia 5
Health Risk
RS786205472
Likely pathogenic
Isolated microphthalmia 5, Isolated microphthalmia 5
Health Risk
All Variants (55)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1243587288 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Isolated microphthalmia 5, Retinal dystrophy |
| RS1422497202 | Health Risk | Pathogenic/Likely pathogenic | Isolated microphthalmia 5, Isolated microphthalmia 5 |
| RS374823079 | Health Risk | Pathogenic/Likely pathogenic | Nanophthalmia, Isolated microphthalmia 5, Nanophthalmos 2 |
| RS730882143 | Health Risk | Pathogenic/Likely pathogenic | Isolated microphthalmia 5, Nanophthalmos 2, Retinal dystrophy |
| RS986503217 | Health Risk | Pathogenic/Likely pathogenic | Isolated microphthalmia 5, Isolated microphthalmia 5 |