NDP Chromosome X
Norrin cystine knot growth factor NDP
Upload your DNA to see your personal genotypes for variants in NDP.
What This Gene Does
This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this gene result in Norrie disease and X-linked exudative vitreoretinopathy. [provided by RefSeq, Feb 2009]
Gene Info
Gene Group
Receptor ligands
Locus Type
gene with protein product
Location
Xp11.3
Ensembl
ENSG00000124479
Associated Conditions (13)
Atrophia bulborum hereditaria
Hearing impairment
Inborn genetic diseases
History of neurodevelopmental disorder
Exudative vitreoretinopathy 2
X-linked
Retinal dystrophy
Persistent hyperplastic primary vitreous
High myopia
Short lingual frenulum
Nystagmus
Retinal detachment
Exudative vitreoretinopathy
Key Variants
RS104894867
Conflicting classifications of pathogenicity
Atrophia bulborum hereditaria, Hearing impairment, Atrophia bulborum hereditaria
Health Risk
RS144031424
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146445684
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149708528
Conflicting classifications of pathogenicity
Health Risk
RS2147209281
Conflicting classifications of pathogenicity
Atrophia bulborum hereditaria, Atrophia bulborum hereditaria
Health Risk
RS73475744
Conflicting classifications of pathogenicity
History of neurodevelopmental disorder, History of neurodevelopmental disorder
Health Risk
RS756474198
Conflicting classifications of pathogenicity
Health Risk
RS1048545964
Likely pathogenic
Health Risk
RS104894868
Likely pathogenic
Atrophia bulborum hereditaria, Exudative vitreoretinopathy 2, X-linked
Health Risk
RS104894870
Likely pathogenic
Atrophia bulborum hereditaria, Atrophia bulborum hereditaria
Health Risk
RS104894880
Likely pathogenic
Atrophia bulborum hereditaria, Retinal dystrophy, Atrophia bulborum hereditaria
Health Risk
RS1057518793
Likely pathogenic
Atrophia bulborum hereditaria, Retinal dystrophy, Atrophia bulborum hereditaria
Health Risk
All Variants (66)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894867 | Health Risk | Conflicting classifications of pathogenicity | Atrophia bulborum hereditaria, Hearing impairment, Atrophia bulborum hereditaria |
| RS144031424 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146445684 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149708528 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2147209281 | Health Risk | Conflicting classifications of pathogenicity | Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS73475744 | Health Risk | Conflicting classifications of pathogenicity | History of neurodevelopmental disorder, History of neurodevelopmental disorder |
| RS756474198 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1048545964 | Health Risk | Likely pathogenic | — |
| RS104894868 | Health Risk | Likely pathogenic | Atrophia bulborum hereditaria, Exudative vitreoretinopathy 2, X-linked |
| RS104894870 | Health Risk | Likely pathogenic | Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS104894880 | Health Risk | Likely pathogenic | Atrophia bulborum hereditaria, Retinal dystrophy, Atrophia bulborum hereditaria |
| RS1057518793 | Health Risk | Likely pathogenic | Atrophia bulborum hereditaria, Retinal dystrophy, Atrophia bulborum hereditaria |
| RS1057518836 | Health Risk | Likely pathogenic | Persistent hyperplastic primary vitreous, High myopia, Short lingual frenulum |
| RS1057520333 | Health Risk | Likely pathogenic | — |
| RS1235711153 | Health Risk | Likely pathogenic | Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS1460859456 | Health Risk | Likely pathogenic | Exudative vitreoretinopathy 2, X-linked, Exudative vitreoretinopathy 2 |
| RS1555976049 | Health Risk | Likely pathogenic | Retinal detachment, Retinal detachment |
| RS2035749589 | Health Risk | Likely pathogenic | — |
| RS2035749634 | Health Risk | Likely pathogenic | — |
| RS2147204677 | Health Risk | Likely pathogenic | Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS2147204705 | Health Risk | Likely pathogenic | — |
| RS2147204715 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2147204736 | Health Risk | Likely pathogenic | — |
| RS2147204771 | Health Risk | Likely pathogenic | — |
| RS2147204801 | Health Risk | Likely pathogenic | Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS2519314807 | Health Risk | Likely pathogenic | — |
| RS2519320436 | Health Risk | Likely pathogenic | — |
| RS2519320479 | Health Risk | Likely pathogenic | Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS2519320503 | Health Risk | Likely pathogenic | — |
| RS104894869 | Health Risk | Pathogenic | Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS104894871 | Health Risk | Pathogenic | Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS104894872 | Health Risk | Pathogenic | Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS104894873 | Health Risk | Pathogenic | Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS104894874 | Health Risk | Pathogenic | Exudative vitreoretinopathy, X-linked, Atrophia bulborum hereditaria |
| RS104894875 | Health Risk | Pathogenic | Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS104894876 | Health Risk | Pathogenic | Exudative vitreoretinopathy 2, X-linked, Exudative vitreoretinopathy 2 |
| RS104894877 | Health Risk | Pathogenic | Atrophia bulborum hereditaria, Retinal dystrophy, Atrophia bulborum hereditaria |
| RS104894879 | Health Risk | Pathogenic | Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS104894882 | Health Risk | Pathogenic | Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS104894883 | Health Risk | Pathogenic | Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS137852220 | Health Risk | Pathogenic | Exudative vitreoretinopathy 2, X-linked, Exudative vitreoretinopathy 2 |
| RS137852221 | Health Risk | Pathogenic | Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS1555976084 | Health Risk | Pathogenic | — |
| RS200594881 | Health Risk | Pathogenic | Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS2147204853 | Health Risk | Pathogenic | Exudative vitreoretinopathy 2, X-linked, Exudative vitreoretinopathy 2 |
| RS2147204856 | Health Risk | Pathogenic | — |
| RS2147209204 | Health Risk | Pathogenic | Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS2147209236 | Health Risk | Pathogenic | — |
| RS2519314854 | Health Risk | Pathogenic | — |
| RS2519314892 | Health Risk | Pathogenic | — |