Disorder "Retinitis Pigmentosa"
Found 6 records
Disorder information
Disorder name:
Retinitis Pigmentosa
Disoder ID:
OMIM entry:
Synonyms:
pericentral pigmentary retinopathy
Definition:
X-linked retinitis pigmentosa (XLRP) is and inherited condition caused by mutations in the RPGR gene. XLRP causes progressive vision loss in boys and young men. The condition begins with night blindness and is followed by progressive constriction of the field of vision. XLRP often results in total blindness and there is no specific treatment for this condition
Modifier statisitcs
Record:
6
Gene:
5
Variant:
6
Reference:
2
Effect type:
Expressivity(5)
,Penetrance(1)
Modifier effect:
Altered severity(4)
,Altered incidence(1)
,Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| RPGRIP1L | RPGRIP1L:c.2231G>A(p.Arg744Gln) | Expressivity | Altered severity | P=0.0493 | association with disease severitymore | more |
| RPGRIP1 | RPGRIP1:c.3097G>C(p.Glu1033Gln) | Expressivity | Altered severity | P=0.0455 | association with disease severitymore | more |
| RPGRIP1:c.574A>G(p.Lys192Glu) | Expressivity | Altered severity | P=0.0358 | association with disease severitymore | more | |
| RP1 | RP1:c.2615G>A(p.Arg872His) | Penetrance | Altered incidence | Assessment of genotype–phenotype associations | R872H in the RP1 gene was likely to be a protective factor for RPmore | more |
| RHO | RHO:c.-26G>A | Expressivity | Risk factor | Assessment of genotype–phenotype associations | -26G> A, was found to increase the risk of RPmore | more |
| IQCB1 | IQCB1:c.1178T>A(p.Ile393Asn) | Expressivity | Altered severity | P=0.044 | association with disease severitymore | more |
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