Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 28-11-2009

Symbol	RP50
Location	11q12.3
Name	retinitis pigmentosa 50
Corresponding gene	BEST1
Main clinical features	slow progressing retinopathy retinal fundus image and full-field electroretinogram (ERG) demonstrate a late-onset RP with mild and slower than usual progression of disease severe bilateral serous retinal detachments
Genetic determination	autosomal dominant
Function/system disorder	eye
Type	disease

Remark(s)

mutations all lie within the predicted cytoplasmic loop between transmembrane domains 2 and 3 (PMID: 19853238))