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transport 88","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29978320[PMID]","hgnc":"20606","ensembl":"ENSG00000032742","omim":"600595","loci":["13q12.11"]},{"symbol":"IMPDH1","name":"inosine monophosphate dehydrogenase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301590[PMID]","hgnc":"6052","ensembl":"ENSG00000106348","omim":"146690","loci":["7q32.1"]},{"symbol":"IMPG1","name":"interphotoreceptor matrix proteoglycan 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32817297[PMID]","hgnc":"6055","ensembl":"ENSG00000112706","omim":"602870","loci":["6q14.1"]},{"symbol":"IMPG2","name":"interphotoreceptor matrix proteoglycan 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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31","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301590[PMID]","hgnc":"15446","ensembl":"ENSG00000105618","omim":"606419","loci":["19q13.42"]},{"symbol":"PRPF6","name":"pre-mRNA processing factor 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301590[PMID]","hgnc":"15860","ensembl":"ENSG00000101161","omim":"613979","loci":["20q13.33"]},{"symbol":"PRPF8","name":"pre-mRNA processing factor 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301590[PMID]","hgnc":"17340","ensembl":"ENSG00000174231","omim":"607300","loci":["17p13.3"]},{"symbol":"PRPH2","name":"peripherin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"41513982[PMID]","hgnc":"10227","ensembl":null,"omim":null,"loci":["15q23"]},{"symbol":"RNU6-2","name":"RNA, U6 small nuclear 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"41513982[PMID]","hgnc":"34270","ensembl":null,"omim":null,"loci":["19p13.3"]},{"symbol":"RNU6-8","name":"RNA, U6 small nuclear 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"41513982[PMID]","hgnc":"34285","ensembl":null,"omim":null,"loci":["14q12"]},{"symbol":"RNU6-9","name":"RNA, U6 small nuclear 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"41513982[PMID]","hgnc":"34269","ensembl":null,"omim":null,"loci":["19p13.3"]},{"symbol":"ROM1","name":"retinal outer segment membrane protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301590[PMID]","hgnc":"10254","ensembl":"ENSG00000149489","omim":"180721","loci":["11q12.3"]},{"symbol":"RP1","name":"RP1 axonemal microtubule associated","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301590[PMID]","hgnc":"10263","ensembl":"ENSG00000104237","omim":"603937","loci":["8q11.23-q12.1"]},{"symbol":"RP1L1","name":"RP1 like 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31833436[PMID]","hgnc":"15946","ensembl":"ENSG00000183638","omim":"608581","loci":["8p23.1"]},{"symbol":"RP2","name":"RP2 activator of ARL3 GTPase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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States","status":"Validated","source":"6702974[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":30.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2018[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":26.7,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":25.4,"area":"Denmark","status":"Validated","source":"11921605[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":22.5,"area":"Norway","status":"Validated","source":"3594933[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.5,"area":"United Kingdom","status":"Validated","source":"6512829[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":26.4,"area":"China","status":"Validated","source":"3500313[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":16.7,"area":"Slovenia","status":"Validated","source":"1395082[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":11.09,"area":"Korea, Republic of","status":"Validated","source":"28130043[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-09-20","source":"20301590[PMID]_30578498[PMID]_29597005[PMID]_29391772[PMID]_35015458[PMID]","terms":[{"hpo":"HP:0000512","label":"Abnormal electroretinogram","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008046","label":"Abnormal retinal vascular morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007737","label":"Bone spicule pigmentation of the retina","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007675","label":"Progressive night blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000546","label":"Retinal degeneration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030488","label":"Abnormal central response of multifocal electroretinogram","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030466","label":"Abnormal full-field electroretinogram","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007843","label":"Attenuation of retinal blood vessels","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011505","label":"Cystoid macular edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000563","label":"Keratoconus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012426","label":"Optic disc drusen","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007994","label":"Peripheral visual field loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030610","label":"Photoreceptor outer segment loss on macular OCT","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007787","label":"Posterior subcapsular cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001105","label":"Retinal atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000551","label":"Color vision defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030786","label":"Photopsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null}]}}