All individuals with variants in gene REEP6

19 entries on 1 page. Showing entries 1 - 19.
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00207589 - - - M - - - - - - - retinal disease - 2 6 Marta de Castro-Miró
00296733 EG76;FamAPatII1 PubMed: Arno 2016 2-generation family, 1 affected, unaffected parents M no - Asia - - - - retinal disease 5y-nyctalopia (HP:0000662), 18y-field constriction (HP:0001133); fundus peripheral retinal atrophy (HP:0200070), vessel attenuation (HP:?), bony spicules (HP:0007737); 20y-ERG photopic responses severely reduced; Goldmann visual fields reduced to 30 degrees with preserved temporal islands, early posterior subcapsular cataract (HP:0007787) 2 1 Johan den Dunnen
00296734 GC18419;FamBPatII8 PubMed: Arno 2016 2-generation family, 3 affected brothers, unaffected parents M yes Sudan - - - - - retinal disease 20y-nyctalopia (HP:0000662), 30y reduced fields (HP:0001123), 40y reduced central vision (HP:0007663); logMAR R 0.3 (20/40), L 0.18 (20/30); refraction r +2.25/-1.25 x 75,L +2.5/-2 x 20; fundus attenuated vessels (HP:?), mid-peripheral retinal pigment epithelial atrophy (HP:0007722), bony spicules (HP:0007737), atrophic patches (HP:0001099), cystoid macular edema (HP:0011505); fields to confrontation 10 degrees, Ishihara 17/17 each eye (HP:0030586), bilateral early cataract (HP:0000518), 48y-anosmia (HP:0000458) 1 3 Johan den Dunnen
00296735 GC20453;FamCPatII1 PubMed: Arno 2016 2-generation family, affected brother/sister, unaffected parents M yes Turkey - - - - - retinal disease 10y-nyctalopia (HP:0000662), 37 reduced central vision (HP:0007663); logMAR R 0.3 (20/40), L 0.3 (20/40); refraction R pseudophakic, L -1.25/-0.75 x180; fundus optic disc pallor (HP:0000543), attenuated vessels (HP:?), mid-peripheral retinal pigment epithelial atrophy (HP:0007722), bony spicules (HP:0007737), atrophic patches (HP:0001099); fields to confrontation less than 10 degrees, Ishihara 17/17 each eye (HP:0030586) 1 2 Johan den Dunnen
00296736 GC20277;FamDPatII5 PubMed: Arno 2016 2-generation family, affected sister/brother, unaffected parents M yes Iran - - - - - retinal disease early childhoody nyctalopia (HP:0000662), gradual field loss (HP:0007987); logMAR R 1.3 (20/400), L 0.9 (20/160); refraction BE pseudophakic when assessed; fundus attenuated vessels (HP:?), mid-peripheral retinal pigment epithelial atrophy (HP:0007722), minimal pigment change (HP:0031605); mid 20s-ERGs undetectable (HP:0000550) (scotopic and photopic); fields to confrontation 10-15 degrees, Ishihara 0/17 each eye (HP:0030586) 1 2 Johan den Dunnen
00296737 GC15672;FamEPatII1 PubMed: Arno 2016 2-generation family, 2 affected brothers, unaffected parents M yes India - - - - - retinal disease 14y-nyctalopia (HP:0000662), late teens fields loss (HP:0001123); logMAR R 0.3 (20/40), L 0.18 (20/30); myopia (HP:0000545); fundus attenuated vessels (HP:?), mid-peripheral retinal pigment epithelial atrophy (HP:0007722), bony spicules (HP:0007737), hyperpigmentation (HP:0011512), cystoid macular edema (HP:0011505); 15y-PERG normal, rod ERG undetectable (HP:0000550), delayed and profoundly reduced cone specific responses, severe rod-cone dystrophy (HP:0000548); fields to confrontation reduced to 30 degrees, early posterior subcapsular cataract (HP:0007787) 1 2 Johan den Dunnen
00296738 Fam1Pat1 PubMed: Veleri 2017 3-generation family, 1 affected, unaffected heterozygous carrier parents M - United States African - - - - retinal disease 8-9y-night and side vision disturbances, 30y-diagnosed retinitis oigmentosa, progressive vision loss; 52y-visual acuities were R 20/400, L 20/40 (no significant refractive errors), intraocular pressures normal (16 mm Hg), minimal cataracts, visual fields restricted to small central island each eye; 73y-visual acuities R 20/400, L motions vision, central island visual field detectable right eye only, funduscopic revealed dense pigmentary abnormalities; no family history 1 1 Johan den Dunnen
00296739 Fam2Pat2 PubMed: Veleri 2017 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes China Han Chinese - - - - retinal disease 46y-typical retinitis pigmentosa, severe visual impairment, visual acuities: HM both eyes), bone spicule-like pigment deposits 1 1 Johan den Dunnen
00296740 CIC03778;FamPatII2 PubMed: Mejecase 2018 3-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F yes France North Africa - - - - retinal disease 26y-night blindness; 30y-diagnosis rod-cone dystrophy, best corrected visual acuity 20/63 both eyes with optimized myopic optical correction (R −6 (−2)0, L −8(−2)0), ERG full field undetectable, severe generalized photoreceptor dysfunction; 40y-catarct surgery both eyes; 55y-BVCA R 20/500, L 20/320, severe dyschromatopsia, bilateral severe visual field constriction 15 degrees at the binocular III4e test, funds coarse pigment migrations, atrophic changes macula, widespread alterations posterior pole and peripheral retina, patchy loss autofluorescence macula, severe thinning outer nuclear layer both eyes, loss hyper reflective outer retinal bands, hyper reflective material present above retinal pigment epithelium/Bruch’s membrane complex 1 3 Johan den Dunnen
00296741 Pat1 PubMed: Lin 2020 3-generation family, 1 affected, unaffected parents M - Cameroon - - - - - retinal disease see paper; ..., 18y-problems night vision 1 1 Johan den Dunnen
00387074 100 PubMed: Jauregui 2020 - M - (United States) white - - - - retinal disease - 1 1 LOVD
00392672 167 PubMed: Ma 2021 - ? - Korea - - - - - retinal disease - 2 1 LOVD
00393989 - PubMed: Fuster-Garcia-2019 - - - - Spanish - - - - retinal disease - 1 1 LOVD
00396647 - PubMed: Numa 2020 - M - Japan Japanese - - - - retinal disease night blindness 2 1 LOVD
00429645 - PubMed: Panneman 2023 - M - - - - - - - RP - 1 1 Daan Panneman
00429845 - PubMed: Panneman 2023 - F - - - - - - - RP - 2 1 Daan Panneman
00429973 - PubMed: Panneman 2023 - F - - - - - - - RP - 1 1 Daan Panneman
00447013 ARRP-479 PubMed: Weisschuh 2024 family, >3 affected F - Germany - - - - - ? - 1 4 Johan den Dunnen
00447504 ARRP-444 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - ? - 1 1 Johan den Dunnen
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