All individuals with variants in gene TSPAN12

144 entries on 2 pages. Showing entries 1 - 100.
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VIP     
Data_av     
Treatment     
Disease     
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00155557 MOL0513 PubMed: Beryozkin 2015, PubMed: Sharon 2019 family F yes Israel Beduin - - - - EVR;FEVR - 1 4 Dror Sharon
00265356 Family 1 III:1 PubMed: Kondo 2011 3 generation family, 5 affected F no Japan - - - - - EVR5, EVR;FEVR familial exudative vitreoretinopathy (HP: 0030490) 1 5 Jasmine Chen
00265370 Family1PatII1 PubMed: Kondo 2011 PatII1 F no Japan - - - - - EVR5, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490) 1 1 Jasmine Chen
00265371 Family1PatIII2 PubMed: Kondo 2011 PatIII2 M no Japan - - - - - EVR5, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490) 1 1 Jasmine Chen
00265372 Family3PatII1 PubMed: Kondo 2011 2 generation family, 1 affected, isolated M no Japan - - - - vitrectomy EVR5, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), aphakia (HP:0007707), RE phthisis (HP:0000667) 1 1 Jasmine Chen
00265640 Fam4PatII1 PubMed: Kondo 2011 2 generation family, 2 affected (father/daughter) F no Japan - - - - vitrectomy EVR5, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490) 1 2 Jasmine Chen
00269766 FamCPatII2 PubMed: Nikopoulos 2010a 3 generation family, 1 affected F no Netherlands - - - - - EVR5, EVR;FEVR familial exudative vitreoretinopathy (HP: 0030490) 1 1 Jasmine Chen
00271180 FamDPatIII2 PubMed: Nikopoulos 2010 3-generation family, 4 affected F no Netherlands - - - - - EVR5, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490) 1 4 Jasmine Chen
00271181 FamAPatIII7 PubMed: Nikopoulos 2010 4 generation family, 7 affected, 1 unknown clinical significance (3F, 4M) M no Netherlands - - - - - EVR5, EVR;FEVR - 1 7 Jasmine Chen
00271182 FamBPatII5 PubMed: Nikopoulos 2010 4 generation family, 10 affected (6F, 4M), one healthy with mutation) F no Netherlands - ? - - - EVR5, EVR;FEVR - 1 10 Jasmine Chen
00271183 FamEPatII1 PubMed: Nikopoulos 2010 2 generation family, 3 affected M no Netherlands - - - - - EVR5, EVR;FEVR - 1 3 Jasmine Chen
00271310 Family 1 III:2 PubMed: Poulter 2010 3 generation family, 1 affected (1 unusual fundus appearance), 1 carrier F no Australia - - - - - EVR5, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), macular ectopia (HP:0001103), left eye retinal folds (HP:0008052) 1 2 Jasmine Chen
00271312 Family 1 II:2 PubMed: Poulter 2010 3 generation family, 1 affected, II:2 with unusual fundus appearance M no Australia - - - - - EVR;FEVR asymptomatic, bone spicule pigmentation of retina (HP:0007737) commonly associated with retinitis pigmentosa (HP:0000510), suspected old exudative retinal detachment (HP:0012231) spontaneously resolved 1 1 Jasmine Chen
00271313 Family 2 II:3 PubMed: Poulter 2010 proband, 2 generation family, 2 affected F no Japan - - - - - EVR5, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), bilateral retinal folds (HP:0008052) 1 2 Jasmine Chen
00271314 Individual Patient 1 PubMed: Poulter 2010 Isolated patient (no reported eye problems in family) F ? United States - - - - - EVR5, EVR;FEVR exudative vitreoretinopathy (HP:0030490), bilateral retinal folds (HP:0008052), persistent hyperplastic primary vitreous (HP:0007968) 1 1 Jasmine Chen
00271315 Individual Patient 2 PubMed: Poulter 2010 Isolated individual F ? United Kingdom (Great Britain) - - - - - EVR5, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), bilateral temporal retinal avascularity (HP:0007685), traction of retinal vasculature (HP:0007917) 1 1 Jasmine Chen
00271316 Family 3 III:1 PubMed: Poulter 2010 3 generation family, 2 affected F no United States European - - - - EVR5, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), bilateral retinal folds (HP:0008052) 1 2 Jasmine Chen
00271317 Family 4 II:1 PubMed: Poulter 2010 2 generation family, 2 affected M no United Kingdom (Great Britain) - - - - - EVR5, EVR;FEVR severe familial exudative vitreoretinopathy (HP:0030490) 1 2 Jasmine Chen
00271318 Individual Patient 3 PubMed: Poulter 2010 No reported family history of disease M ? Australia - - - - - EVR5, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), bilateral macular traction (HP:0031151) 1 1 Jasmine Chen
00271319 HMH IV:2 PubMed: Poulter 2012 5 generation family, 3 severely affected, 9 mildly affected, 2 phenocopy F no Mexico - - - - - EVR5, EVR;FEVR mild familial exudative vitreoretinopathy (HP:0030490) 1 9 Jasmine Chen
00271320 HMH V:7 PubMed: Poulter 2012 5 generation family, 3 severely affected, 2 mildly affected, 2 phenocopy M ? Mexico - - - - - EVR5, EVR;FEVR severe familial exudative vitreoretinopathy (HP:0030490), tractional retinal detachment (HP:0007917) 1 3 Jasmine Chen
00271321 VL IV:1 PubMed: Poulter 2012 PubMed: Savarese 2014 4 generation family, 1 affected F yes Pakistan - - - - - CF, EVR5, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), bilateral retinal folds (HP:0008052) 1 1 Jasmine Chen
00271322 TM IV:1 PubMed: Poulter 2012 4 generation family, 1 severely affected, 3 mildly affected F yes India - - - - - EVR5, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), bilateral retinal folds (HP:0008052) 1 4 Jasmine Chen
00271323 TM III:9 PubMed: Poulter 2012 4 generation family, 1 severely affected, 3 mildly affected M no India - - - - - EVR5, EVR;FEVR unilateral congenital visual loss (HP:0030553), persistent hyperplasia primary vitreous (HP:0007968) 1 1 Jasmine Chen
00271324 Individual 1 PubMed: Poulter 2012 Sporadic patient F no United Kingdom (Great Britain) Nigerian - - - - EVR5, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), bilateral congenital cataracts (HP:0000518), persistent hyperplasia primary vitreous (HP:0007968), retinal fold left eye (HP:0008052) 2 1 Jasmine Chen
00271329 Patient 2 PubMed: Seo 2016 pedigree not available, at least 2 affected F ? Korea, South (Republic) - - - - - EVR5, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), macular dragging left eye (HP:0031151) 1 2 Jasmine Chen
00271332 Patient 4 PubMed: Seo 2016 pedigree unavailable M ? Korea, South (Republic) - - - - - EVR5, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), bilateral macular dragging (HP:0031151) 1 1 Jasmine Chen
00271334 Family 1 II:1 PubMed: Yang 2011 2 generation family, 1 affected M no China - - - - - EVR5, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), falciform retinal folds left eye (HP:0001493), strabismus (HP:0000486) 1 1 Jasmine Chen
00271335 Family 2 II:1 PubMed: Yang 2011 2 generation family, 1 affected M no China - - - - - EVR5, EVR;FEVR - 1 1 Jasmine Chen
00271336 Family 3 II:1 PubMed: Yang 2011 2 generation family, 1 affected F no China - - - - - EVR5, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), esotropia (HP:0000565) 1 1 Jasmine Chen
00274333 A II:1 PubMed: Xu 2014 2 generation family, 1 affected F no China - - - - - EVR5, EVR;FEVR exudative vitreoretinopathy (HP:0030490), bilateral retinal folds (HP:0008052) 1 1 Jasmine Chen
00274334 B II:1 PubMed: Xu 2014 2 generation family, 1 affected F no China - - - - - EVR5, EVR;FEVR exudative vitreoretinopathy (HP:0030490), esotropia (HP:0000565), falciform retinal folds (HP:0001493) 1 1 Jasmine Chen
00274335 C II:1 PubMed: Xu 2014 2 generation family, 1 affected M no China - - - - - EVR5, EVR;FEVR exudative vitreoretinopathy (HP:0030490), LE dragged disk 1 1 Jasmine Chen
00274336 V-1 PubMed: Gal 2014 5 generation family, 13 affected M yes (Israel) Bedouin - - - - EVR5, EVR;FEVR, ND, PHPVAR blindness (HP:0000618), phthisis bulbi (HP:0000667) 1 13 Jasmine Chen
00274337 V-8 PubMed: Gal 2014 5 generation family, 13 affected M yes Israel Bedouin - - - - EVR5, EVR;FEVR, ND, PHPVAR total retinal detachment (HP:0000541) 1 12 Jasmine Chen
00274354 IV:1 PubMed: Li 2019 4 generation family, 6 affected (2 severe, 4 mild) M no China - - - - - EVR5, EVR;FEVR, PHPVAR exudative vitreoretinopathy (HP:0030490), mild persistent hyperplasia of the primary vitreous (HP:0007968) 1 6 Jasmine Chen
00274359 Patient 9 PubMed: Zhang 2019 - F ? China - - - - - ROP - 1 1 Jasmine Chen
00274454 Pat12/29 PubMed: Zhang 2019 2 cases M ? China - - - - - ROP - 1 2 Jasmine Chen
00287054 Fam PubMed: Carroll 2019 family, affected and asymptomatic heterozygous carriers F ? - white - - - laser-assisted in situ keratomileusis (LASIK) EVR5 best-corrected visual acuity (BCVA) in each eye was 20/20. Intraocular pressures were normal and there was no relative afferent pupillary defect. Slit lamp examination (SLE) was significant for LASIK flaps in each eye. Dilated funduscopic examination (DFE) was similar in both eyes and revealed crowded discs, normal maculae, and dragged and straightened posterior vessels. Peripheral retina examination revealed areas of pigment clumping with an abrupt termination of vasculature temporally; additionally, seafan-like lesions were seen in both eyes (Figure 1a,b). Ultra wide- field fluorescein angiography (UWFA) demonstrated marked temporal retinal nonperfusion with “brush-border” leakage and intense hyperfluorescence corresponding to the afore- mentioned peripheral lesions bilaterally 1 3 Dong Sun
00287055 Fam PubMed: Carroll 2019 younger sister F ? - white - - - - EVR5 no past medical history and a past ocular history of LASIK in both eyes. BCVA was 20/20 and SLE showed LASIK flaps and posterior vitreous detachment bilaterally. DFE showed mild temporal vascular dragging as well as peripheral pigmentary clumping in both eyes. UWFA showed avascularity in the far temporal retina as well as mild staining along some peripheral vessels in both eyes 1 1 Dong Sun
00287068 Fam PubMed: Carroll 2019 mother F - - white - - - - EVR5 no past medical history and a past ocular history of LASIK in both eyes. BCVA was 20/20 and SLE showed LASIK flaps bilaterally. DFE showed supernumerary vessels in both eyes as well as mild temporal dragging with abrupt termination of retinal vessels associated with fibrovascular tissue in the left eye. UWFA showed patchy staining of peripheral retinal vessels in the right eye and a wedge-shaped area of temporal nonperfusion with “brush border” leakage in the left eye 1 1 Dong Sun
00287069 Fam1PatI2 PubMed: Yuan 2019 2-generation family, mother/daughter/son F ? China Chinese - - - - EVR5 "The Fundus photography and FFA examination of her showed that temporal peripheral ischemia led to neovascularization, dilation of peripheral retinal vessels, and fluorescein leakage in both eyes" 1 3 Dong Sun
00287070 Fam1PatII1 PubMed: Yuan 2019 daughter F ? China Chinese - - - - EVR5 - 1 1 Dong Sun
00287071 Fam1PatII2 PubMed: Yuan 2019 son M ? (China) Chinese - - - - EVR5 - 1 2 Dong Sun
00287072 Fam2PatI1 PubMed: Yuan 2019 2-generation family, affected father/daughter M ? China Chinese - - - - EVR5 "The Fundus photography and FFA examination of her father showed that temporal peripheral ischemia leads to dilation of the brush-like peripheral retinal vessels in both eyes and neovascularization and fluorescein leakage in the right eye" 1 2 Dong Sun
00287073 Fam2PatII1 PubMed: Yuan 2019 daughter F ? China Chinese - - - - EVR5 "the proband suffered ophthalmic problems and presented retinal detachment since birth" 1 1 Dong Sun
00287074 Fam3PatI2 PubMed: Yuan 2019 2-generation family, affected mother/daughter F ? China Chinese - - - - EVR5 - 1 2 Dong Sun
00287075 Fam3PatII1 PubMed: Yuan 2019 daughter F ? China Chinese - - - - EVR5 "the proband was confirmed as having FEVR and presented with mild vitreous opacity" 1 1 Dong Sun
00287076 Fam4PatII2 PubMed: Yuan 2019 3-generation family, 3 affected (2F, M) F ? China Chinese - - - - EVR5 - 1 3 Dong Sun
00287077 Fam4PatII3 PubMed: Yuan 2019 brother M ? China Chinese - - - - EVR5 - 1 1 Dong Sun
00287078 Fam4PatIII1 PubMed: Yuan 2019 daughter F ? China Chinese - - - - EVR5 "the proband developed retinal detachment in both her eyes" 1 1 Dong Sun
00328045 G001414 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - retinal disease - 1 1 LOVD
00328387 691006 PubMed: Zhou 2018 - - - China - - - - - retinal disease - 1 1 LOVD
00328388 691013 PubMed: Zhou 2018 - - - China - - - - - retinal disease - 1 1 LOVD
00332303 Fam51 PubMed: Tang 2017 - - - China - - - - - retinal disease - 1 1 LOVD
00332304 Fam54 PubMed: Tang 2017 - - - China - - - - - retinal disease - 1 1 LOVD
00332305 Fam50 PubMed: Tang 2017 - - - China - - - - - retinal disease - 1 1 LOVD
00332306 Fam45 PubMed: Tang 2017 - - - China - - - - - retinal disease - 1 1 LOVD
00332307 Fam48 PubMed: Tang 2017 - - - China - - - - - retinal disease - 1 1 LOVD
00332310 Fam49 PubMed: Tang 2017 - - - China - - - - - retinal disease - 1 1 LOVD
00332311 Fam20 PubMed: Tang 2017 - - - China - - - - - retinal disease - 1 1 LOVD
00332312 Fam46 PubMed: Tang 2017 - - - China - - - - - retinal disease - 1 1 LOVD
00333374 Pat2 PubMed: Huang 2017 2-generation family, 4 affeceted (2F, 2M) F;M - China - - - - - retinal disease see paper; ... 1 4 LOVD
00333376 Pat4 PubMed: Huang 2017 - F - China - - - - - retinal disease see paper; ... 1 1 LOVD
00333456 Fam6 PubMed: Iarossi 2017 2-generation family, 1 affected, carrier mother M - Italy - - - - - retinal disease see paper; ... 1 1 LOVD
00335198 FamPatI2 PubMed: Schatz 2017 2-generation family, affected mother, daughter and son F - Morocco - - - - - retinal disease see paper 1 3 Johan den Dunnen
00335200 FamPatII2 PubMed: Schatz 2017 son M - Morocco - - - - - retinal disease see paper 1 1 Johan den Dunnen
00335203 NCRNA9 PubMed: Keser 2017 - - - Pakistan - - - - - retinal disease see paper; ... 1 1 LOVD
00335212 NCRNA17 PubMed: Keser 2017 - - - Pakistan - - - - - retinal disease see paper; ... 1 1 LOVD
00358992 Fam10 PubMed: Musada 2016 see paper - yes India - - - - - retinal disease see paper; ... 1 1 LOVD
00358993 Fam11 PubMed: Musada 2016 see paper - yes India - - - - - retinal disease see paper; ... 1 1 LOVD
00358994 Fam12 PubMed: Musada 2016 see paper - yes India - - - - - retinal disease see paper; ... 1 1 LOVD
00358995 Fam13 PubMed: Musada 2016 see paper - - India - - - - - retinal disease see paper; ... 1 1 LOVD
00358996 Fam14 PubMed: Musada 2016 see paper - yes India - - - - - retinal disease see paper; ... 1 1 LOVD
00358997 Fam15 PubMed: Musada 2016 see paper - yes India - - - - - retinal disease see paper; ... 1 1 LOVD
00363353 HM674 PubMed: Sun 2015 proband - - China - - - - - retinal disease - 1 1 LOVD
00363836 Pat18 PubMed: Seo 2015 - M - Korea - - - - - retinal disease see paper; ... 1 1 LOVD
00363840 patient PubMed: Seo 2015 FEVR patients - - Korea - - - - - retinal disease - 1 2 LOVD
00363841 patient PubMed: Seo 2015 FEVR patients - - Korea - - - - - retinal disease - 1 1 LOVD
00363842 controls PubMed: Seo 2015 controls - - Korea - - - - - Healthy/Control - 1 1 LOVD
00373454 1400001 PubMed: Salvo 2015 family - - United States - - - - - retinal disease see paper; ... 1 1 LOVD
00373455 7429001 PubMed: Salvo 2015 family - - United States - - - - - retinal disease see paper; ... 1 1 LOVD
00373456 16300001 PubMed: Salvo 2015 family - - United States - - - - - retinal disease see paper; ... 1 1 LOVD
00373457 810006 PubMed: Salvo 2015 family - - United States - - - - - retinal disease see paper; ... 1 1 LOVD
00373458 16305001 PubMed: Salvo 2015 family - - United States - - - - - retinal disease see paper; ... 1 1 LOVD
00373459 16307001 PubMed: Salvo 2015 family - - United States - - - - - retinal disease see paper; ... 1 1 LOVD
00373460 1491001 PubMed: Salvo 2015 family - - United States - - - - - retinal disease see paper; ... 1 1 LOVD
00373462 13766001 PubMed: Salvo 2015 family - - United States - - - - - retinal disease see paper; ... 1 1 LOVD
00375427 RP#021 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00379492 - PubMed: Zhou 2011 - - - China - - - - - retinal disease - 1 1 LOVD
00379493 - PubMed: Zhou 2011 - - - China - - - - - retinal disease - 1 1 LOVD
00380755 8 PubMed: Li 2018 - F - China - - - - - retinal disease - 1 1 LOVD
00380756 9 PubMed: Li 2018 - M - China - - - - - retinal disease - 1 1 LOVD
00382141 273 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - EVR5 retinal dystrophy; MIM, 613310 (recessive forms reported) 1 1 LOVD
00383568 ? PubMed: Wang 2019 - - - China - - - - - retinal disease - 1 1 LOVD
00383569 ? PubMed: Wang 2019 - - - China - - - - - retinal disease - 1 1 LOVD
00383570 ? PubMed: Wang 2019 - - - China - - - - - retinal disease - 1 1 LOVD
00383571 ? PubMed: Wang 2019 - - - China - - - - - retinal disease - 1 1 LOVD
00383572 ? PubMed: Wang 2019 - - - China - - - - - retinal disease - 1 1 LOVD
00383573 ? PubMed: Wang 2019 - - - China - - - - - retinal disease - 1 1 LOVD
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