All individuals with variants in gene NDP

205 entries on 3 pages. Showing entries 1 - 100.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00000396 - PubMed: Romaniello 2013 - M - (Italy) - >08y - - - CRMCC, ND - 1 1 Anne Polvi
00037523 - - - M yes Iran white - - - - ? Microphthalmia Sclerocornea 1 1 Elena Semina
00037527 - PubMed: Nikopoulos 2010 - - - - - - - - - ND - 1 1 Frans Cremers
00037528 - PubMed: Schuback 1995 - - - - - - - - - ND - 1 1 Frans Cremers
00037529 - Berger 1992 - - - - - - - - - ND - 1 1 Frans Cremers
00037530 - Berger 1992 - - - - - - - - - ND - 1 1 Frans Cremers
00037531 - PubMed: Nikopoulos 2010 - - - - - - - - - ND - 1 1 Frans Cremers
00037532 - Fuchs 1996 - - - - - - - - - ND - 1 1 Frans Cremers
00037533 - Yamada 2001 - - - - - - - - - ND - 1 1 Frans Cremers
00037534 - Gal 1996 - - - - - - - - - ND - 1 1 Frans Cremers
00037535 - Kondo 2007 - - - - - - - - - EVR2 - 1 1 Frans Cremers
00037536 - PubMed: Schuback 1995 - - - - - - - - - ND - 1 1 Frans Cremers
00037537 - Meindl 1992 - - - - - - - - - ND - 1 1 Frans Cremers
00037538 - Ott 2000 - - - - - - - - - ND - 1 1 Frans Cremers
00037539 - PubMed: Schuback 1995 - - - - - - - - - ND - 1 1 Frans Cremers
00037540 - Walker 1997 - - - - - - - - - ND - 1 1 Frans Cremers
00037541 - PubMed: Riveiro-Alvarez 2005 - - - Spain - - - - - ND - 1 1 Frans Cremers
00037542 - Wu 2007 - - - - - - - - - ND - 1 1 Frans Cremers
00037543 - Berger 1992 - - - - - - - - - ND - 1 1 Frans Cremers
00037544 - PubMed: Schuback 1995 - - - - - - - - - ND - 1 1 Frans Cremers
00037545 - Mintz-Hittner 1996 - - - - - - - - - ND - 1 1 Frans Cremers
00037546 - Berger 1992 - - - - - - - - - ND - 1 1 Frans Cremers
00037547 - PubMed: Nikopoulos 2010 - - - - - - - - - ND - 1 1 Frans Cremers
00037548 - PubMed: Riveiro-Alvarez 2005 - - - Spain - - - - - ND - 1 1 Frans Cremers
00037549 - Royer 2003 - - - - - - - - - EVR2 - 1 1 Frans Cremers
00037550 - Fuchs 1996 - - - - - - - - - ND - 1 1 Frans Cremers
00037551 - Kellner 1996 - - - - - - - - - ? ocular phenotypes 1 1 Frans Cremers
00037552 - Wong 1993 - - - - - - - - - ND - 1 1 Frans Cremers
00037553 - PubMed: Schuback 1995 - - - - - - - - - ND - 1 1 Frans Cremers
00037554 - PubMed: Nikopoulos 2010 - - - - - - - - - ND - 1 1 Frans Cremers
00037555 - PubMed: Nikopoulos 2010 - - - - - - - - - ND - 1 1 Frans Cremers
00037556 - PubMed: Nikopoulos 2010 - - - - - - - - - ND - 1 1 Frans Cremers
00037557 - PubMed: Nikopoulos 2010 - - - - - - - - - ND - 1 1 Frans Cremers
00037558 - PubMed: Nikopoulos 2010 - - - - - - - - - ND - 1 1 Frans Cremers
00037559 - PubMed: Nikopoulos 2010 - - - - - - - - - ND - 1 1 Frans Cremers
00037560 - PubMed: Riveiro-Alvarez 2005 - - - Spain - - - - - ND - 1 1 Frans Cremers
00037561 - PubMed: Nikopoulos 2010 - - - - - - - - - ND - 1 1 Frans Cremers
00037562 - PubMed: Nikopoulos 2010 - - - - - - - - - ND - 1 2 Frans Cremers
00037563 - Joos 1994 - - - - - - - - - ND - 1 1 Frans Cremers
00037564 - Wu 2007 - - - - - - - - - ND - 1 1 Frans Cremers
00037565 - Caballero 1996 - - - - - - - - - ND - 1 1 Frans Cremers
00037566 - PubMed: Nikopoulos 2010 - - - - - - - - - ND - 1 1 Frans Cremers
00037567 - Hatsukawa 2002 - - - - - - - - - ? retinopathy or prematurity 1 1 Frans Cremers
00263089 E9 III-2 PubMed: Wu 2016 family of 3-generations, 2 affected M no Taiwan - - - - - EVR;FEVR familial exudative vitreoretinopathy (HP:0030490); no sign of retinitis pigmentosa (HP:0000510); left eye: total traction retinal detachment (HP:0007917), corneal opacity (HP:0007957), retinal hole (HP:0011530) 1 2 Jasmine Chen
00263295 E9 III-4 PubMed: Wu 2016 3 generation family, 2 affected M no Taiwan - - - - right eye intraocular lens implantation EVR;FEVR familial exudative retinopathy (HP:0030490), right eye fibrovascular stalk (HP:0007968), left eye (HP:0001103) 1 1 Jasmine Chen
00265315 QT675 IV:6 PubMed: Yang 2012 4 generation family, 4 affected M no China - - - - - EVR;FEVR, ND Norrie's disease (HP:0000407), total retinal detachment (HP:0000541) 1 4 Jasmine Chen
00265352 QT686 II:2 PubMed: Yang 2012 2 generation family, 1 affected (isolated) M no China - - - - - ND Norrie disease (HP:0000407), microphthalmia (HP:0000568) 1 1 Jasmine Chen
00265353 QT682 IV:8 PubMed: Yang 2012 4 generation family, 3 affected M no China - - - - - ND Norrie disease (HP:0000407), total retinal detachment (HP:0000541) 1 3 Jasmine Chen
00265354 QT834 II:1 PubMed: Yang 2012 2 generation family, 1 affected, isolated M no China - - - - - ND Norrie disease (HP:0000407), total retinal detachment (HP:0000541) 1 1 Jasmine Chen
00265355 QT871 IV:2 PubMed: Yang 2012 4 generation family, 2 affected M no China - - - - - ND Norrie disease (HP:0000407), total retinal detachment 1 2 Jasmine Chen
00274456 Family 1 PubMed: Dickinson 2006 monozygotic male twins M ? Australia - - - - - EVR2, EVR;FEVR, ND bilateral total detachment (HP:0000541), Norrie-related deafness (HP:0000365) 1 2 Jasmine Chen
00274457 - PubMed: Dickinson 2006 - M ? Australia - - - - - EVR2, EVR;FEVR exudative vitreoretinopathy (HP:0030490) 1 1 Jasmine Chen
00274458 - PubMed: Dickinson 2006 - M ? Australia - - - - - ROP Stage 2 retinopathy of prematurity (HP:0500051), mild hypermetropia at 01y06m (HP:0031728), born 25 weeks gestation, 950g, 3 months oxygen therapy, spontaneous regression 1 1 Jasmine Chen
00274459 - PubMed: Dickinson 2006 prematurely born at 29 weeks of gestation, 1195g, oxygen therapy (normal at ocular exam) F ? Australia - - - - - Healthy/Control 29 weeks gestation birth, 1195g, oxygen therapy (normal at ocular examination) 1 1 Jasmine Chen
00274675 Patient 1 PubMed: Wawrocka 2016 - M ? Poland - - - - - EVR2, EVR;FEVR exudative vitreoretinopathy (HP:0030490), retinal detachment (HP:0000541), iris rubeosis (HP:0025319) 2 1 Jasmine Chen
00274676 Patient 2 PubMed: Wawrocka 2016 - M ? Poland - - - - - EVR2, EVR;FEVR exudative vitreoretinopathy (HP:0030490) 1 1 Jasmine Chen
00274677 Family 1 III:6 PubMed: Pelcastre 2010 3 generation family, 12 affected (all male) M no Mexico - - - - - EVR2, EVR;FEVR, ND total retinal detachment (HP:0030490) 1 12 Jasmine Chen
00274678 Family 2 III:1 PubMed: Pelcastre 2010 4 generation family, 7 affected (all male) M no Mexico - - - - - EVR2, EVR;FEVR, ND retinal detachment (HP:0030490), vitreoretinal haemorrhage (HP:0007902) 1 7 Jasmine Chen
00274679 Family 3 III:8 PubMed: Pelcastre 2010 4 generation family, 4 affected (male) M no Mexico - - - - - EVR2, EVR;FEVR, ND exudative vitreoretinopathy (HP:0030490), bilateral phthisis (HP:0000667), subscapular cataract (HP:0000523) 1 4 Jasmine Chen
00274680 Family 4 III:1 PubMed: Pelcastre 2010 4 generation family, 8 affected (male) M no Mexico - - - - - EVR2, EVR;FEVR exudative vitreoretinopathy (HP:0030490) 1 8 Jasmine Chen
00274681 Family 21 IV:2 PubMed: Musada 2013 4 generation family, 2 affected (1 male proband and mother) M yes India - - - - - EVR2, EVR;FEVR exudative vitreoretinopathy (HP:0030490) 1 2 Jasmine Chen
00274682 Family 97 II:2 PubMed: Musada 2016 2 generation family, 1 affected M no India - - - - - EVR2, EVR;FEVR exudative vitreoretinopathy (HP:0030490) 1 1 Jasmine Chen
00274683 Family 3 II:2 PubMed: Musada 2016 2 generation family, 2 affected (proband and mother) M no India - - - - - EVR2, EVR;FEVR exudative vitreoretinopathy (HP:0030490), vitreoretinal traction 1 2 Jasmine Chen
00274684 Family 72 IV:1 PubMed: Musada 2016 4 generation family, 3 affected F no India - - - - - EVR2, EVR;FEVR exudative vitreoretinopathy (HP:0030490) 1 3 Jasmine Chen
00274685 Family 139 II:2 PubMed: Musada 2016 2 generation, 2 affected (1 severe, 1 mild) M no India - - - - - EVR2, EVR;FEVR exudative vitreoretinopathy (HP:0030490) 1 2 Jasmine Chen
00274686 Family 85 II:1 PubMed: Musada 2016 2 generation, 1 affected (sporadic) M no India - - - - - EVR2, EVR;FEVR exudative vitreoretinopathy (HP:0030490) 1 1 Jasmine Chen
00274687 Family 94 II:1 PubMed: Musada 2016 2 generation, 1 affected, sporadic M no India - - - - - EVR2, EVR;FEVR exudative vitreoretinopathy (HP:0030490) 1 1 Jasmine Chen
00274688 Family 142 IV:1 PubMed: Musada 2016 4 generation family, 1 affected M yes India - - - - - EVR2, EVR;FEVR - 1 1 Jasmine Chen
00274690 Family 108 III:2 PubMed: Musada 2016 3 generation family, 2 affected M no India - - - - - EVR2, EVR;FEVR - 1 2 Jasmine Chen
00274691 Family 65 V:2 PubMed: Musada 2016 5 generation family, 1 affected M yes India - - - - - EVR2, EVR;FEVR - 1 1 Jasmine Chen
00274890 Proband V:9 PubMed: Liu 2016 6 generation family, 7 affected M no China - - - - - EVR2, EVR;FEVR exudative vitreoretinopathy (HP:0030490) 1 7 Jasmine Chen
00275006 Patient 2 PubMed: Drenser 2006 Check with Carmel as protein and coding sequence do not match on Name Checker family history present (no pedigree available) ? ? United States - - - - - EVR2, EVR;FEVR exudative vitreoretinpathy (HP:0030490) 1 1 Jasmine Chen
00275440 Family 2 III-1 PubMed: Kondo 2007 3 generation family, 1 affected M ? Japan - - - - - EVR2, EVR;FEVR exudative vitreoretinopathy (HP:0030490), retinal folds (HP:0008052) 1 1 Jasmine Chen
00275443 Family 4 III-1 PubMed: Kondo 2007 3 generation, 1 affected M no Japan - - - - - EVR2, EVR;FEVR exudative vitreoretinopathy (HP:0030490), low bone mineral density (HP:004349) 1 1 Jasmine Chen
00275445 Family 5 III-1 PubMed: Kondo 2007 3 generation, 3 affected M no Japan - - - - lensectomy EVR2, EVR;FEVR, ND total retinal detachment (HP:0000541) 1 3 Jasmine Chen
00275447 Family 6 III-1 PubMed: Kondo 2007 3 generation, 2 affected M no Japan - - - - - EVR2, EVR;FEVR, ND - 1 2 Jasmine Chen
00275449 - PubMed: Lin 2010 2 generation, 2 affected M ? Viet Nam - - - - - EVR2, EVR;FEVR, ND - 1 1 Jasmine Chen
00275456 Family 1 II:2 PubMed: Riveiro-Alvarez 2 generation, 1 affected (isolated) M no Spain - - - - - EVR2, EVR;FEVR, ND microphthalmia (HP:0000568), sensorineural hearing loss (HP:0000407), developmental delay (HP:0001249) 1 1 Jasmine Chen
00275473 Family 1 IV:3 PubMed: Shastry 1997 4 generation, 3 affected, 3 unaffected male M no United States - - - - - EVR2, EVR;FEVR - 1 3 Jasmine Chen
00275474 Family 2 III:2 PubMed: Shastry 1997 sporadic M no United States - - - - - EVR2, EVR;FEVR - 1 1 Jasmine Chen
00275475 Family 3 III:4 PubMed: Shastry 1997 sporadic, 3 generation family M no United States - - - - - EVR2, EVR;FEVR - 1 1 Jasmine Chen
00275477 Family 5 III:2 PubMed: Shastry 1997 sporadic, 3 generation family M no United States - - - - - EVR2, EVR;FEVR - 1 1 Jasmine Chen
00287050 FamPatII3 PubMed: Bao 2019 3-generation family, 3 affected (3M), 4 unaffected female carriers M ? (China) Chinese - - - - EVR2 "Best-corrected visual acuity: no light pursuit; 0.05 Optometry: NA intraocular pressure (mmHg): NA; 16 Axial length: NA Corneal: CO; Normal Lens: Opacity; IOL Vitreous: NA; Normal Fundus: NA; CA Ultrasonography: Atrophy; NA FFA (fundus fluorescein angiography): NA; NA" 1 3 Dong Sun
00287052 FamPatII5 PubMed: Bao 2019 brother M ? China Chinese - - - - EVR2 "Best-corrected visual acuity: no light pursuit; hand movement/10 cm Optometry: NA intraocular pressure: NA; 8 Axial length: NA Corneal: CO; Normal Lens: NA;Opacity Vitreous: NA; NA Fundus: NA; NA Ultrasonography: Atrophy; membrane connected with optic disc FFA(fundus fluorescein angiography): NA; NA" 1 1 Dong Sun
00287053 FamPatIII6 PubMed: Bao 2019 nephew, unaffected carrier mother M ? China Chinese - - - - EVR2 "best-corrected visual acuity:1.0; 1.0 Optometry: -0.75DS/-3.50 DC*10; +1.25DS/ +1.50DC*80 intraocular pressure (mmHg):12; 12 Axial length: NA Corneal: Normal Normal Lens: Normal Normal Vitreous: vitreous hemorrhage; vitreous hemorrhage Fundus: brush-like vessels; brush-like vessels Ultrasonography: vitreous hemorrhage; vitreous hemorrhage FFA: avascular zone; neovascularization" 1 1 Dong Sun
00295062 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 20 Mohammed Faruq
00305304 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 18 Mohammed Faruq
00309240 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309241 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00332290 Fam55 PubMed: Tang 2017 - - - China - - - - - retinal disease - 1 1 LOVD
00332291 Fam57 PubMed: Tang 2017 - - - China - - - - - retinal disease - 1 1 LOVD
00332292 Fam56 PubMed: Tang 2017 - - - China - - - - - retinal disease - 1 1 LOVD
00332293 Fam5 PubMed: Tang 2017 - - - China - - - - - retinal disease - 1 1 LOVD
00332294 Fam58 PubMed: Tang 2017 - - - China - - - - - retinal disease - 1 1 LOVD
00333454 Fam4 PubMed: Iarossi 2017 2-generation family, 2 affected brothers M - Italy - - - - - retinal disease see paper; ... 1 2 LOVD
00333455 Fam5 PubMed: Iarossi 2017 2-generation family, 1 affected, carrier mother M - Italy - - - - - retinal disease see paper; ... 1 1 LOVD
00333786 993 PubMed: Stone 2017 family, 9 affected M - (United States) - - - - - retinal disease clinical category IIIE2a 1 9 LOVD
00335208 NCRNA11 PubMed: Keser 2017 - - - Pakistan - - - - - retinal disease see paper; ... 1 1 LOVD
00335210 NCRNA14 PubMed: Keser 2017 - - - Pakistan - - - - - retinal disease see paper; ... 1 1 LOVD
00373448 1458001 PubMed: Salvo 2015 family - - United States - - - - - retinal disease see paper; ... 1 1 LOVD
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