All individuals with variants in gene IQCB1

162 entries on 2 pages. Showing entries 1 - 100.
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00034507 - PubMed: Wang 2011, Journal: Wang 2011 5-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents/sibs - yes Saudi Arabia - - - - - LCA typical Leber congenital amaurosis with nystagmus, nonrecordable ERGs and other visual defects; no kidney defects at time diagnosi 1 3 Johan den Dunnen
00034508 - PubMed: Wang 2011, Journal: Wang 2011 6-generation family, affected male, family, unaffected heterozygous carrier parents/sibs M yes Saudi Arabia - - - - - LCA typical Leber congenital amaurosis with nystagmus, nonrecordable ERGs and other visual defects; no kidney defects at time diagnosis 1 1 Johan den Dunnen
00034509 - PubMed: Wang 2011, Journal: Wang 2011 4-generation family, affected male, family, unaffected heterozygous carrier parents/sibs M yes Saudi Arabia - - - - - LCA typical LCA Leber congenital amaurosis with nystagmus, nonrecordable ERGs and other visual defects; no kidney defects at time diagnosis 1 1 Johan den Dunnen
00034510 - - - F yes India South India - - - - LCA Leber congenital amaurosis 2 1 Soumittra Nagasamy
00034511 - - - M no India North India - - - - LCA Leber congenital amaurosis 2 1 Soumittra Nagasamy
00034512 - - - F no India North India - - - - LCA Leber congenital amaurosis 2 1 Soumittra Nagasamy
00034513 - - - F yes India South India - - - - LCA Leber congenital amaurosis 2 1 Soumittra Nagasamy
00080931 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - SLSN5 Senior-Loken syndrome type 5 (OMIM:609254) 1 1 Daniel Trujillano
00155482 - Sharon, submitted - F no Israel Jewish-Ashkenazi - - - - LCA - 1 1 Dror Sharon
00155483 - Sharon, submitted - F yes Israel Arab Christian - - - - SLSN - 1 1 Dror Sharon
00293185 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 18 Mohammed Faruq
00308412 CIC00953 PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - - France - - - - - retinal disease - 2 1 Global Variome, with Curator vacancy
00308516 - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00308517 - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309201 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00309202 - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - retinal disease - 1 1 Global Variome, with Curator vacancy
00328017 G001275 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - retinal disease - 2 1 LOVD
00328086 G005007 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - retinal disease - 2 1 LOVD
00328194 G007704 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - retinal disease - 2 1 LOVD
00332182 JB333 PubMed: Bryant 2018 - - - United States - - - - - retinal disease - 1 1 LOVD
00332205 JB28 PubMed: Bryant 2018 - - - United States - - - - - retinal disease - 1 1 LOVD
00332266 Fam10PatFBP_30 PubMed: Porto 2017 proband - - Brazil - - - - - retinal disease - 1 1 LOVD
00332274 Fam28PatFBP_67 PubMed: Porto 2017 proband - - Brazil - - - - - retinal disease - 1 1 LOVD
00332458 Pat21 PubMed: Di Iorio 2017 - - - Italy - - - - - retinal disease see paper; ... 1 1 LOVD
00332465 Pat32 PubMed: Di Iorio 2017 - - - Italy - - - - - retinal disease see paper; ... 2 1 LOVD
00332555 - - - M - - - - - - - ? Rod-cone dystrophy (HP:0000510) 1 1 IMGAG
00333362 Pat2 PubMed: Costa 2017 - F - Brazil - - - - - retinal disease see paper; ... 1 1 LOVD
00333939 398 PubMed: Stone 2017 1 affected M - (United States) - - - - - retinal disease clinical category IA2a 2 1 LOVD
00333940 399 PubMed: Stone 2017 1 affected M - (United States) - - - - - retinal disease clinical category IA2a 1 1 LOVD
00333949 410 PubMed: Stone 2017 1 affected F - (United States) - - - - - retinal disease clinical category IA2b 2 1 LOVD
00333950 411 PubMed: Stone 2017 1 affected M - (United States) - - - - - retinal disease clinical category IA2b 2 1 LOVD
00333974 438 PubMed: Stone 2017 1 affected M - (United States) - - - - - retinal disease clinical category IA2c 2 1 LOVD
00335125 1955 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - ? Senior Loken syndrome 2 1 LOVD
00335126 52 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - ? 5y-diagnosis visual impairment 2 1 LOVD
00358728 - PubMed: Carrigan 2016 - - - Ireland - - - - - retinal disease see paper; ... 2 1 LOVD
00358729 - PubMed: Carrigan 2016 - - - Ireland - - - - - retinal disease see paper; ... 2 1 LOVD
00360410 571 PubMed: Wang 2015 index case F - China Asia - - - - retinal disease visual acuity: OD = light perception, OS = light perception. Patient experienced hyperopia 2 1 Manon Peeters
00362913 ARRP165 PubMed: Weisschuh 2016 family - - Germany - - - - - retinal disease see paper; ... 1 1 LOVD
00372070 FamLCA-4 PubMed: Srilekha 2015 family - yes India India-S - - - - retinal disease see paper; ... 1 1 LOVD
00372414 154 PubMed: Wang 2015 index case - - China - - - - - retinal disease see paper; ... 1 1 LOVD
00372415 697 PubMed: Wang 2015 index case - - China - - - - - retinal disease see paper; ... 1 1 LOVD
00373894 OGI-326-773 PubMed: Consugar 2015 - - - United States - - - - - retinal disease see paper; ... 2 1 LOVD
00376861 Fam9 PubMed: Coppieters 2014 see paper - - Turkey - - - - - retinal disease see paper; ... 1 1 LOVD
00376862 Fam10 PubMed: Coppieters 2014 see paper - yes Belgium - - - - - retinal disease see paper; ... 1 1 LOVD
00376871 Fam21 PubMed: Coppieters 2014 see paper - - Italy - - - - - retinal disease see paper; ... 1 1 LOVD
00377750 - PubMed: Otto 2011 - - - Germany - - - - - retinal disease microcephaly,retinal dystrophy,nystagmus,cerebellar vermis aplasia,ataxia,mental retar 1 1 LOVD
00377781 - PubMed: Otto 2011 - - yes Turkey - - - - - retinal disease - 1 1 LOVD
00377916 - PubMed: Chaki 2011 - - - - - - - - - retinal disease - 1 1 LOVD
00377917 - PubMed: Chaki 2011 - - - - - - - - - retinal disease - 1 1 LOVD
00379720 N10 PubMed: Hussain 2018 - ? - Pakistan - - - - - retinal disease - 1 1 LOVD
00381033 - PubMed: Chen-2013 - M - China Chinese - - - - retinal disease poor vision, nystagmus 1 1 LOVD
00381034 - PubMed: Chen-2013 - F - China Chinese - - - - retinal disease poor vision, roving nystagmus 1 1 LOVD
00381145 - PubMed: Verma-2013 - M yes India South Indian - - - - retinal disease - 1 1 Julia Lopez
00381209 - PubMed: Wang-2013 novel LOF mutations - no - - - - - - retinal disease - 2 1 Julia Lopez
00381210 - PubMed: Wang-2013 novel LOF mutations - no - - - - - - retinal disease - 2 1 Julia Lopez
00381211 - PubMed: Wang-2013 novel LOF mutations - no - - - - - - retinal disease - 2 1 Julia Lopez
00382257 86 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - retinal disease - 1 1 LOVD
00382556 418 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - retinal disease - 1 1 LOVD
00382557 419 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - retinal disease - 1 1 LOVD
00384316 13641 PubMed: Wang 2019 - M - China - - - - - retinal disease - 1 1 LOVD
00384341 13780 PubMed: Wang 2019 - M - China - - - - - retinal disease - 2 1 LOVD
00384351 13862 PubMed: Wang 2019 - F - China - - - - - retinal disease - 1 1 LOVD
00384420 14408 PubMed: Wang 2019 - M - China - - - - - retinal disease - 2 1 LOVD
00385024 19398 PubMed: Xu 2020 - ? no China - - - - - retinal disease nyctalopia, no nystagmus, ERG severely declined, best corrected visual acuity right/left eye: 0.3/0.2 2 1 LOVD
00385159 46 PubMed: Jiman 2020 - F - (United Kingdom (Great Britain)) - - - - - retinal disease Referred with FHx of SLS but does not fulfil criteria; HP:0000510 Rod-cone dystrophy 1 1 LOVD
00385235 - PubMed: Redin-2012 - - - Portugal - - - - - retinal disease - 1 1 LOVD
00386160 RPN-234 PubMed: RodriguezjalopezMunoz 2020 family fRPN-100, proband M - Spain - - - - - retinal disease - 2 1 LOVD
00386262 RPN-104 PubMed: Rodriguez-Munoz 2020 family fRPN-38, proband F - Spain - - - - - retinal disease - 1 1 LOVD
00386267 RPN-116 PubMed: Rodriguez-Munoz 2020 family fRPN-45, proband M - Spain - - - - - retinal disease - 1 1 LOVD
00387576 - PubMed: Ghessari 2015 - - - Iran Iranian - - - - retinal disease - 1 5 LOVD
00388731 15 PubMed: Weisschuh 2020 Filing key number: 9, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 2 1 LOVD
00389157 441 PubMed: Weisschuh 2020 Filing key number: 141, Leber congenital amaurosis, no patient Ids, consecutive numbers given M - Germany - - - - - retinal disease age at genetic diagnosis mentioned 2 1 LOVD
00389216 500 PubMed: Weisschuh 2020 Filing key number: 165, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00389217 501 PubMed: Weisschuh 2020 Filing key number: 165, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00389218 502 PubMed: Weisschuh 2020 Filing key number: 165, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - retinal disease age at genetic diagnosis mentioned 1 1 LOVD
00390289 G001275 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - retinal disease - 2 1 LOVD
00390290 G005007 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - retinal disease - 2 1 LOVD
00390291 G007704 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - retinal disease - 2 1 LOVD
00390292 G012335 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - retinal disease - 2 1 LOVD
00390746 F4_III.2 PubMed: Habibi 2020 Family F4, patient III.1 F - Tunisia - - - - - retinal disease Visual acuity right eye/left eye: 1/20_1/20, normal fundus appearance, normal macula, ERG: extinct response 1 1 LOVD
00390747 F4_III.1 PubMed: Habibi 2020 Family F4, patient III.2 M - Tunisia - - - - - retinal disease - 1 1 LOVD
00391652 49 PubMed: Sallum 2020 - ? - Brazil - - - - - retinal disease best corrected visual acuity right/left eye: light perception 1 1 LOVD
00391653 50 PubMed: Sallum 2020 - ? - Brazil - - - - - retinal disease best corrected visual acuity right/left eye: light perception 1 1 LOVD
00391654 51 PubMed: Sallum 2020 - ? - Brazil - - - - - retinal disease best corrected visual acuity right/left eye: light perception 1 1 LOVD
00391655 52 PubMed: Sallum 2020 - ? - Brazil - - - - - retinal disease best corrected visual acuity right/left eye: 20/40:20/50 2 1 LOVD
00391751 136 PubMed: Sallum 2020 - ? - Brazil - - - - - retinal disease best corrected visual acuity right/left eye: light perception 1 1 LOVD
00394604 - PubMed: Colombo-2020 - M yes - - - - - - retinal disease - 1 1 LOVD
00395429 F10‑III PubMed: Shen 2021 - F yes China - - - - - retinal disease Vision impairment, nystagmus, best corrected visual acuity hand movement/hand movement 1 1 LOVD
00407123 F1 (II-1) PubMed: Otto 2005 family F1, individual II-1 ? yes Germany - - - - - retinal disease - 1 1 LOVD
00407124 F1 (II-2) PubMed: Otto 2005 family F1, individual II-2 ? yes Germany - - - - - retinal disease - 1 1 LOVD
00407125 F399 (II-1) PubMed: Otto 2005 family F399, individual II-1 ? no Germany - - - - - retinal disease - 1 1 LOVD
00407126 F408 (II-1) PubMed: Otto 2005 family F408, individual II-1 ? no Switzerland - - - - - retinal disease - 1 1 LOVD
00407127 F409 (II-1) PubMed: Otto 2005 family F409, individual II-1 ? no Switzerland - - - - - retinal disease - 1 1 LOVD
00407128 F53 (II-2) PubMed: Otto 2005 family F53, individual II-2 ? no Germany - - - - - retinal disease - 1 1 LOVD
00407129 F269 (II-1) PubMed: Otto 2005 family F269, individual II-1 ? no Germany - - - - - retinal disease - 2 1 LOVD
00407130 A19 (II-1) PubMed: Otto 2005 family A19, individual II-1 ? no Germany - - - - - retinal disease - 2 1 LOVD
00407131 F2 (II-1) PubMed: Otto 2005 family F2, individual II-1 ? no Italy - - - - - retinal disease - 1 1 LOVD
00407132 F189 (II-1) PubMed: Otto 2005 family F189, individual II-1 ? yes Germany - - - - - retinal disease - 1 1 LOVD
00407133 F64 (II-3) PubMed: Otto 2005 family F64, individual II-3 ? no - North Africa - - - - retinal disease - 1 1 LOVD
00407134 F1146 (II-1) PubMed: Otto 2005 family F1146, individual II-1 ? yes Belgium - - - - - retinal disease - 1 1 LOVD
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