All individuals with variants in gene BBS12

147 entries on 2 pages. Showing entries 1 - 100.
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Age at death     

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00000019 - PubMed: Almomani 2011 - - - - - - 0 - - autism, BMD/DMD, TSC - 1 1 Global Variome, with Curator vacancy
00034032 - PubMed: Waters 2015, Journal: Waters 2015 - - - - - - 0 - - BBS - 2 1 Johan den Dunnen
00034033 - PubMed: Waters 2015, Journal: Waters 2015 - - - - - - 0 - - BBS - 2 1 Johan den Dunnen
00100116 61274 PubMed: Li 2017 - M yes Pakistan Pakistani - 0 - - retinal disease RP, deafness 1 1 James Hejtmancik
00293533 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 14 Mohammed Faruq
00293534 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00299641 FamGC3626Pat2 PubMed: Arno 2017 2-generation family, 1 affeted M - - - - 0 - - retinal disease see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90 1 1 Johan den Dunnen
00332219 JB42 PubMed: Bryant 2018 - - - United States - - 0 - - retinal disease - 1 1 LOVD
00333356 Pat16 PubMed: Costa 2017 - M - Brazil - - 0 - - retinal disease see paper; ... 1 1 LOVD
00333358 Pat8 PubMed: Costa 2017 - M - Brazil - - 0 - - retinal disease see paper; ... 1 1 LOVD
00335086 706Z PubMed: Haer-Wigman 2017 patient - no Netherlands - - 0 - - ? Bardet Biedl-like syndrome; 16y-diagnosis visual impairment 2 1 LOVD
00335332 Pat96 PubMed: Bravo-Gil 2017 - - - Spain - - 0 - - retinal disease see paper; ... 1 1 Nereida Bravo Gil
00358967 Case71315 PubMed: Tiwari 2016 see paper M - Switzerland - - 0 - - retinal disease see paper; ... 1 1 LOVD
00359027 10001098 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - 0 - - retinal disease - 1 1 LOVD
00379370 - PubMed: Harville-2010 - - yes Turkey - - 0 - - retinal disease Retinitis pigmentosa, polydactyly, obesity 1 1 LOVD
00379371 - PubMed: Harville-2010 - - yes Pakistan - - 0 - - retinal disease Retinitis pigmentosa, polydactyly, hypogonadism, renal anomalies 1 1 LOVD
00379372 - PubMed: Harville-2010 - - yes Pakistan - - 0 - - retinal disease Retinitis pigmentosa, polydactyly, hypogonadism, renal anomalies 1 1 LOVD
00382487 349 PubMed: Jespersgaar 2019 - ? - Denmark - - 0 - - retinal disease - 1 1 LOVD
00382488 350 PubMed: Jespersgaar 2019 - ? - Denmark - - 0 - - retinal disease - 1 1 LOVD
00382803 - PubMed: Song-2011 - F - - - - 0 - - retinal disease - 1 1 LOVD
00383069 - PubMed: Anasagasti-2013 - - - Spain - - 0 - - retinal disease - 1 1 LOVD
00383100 - PubMed: Anasagasti-2013 - - - Spain - - 0 - - retinal disease - 1 1 LOVD
00383140 - PubMed: Sathya Priya-2015 - - - - - - 0 - - retinal disease obesity, polydactyly 1 1 LOVD
00383151 - PubMed: Sathya Priya-2015 - - - - - - 0 - - retinal disease obesity, polydactyly, learning disability 1 1 LOVD
00383271 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - - - white - 0 - - retinal disease - 2 2 LOVD
00383272 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - - - white - 0 - - retinal disease - 2 1 LOVD
00383273 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - - - North Africa - 0 - - retinal disease - 1 1 LOVD
00383274 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - - - white - 0 - - retinal disease - 1 1 LOVD
00383275 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - - - Gypsy - 0 - - retinal disease - 1 5 LOVD
00383276 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - - - white - 0 - - retinal disease - 1 2 LOVD
00383277 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - - - North Africa - 0 - - retinal disease - 1 1 LOVD
00383278 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - - - white - 0 - - retinal disease - 2 1 LOVD
00383279 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - - - white - 0 - - retinal disease - 2 1 LOVD
00383280 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - - - white - 0 - - retinal disease - 1 1 LOVD
00383300 - PubMed: Duelund Hjortshoj-2010 - F - - - - 0 - - retinal disease RP, retinitis pigmentosa; PAP, postaxial polydactyly; MR, mental retardation; Renal, both structurally and functionally renal anomalies 1 1 LOVD
00383301 - PubMed: Duelund Hjortshoj-2010 - M - - - - 0 - - retinal disease RP, retinitis pigmentosa; PAP, postaxial polydactyly; MR, mental retardation; Hypogenitalism 1 1 LOVD
00383302 - PubMed: Duelund Hjortshoj-2010 - - - - - - 0 - - retinal disease - 2 1 LOVD
00383318 - PubMed: Duelund Hjortshoj-2010 - - - - - - 0 - - retinal disease - 1 1 LOVD
00383319 - PubMed: Duelund Hjortshoj-2010 - - - - - - 0 - - retinal disease - 1 1 LOVD
00383324 - PubMed: Pereiro-2010 - M - Spain white - 0 - - retinal disease night blindness, obesity, mental delay, polydactyly (left-foot) 1 1 LOVD
00383325 - PubMed: Pereiro-2010 - M - Spain white - 0 - - retinal disease night blindness, obesity, mental delay, polydactyly 1 1 LOVD
00383326 - PubMed: Pereiro-2010 - F - Spain white - 0 - - retinal disease night blindness, obesity, mental delay, polydactyly 1 1 LOVD
00383327 - PubMed: Pereiro-2010 - F - Spain white - 0 - - retinal disease - 1 1 LOVD
00383328 - PubMed: Pereiro-2010 - M - Spain white - 0 - - retinal disease - 1 1 LOVD
00383655 4 PubMed: Manara 2019 - F - - - - 0 - - retinal disease - 1 1 LOVD
00383657 6 PubMed: Manara 2019 - F - - - - 0 - - retinal disease - 1 1 LOVD
00383660 9 PubMed: Manara 2019 - F - - - - 0 - - retinal disease - 1 1 LOVD
00383840 - PubMed: Hariri 2018 - ? - - - - 0 - - retinal disease BCVA OD-OS: 20/50-20/60 2 1 LOVD
00384605 FC51: II.2 PubMed: Jaffal 2019 - F no Lebanon - - 0 - - retinal disease Visual acuity: 20/100–20/1 2 1 LOVD
00384701 - PubMed: Feuillan-2011 - - - - - - 0 - - retinal disease - 2 1 LOVD
00384702 - PubMed: Feuillan-2011 - - - - - - 0 - - retinal disease - 1 1 LOVD
00384703 - PubMed: Feuillan-2011 - - - - - - 0 - - retinal disease - 1 1 LOVD
00384714 - PubMed: Billingsley-2010 - F - - Turkish - 0 - - retinal disease digit anomaly, moderate cognitive impairment 1 1 LOVD
00384716 - PubMed: Billingsley-2010 - M - - South African Black - 0 - - retinal disease weight anomalies, digit anomaly 1 1 LOVD
00384717 - PubMed: Billingsley-2010 - M - - South African Black - 0 - - retinal disease weight anomalies, digit anomaly, moderate cognitive impairment 2 1 LOVD
00384718 - PubMed: Billingsley-2010 - F - - South African Black - 0 - - retinal disease weight anomalies, digit anomaly, severe cognitive impairment 1 1 LOVD
00384719 - PubMed: Billingsley-2010 - M - - South African Black - 0 - - retinal disease weight anomalies, digit anomaly, moderate cognitive impairment 1 1 LOVD
00384720 - PubMed: Billingsley-2010 - M - - South African Black - 0 - - retinal disease weight anomalies, digit anomaly 1 1 LOVD
00384726 - PubMed: Billingsley-2010 - - - - Egyptian - 0 - - retinal disease phenotypes overlapping with MKKS and ALMS (non-alcoholic, steatohepatitis, gynaecomasty, asthma, cryptorchidism, scoliosis, osteopenia, gum disease and endocrine anomalies) 2 1 LOVD
00384727 - PubMed: Billingsley-2010 - - - - Pakistani - 0 - - retinal disease - 1 1 LOVD
00384728 - PubMed: Billingsley-2010 - F - - West African - 0 - - retinal disease polydactyly of two limbs, congenital heart disease, genitourinary sinus anomalies and distal vaginal stenosis with secondary hydrocolpos and hydronephrosis at birth, digit anomaly, combined BBS/MKKS phenotype 2 1 LOVD
00384732 - PubMed: Billingsley-2010 - F - - Canadian Native Indian (Dene) - 0 - - retinal disease weight anomalies, digit anomaly 1 1 LOVD
00384733 - PubMed: Billingsley-2010 - - - - Canadian Native Indian (Dene) - 0 - - retinal disease - 1 1 LOVD
00384734 - PubMed: Billingsley-2010 - M - - Canadian Native Indian (Dene) - 0 - - retinal disease - 1 1 LOVD
00384832 - PubMed: Abu-Safieh-2012 2 unaffected siblings screened - yes Saudi Arabia Arab - 0 - - retinal disease obesity, polydactyly, hydrometrocolpos 1 1 LOVD
00384833 - PubMed: Abu-Safieh-2012 2 unaffected siblings screened - yes Saudi Arabia Arab - 0 - - retinal disease obesity, polydactyly, hydrometrocolpos 1 1 LOVD
00384834 - PubMed: Abu-Safieh-2012 2 unaffected siblings screened - yes Saudi Arabia Arab - 0 - - retinal disease obesity, polydactyly 1 1 LOVD
00385156 41 PubMed: Jiman 2020 - F - (United Kingdom (Great Britain)) - - 0 - - retinal disease HP:0000556 Retinal dystrophy; HP:0010442 Polydactyly; HP:0001249 Intellectual disability; HP:0001513 Obesity; HP:0000750 Delayed speech and language development; HP:0000662 Nyctalopia; HP:0011003 Severe Myopia; 1 1 LOVD
00385181 - PubMed: Chen-2011 - - - - white - 0 - - retinal disease - 1 1 LOVD
00385186 - PubMed: Chen-2011 - - - - white - 0 - - retinal disease - 2 1 LOVD
00385222 - PubMed: Chen-2011 - - - - Tunisian - 0 - - retinal disease - 2 1 LOVD
00385262 - PubMed: Schaefer-2011 - - - France french - 0 - - retinal disease Polydactyly, kidney features, , hydrometrocolpos with bleeding, urogenital sinus 1 1 LOVD
00385313 - PubMed: Imhoff-2011 additional mutation - - - Ghanian - 0 - - retinal disease - 1 1 LOVD
00385314 - PubMed: Imhoff-2011 additional mutation - yes - Dene - 0 - - retinal disease - 2 1 LOVD
00385315 - PubMed: Imhoff-2011 novel, No principal mutations. - - - Grenadian - 0 - - retinal disease - 1 1 LOVD
00385316 - PubMed: Imhoff-2011 novel, No principal mutations. - - - Grenadian - 0 - - retinal disease - 1 1 LOVD
00385326 - PubMed: Deveault-2011 - - - - English/Irish/Scottish - 0 - - retinal disease - 1 1 LOVD
00385332 - PubMed: Deveault-2011 novel - - - white - 0 - - retinal disease - 1 1 LOVD
00385362 - PubMed: Deveault-2011 - F yes - Pakistani - 0 - - retinal disease weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Heart anomalyTeeth crowding, Dysmorphic 1 1 LOVD
00385365 - PubMed: Deveault-2011 novel - yes - Somalian - 0 - - retinal disease - 2 1 LOVD
00385374 - PubMed: Deveault-2011 - - - - South African Black - 0 - - retinal disease - 2 1 LOVD
00385375 - PubMed: Deveault-2011 - - - - Danish/Dutch/Norwegian - 0 - - retinal disease - 1 1 LOVD
00385376 - PubMed: Deveault-2011 - F - - South African Black - 0 - - retinal disease retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, Heart anomaly, Dislipidemia, HyperinsulinemiaHydrometrocolpos 2 1 LOVD
00385377 - PubMed: Deveault-2011 - M - - El-Salvadorian - 0 - - retinal disease retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, Hearing abn, DiabetesDepression, Emotional lability, Teeth 1 1 LOVD
00385378 - PubMed: Deveault-2011 - M - - white - 0 - - retinal disease distended abdomen and post-axial polydactyly type A of hands and feet, diffuse cystic renal dysplasia with a preserved nephro genesis and an expanded medulla with dilated dysplastic collecting ducts, hydronephrosis, and dilated ureters and bladder due to obstruction by the hydrometrocolpos 2 1 LOVD
00385379 - PubMed: Deveault-2011 - F - - white - 0 - - retinal disease distended abdomen and post-axial polydactyly type A of hands and feet, diffuse cystic renal dysplasia with a preserved nephro genesis and an expanded medulla with dilated dysplastic collecting ducts, hydronephrosis, and dilated ureters and bladder due to obstruction by the hydrometrocolpos 2 1 LOVD
00385380 - PubMed: Deveault-2011 - F - - white - 0 - - retinal disease showedbilateraldiffuse cystic renal dysplasia with a relatively well-preserved nephrogenesis and an expanded medulla with dilated dysplastic collecting ducts 1 1 LOVD
00385381 - PubMed: Deveault-2011 - M - - French - 0 - - retinal disease - 1 1 LOVD
00385382 - PubMed: Deveault-2011 - F - - French - 0 - - retinal disease - 2 1 LOVD
00385383 - PubMed: Deveault-2011 - F - - French - 0 - - retinal disease - 1 1 LOVD
00385389 - PubMed: Dulfer-2010 - M - - French - 0 - - retinal disease - 2 1 LOVD
00385390 - PubMed: Dulfer-2010 - M - - French - 0 - - retinal disease - 2 1 LOVD
00385569 AR248(A2843)-05 PubMed: Janssen-2011 - - - - Northern-Europe - 0 - - retinal disease retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, renal anomalies, COM,SD 1 1 LOVD
00385604 A3227-II1 PubMed: Janssen-2011 - - - - - - 0 - - retinal disease - 1 1 LOVD
00385629 M333 PubMed: Alvarez-Satta-2014 - - - Spain Spanish - 0 - - retinal disease - 1 1 LOVD
00385630 B63 PubMed: Alvarez-Satta-2014 - - - Spain Spanish - 0 - - retinal disease - 2 1 LOVD
00385631 B179 PubMed: Alvarez-Satta-2014 - - - Spain Spanish - 0 - - retinal disease - 2 1 LOVD
00385632 FRPN65a PubMed: Alvarez-Satta-2014 - - - Spain Spanish - 0 - - retinal disease - 2 1 LOVD
00385633 FRPN15a PubMed: Alvarez-Satta-2014 - - - Spain Spanish - 0 - - retinal disease - 2 1 LOVD
00385634 GBB4 PubMed: Alvarez-Satta-2014 - - - Spain Spanish - 0 - - retinal disease - 2 1 LOVD
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