All individuals with variants in gene MKKS

95 entries on 1 page. Showing entries 1 - 95.
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00060204 - - 1 familie, 3 patients M yes Spain Hispanic - 0 - - BBS retinitis pigmentosa, postaxial polydactyly, weight gain anomaly, learning disabilities, kidney cysts, poor coordination 2 1 María González-del Pozo
00165229 - - - F yes Spain - - 0 - - BBS - 1 1 Sheila Castro-Sánchez
00276325 - - - F yes Turkey - 00y17m 0 - - BBS-6 Polydactyly Renal abnormalities Genital abnormalities Dental abnormalities Facial dysmorphism 1 1 Evren Gümüş
00292863 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00292864 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00292865 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00309639 FamilyPat501 PubMed: Khan 2016 5-generation family, 8 affected (5F, 3M), unaffected heterozygous carrier parents/relatives F yes Pakistan - - 0 - - retinal disease see paper; ... 1 8 Johan den Dunnen
00309641 FamilyPat503 PubMed: Khan 2016 - M yes Pakistan - - 0 - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309642 FamilyPat505 PubMed: Khan 2016 - F yes Pakistan - - 0 - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309643 FamilyPat507 PubMed: Khan 2016 - F yes Pakistan - - 0 - - retinal disease see paper; ... 1 1 Johan den Dunnen
00309645 FamilyPat509 PubMed: Khan 2016 - M yes Pakistan - - 0 - - retinal disease see paper; ... 1 1 Johan den Dunnen
00318008 PKMR224 PubMed: Riazuddin 2017 - - yes Pakistan - - 0 - - ID Moderate ID, speech delay, strabismus, retinitis pigmentosa, polydactyly, obesity. 1 1 Johan den Dunnen
00332190 JB9 PubMed: Bryant 2018 - - - United States - - 0 - - retinal disease - 1 1 LOVD
00333365 Pat7 PubMed: Costa 2017 - F - Brazil - - 0 - - retinal disease see paper; ... 1 1 LOVD
00334089 618 PubMed: Stone 2017 family, 2 affected M - (United States) - - 0 - - retinal disease clinical category IB2 2 2 LOVD
00334090 619 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - retinal disease clinical category IB2 1 1 LOVD
00358807 AR800-03 PubMed: Lindstrand 2016 - M no United States - - 0 - - BBS see paper; ... 1 1 LOVD
00358964 Case72007 PubMed: Tiwari 2016 see paper M - Switzerland - - 0 - - retinal disease see paper; ... 1 1 LOVD
00358972 Case70559 PubMed: Tiwari 2016 see paper M - Switzerland - - 0 - - retinal disease see paper; ... 1 1 LOVD
00358977 Case25939 PubMed: Tiwari 2016 see paper M - Switzerland - - 0 - - retinal disease see paper; ... 1 1 LOVD
00358980 Case71094 PubMed: Tiwari 2016 see paper M - Switzerland - - 0 - - retinal disease see paper; ... 1 1 LOVD
00363647 11DG1165 PubMed: Patel 2016 - - - Saudi Arabia - - 0 - - retinal disease non-syndromic 1 1 LOVD
00375422 RP#015 PubMed: Katagiri 2014 family - - Japan - - 0 - - retinal disease see paper; ... 1 1 LOVD
00380358 - PubMed: Mhamdi_2013 - F yes Tunisia Tunisian - 0 - - retinal disease retinitis pigmentaria 1 1 LOVD
00380364 - PubMed: Mhamdi_2013 - F yes Tunisia Tunisian - 0 - - retinal disease retinitis pigmentaria 1 1 LOVD
00382325 154 PubMed: Jespersgaar 2019 - ? - Denmark - - 0 - - retinal disease - 2 1 LOVD
00382563 425 PubMed: Jespersgaar 2019 - ? - Denmark - - 0 - - retinal disease - 1 1 LOVD
00382894 - PubMed: Katsanis-2001 - - - - - - 0 - - retinal disease retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD), developmental delay (Dev), gonadal and renal malformations 1 1 LOVD
00382895 - PubMed: Katsanis-2001 - - - - - - 0 - - retinal disease retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD), developmental delay (Dev), gonadal and renal malformations 1 1 LOVD
00382896 - PubMed: Katsanis-2001 - - - - - - 0 - - retinal disease retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD), developmental delay (Dev), gonadal and renal malformations 1 1 LOVD
00382898 - PubMed: Katsanis-2001 two BBS2 mutations found in unaffected individuals - - - - - 0 - - retinal disease retinitis pigmentosa (RP), obesity (Ob), polydactyly (PD) and renal malformations (Ren) 1 1 LOVD
00383058 - PubMed: Anasagasti-2013 - - - Spain - - 0 - - retinal disease - 3 1 LOVD
00383081 - PubMed: Anasagasti-2013 - - - Spain - - 0 - - retinal disease - 3 1 LOVD
00383113 - PubMed: Hichri-2005 - - - France Caucasian - 0 - - retinal disease - 2 1 LOVD
00383114 - PubMed: Hichri-2005 - - - France Caucasian - 0 - - retinal disease - 1 1 LOVD
00383115 - PubMed: Hichri-2005 - - - France Caucasian - 0 - - retinal disease - 1 1 LOVD
00383116 - PubMed: Hichri-2005 - - - France Caucasian - 0 - - retinal disease - 1 1 LOVD
00383133 - PubMed: Sathya Priya-2015 - - - - - - 0 - - retinal disease learning disability, polydactyly 1 1 LOVD
00383149 - PubMed: Sathya Priya-2015 - - - - - - 0 - - retinal disease obesity, hypogonadism, learning disability 2 1 LOVD
00383154 - PubMed: Sathya Priya-2015 - - - - - - 0 - - retinal disease obesity, hypogonadism, learning disability 2 1 LOVD
00383213 - PubMed: Muller-2010, Katsanis 2000 - - - - Caucasian - 0 - - retinal disease - 1 1 LOVD
00383238 - PubMed: Muller-2010, Stone 2000 - - - - Caucasian - 0 - - retinal disease - 1 1 LOVD
00383239 - PubMed: Muller-2010, Stone 2000 - - - - Caucasian - 0 - - retinal disease - 2 1 LOVD
00383240 - PubMed: Muller-2010 - - - - Caucasian - 0 - - retinal disease - 1 2 LOVD
00383285 - 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
00383286 - PubMed: Duelund Hjortshoj-2010 - M - - - - 0 - - retinal disease RP, retinitis pigmentosa; PAP, postaxial polydactyly; MR, mental retardation; Renal, both structurally and functionally renal anomalies 1 1 LOVD
00383287 - PubMed: Duelund Hjortshoj-2010 - - - - - - 0 - - retinal disease - 1 1 LOVD
00383295 - PubMed: Duelund Hjortshoj-2010 - M - - - - 0 - - retinal disease RP, retinitis pigmentosa; PAP, postaxial polydactyly; MR, mental retardation; Renal, both structurally and functionally renal anomalies; Hypogenitalism 1 1 LOVD
00383296 - PubMed: Duelund Hjortshoj-2010 - M - - - - 0 - - retinal disease RP, retinitis pigmentosa; PAP, postaxial polydactyly; MR, mental retardation 1 1 LOVD
00383322 - PubMed: Pereiro-2010 - F - Spain Caucasian - 0 - - retinal disease night blindness, obesity, mental delay, polydactyly 1 1 LOVD
00383323 - PubMed: Pereiro-2010 - F - Spain Caucasian - 0 - - retinal disease night blindness, obesity, mental delay, polydactyly (left-hand) 1 1 LOVD
00383330 - PubMed: Badano-2003 - F no - Caucasian / northern European - 0 - - retinal disease - 1 1 LOVD
00383345 - PubMed: Hoskins-2003 - - - - - - 0 - - retinal disease - 1 1 LOVD
00383346 - PubMed: Hoskins-2003 - - - - - - 0 - - retinal disease - 1 1 LOVD
00383360 - PubMed: Fauser-2003 - - no - European - 0 - - retinal disease - 2 1 LOVD
00383361 - PubMed: Fauser-2003 - - no - European - 0 - - retinal disease - 1 1 LOVD
00383362 - PubMed: Eichers-2009, Beales 2003 - - - - - - 0 - - retinal disease - 1 1 LOVD
00383363 - PubMed: Eichers-2009, Beales 2003 both affected individuals have inherited two BBS1 mutant alleles (one missesnse and one frameshift) but only one of the two carries a third mutant allele of BBS6 (missense). - - - - - 0 - - retinal disease - 1 1 LOVD
00383367 - PubMed: Eichers-2009, Beales 2003 - - - - - - 0 - - retinal disease - 1 1 LOVD
00383369 - PubMed: Eichers-2009, Beales 2003 - - - - - - 0 - - retinal disease - 1 1 LOVD
00383370 - PubMed: Eichers-2009, Katsanis 2001 - - - - - - 0 - - retinal disease - 1 1 LOVD
00383371 - PubMed: Eichers-2009, Katsanis 2001 - - - - - - 0 - - retinal disease - 1 1 LOVD
00383374 - PubMed: Eichers-2009, Katsanis 2002 - - - - - - 0 - - retinal disease - 1 1 LOVD
00383466 RP1573 PubMed: Castro-Sanchez 2019 - F - Spain Caucasian - 0 - - retinal disease - 1 1 LOVD
00383663 12 PubMed: Manara 2019 - F - - - - 0 - - retinal disease - 1 1 LOVD
00384678 - PubMed: Feuillan-2011 - - - - - - 0 - - retinal disease - 2 1 LOVD
00384679 - PubMed: Feuillan-2011 - - - - - - 0 - - retinal disease - 2 1 LOVD
00384680 - PubMed: Feuillan-2011 - - - - - - 0 - - retinal disease - 1 1 LOVD
00384704 - PubMed: Billingsley-2010 - M - - Portuguese - 0 - - retinal disease weight anomalies, digit anomaly 1 1 LOVD
00384705 - PubMed: Billingsley-2010 - M - - Newfoundland - 0 - - retinal disease weight anomalies, digit anomaly, severe cognitive impairment 1 1 LOVD
00384706 - PubMed: Billingsley-2010 - F - - French-Canadian - 0 - - retinal disease weight anomalies, digit anomaly 1 1 LOVD
00384707 - PubMed: Billingsley-2010 - M - - Arabic - 0 - - retinal disease weight anomalies, digit anomaly 1 1 LOVD
00384713 - PubMed: Billingsley-2010 - F - - Irish - 0 - - retinal disease weight anomalies, digit anomaly 1 1 LOVD
00384723 - PubMed: Billingsley-2010 - F - - British - 0 - - retinal disease weight anomalies, digit anomaly 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 1 1 LOVD
00384823 - PubMed: Abu-Safieh-2012 2 unaffected siblings screened - yes Saudi Arabia Arab - 0 - - retinal disease obesity, mental retardation, renal disease, polydactyly, typical facies, ventricular septal defect 1 1 LOVD
00384824 - PubMed: Abu-Safieh-2012 2 unaffected siblings screened - yes Saudi Arabia Arab - 0 - - retinal disease obesity, mental retardation, renal disease, polydactyly, typical facies, ventricular septal defect 1 1 LOVD
00384827 - PubMed: Abu-Safieh-2012 2 unaffected siblings screened - yes Saudi Arabia Arab - 0 - - retinal disease obesity, polydactyly 1 1 LOVD
00385182 - PubMed: Chen-2011 - - - - Caucasian - 0 - - retinal disease - 1 1 LOVD
00385240 - PubMed: Redin-2012 - - - France - - 0 - - retinal disease - 1 1 LOVD
00385247 - PubMed: Redin-2012 - - - Tunisia - - 0 - - retinal disease - 1 1 LOVD
00385257 - PubMed: Schaefer-2011 - - - France french - 0 - - retinal disease Polydactyly, kidney features, retinitis pigmentosa, hydrometrocolpos, urogenital sinus malformation 2 1 LOVD
00385285 - PubMed: M'hamdi-2014 - F yes Tunisia Tunisian - 0 - - retinal disease obesity, retinitis pigmentosa, polydactyly, hypogenitalism,mental retardation 2 1 LOVD
00385306 - PubMed: Imhoff-2011 additional mutation - - - South African Black/European/Asian - 0 - - retinal disease - 2 1 LOVD
00385346 - PubMed: Deveault-2011 novel M - - Mexican/Norwegian/Danish - 0 - - retinal disease retinal dystrophy, weight anomaly, digit anomaly, renal structure anomaly, Liver str, Liver fx,Cryptochidism 1 1 LOVD
00385347 - PubMed: Deveault-2011 - M - - Ghanian - 0 - - retinal disease retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Liver str, Liver fx, Hearing abn, Heart anomaly, HBP, AsthmaCryptochidismHyperphagia, Teeth crowding, Sleep apnea, RTIs 1 1 LOVD
00385348 - PubMed: Deveault-2011 - M - - Spanish - 0 - - retinal disease retinal dystrophy, weight anomaly, digit anomaly, Diabetes, Heart anomaly, Asthma 1 1 LOVD
00385349 - PubMed: Deveault-2011 - F - - Spanish - 0 - - retinal disease retinal dystrophy, weight anomaly, digit anomaly, developmental delay, developmental delay, developmental delay, Abnormal genitaliaHyperphagia, OCD, ADD 1 1 LOVD
00385361 - PubMed: Deveault-2011 - F yes - Croatian - 0 - - retinal disease retinal dystrophy, weight anomaly, digit anomaly, cognitive impairement, developmental delay, developmental delay, developmental delay, renal structure anomaly, Scoliosis, HBP, DiabetesDepression, Hirsutism 1 1 LOVD
00385370 - PubMed: Deveault-2011 - F yes - Arabic - 0 - - retinal disease retinal dystrophy, weight anomaly, digit anomaly, 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 1 1 LOVD
00385583 AR850(A2878)-4 PubMed: Janssen-2011 - - - - Northern-Europe - 0 - - retinal disease retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, renal anomalies, AST,DD,MC,SD,SYN 1 1 LOVD
00385599 A786-II1 PubMed: Janssen-2011 - - - Macedonia - - 0 - - retinal disease postaxial polydactyly, obesity, hypogonadism, renal anomalies 1 1 LOVD
00385600 AR800(A2870)-03 PubMed: Janssen-2011 - - - - Northern-Europe - 0 - - retinal disease Retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism 1 1 LOVD
00385619 20NCE PubMed: de Castro-Miró-2014 - M - - - - 0 - - retinal disease - 1 3 LOVD
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