All individuals with variants in gene NOTCH2

49 entries on 1 page. Showing entries 1 - 49.
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00081092 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - ALGS-2 Alagille syndrome 2 (OMIM:610205) 1 1 Daniel Trujillano
00152003 - - - - - - - - 0 - - CRS unicoronal synostosis, left (HP:0011315) 2 1 Anshuman Sewda
00181215 - - - F - - - - 0 - - - HP:0001518 (Small for gestational age) 1 1 Gunnar Schmidt
00207986 - - - M - - - - 0 - - - HP:0001999 (Abnormal facial shape) 1 1 Gunnar Schmidt
00229450 - - - F - - - - 0 - - ? Serpentine fibula-polycystic kidney syndrome 1 1 Cedric Le Caignec
00229451 - - - - - - - - 0 - - ? Serpentine fibula-polycystic kidney syndrome 1 1 Cedric Le Caignec
00229452 - - mother and affected son F - - - - 0 - - ALGS - 1 1 LOVD
00229453 - - mother and affected son M - - - - 0 - - ALGS - 1 1 LOVD
00229454 - - grandmother, mother and daugther F - - - - 0 - - ALGS - 1 1 LOVD
00229455 - - grandmother, mother and daugther F - - - - 0 - - ALGS - 1 1 LOVD
00229456 - - grandmother, mother and daugther F - - - - 0 - - ALGS - 1 1 LOVD
00229457 - - family, 3 affecteds ? - - - - 0 - - HJCYS - 1 3 LOVD
00229458 - - - ? - - - - 0 - - HJCYS - 1 1 LOVD
00229459 - - - ? - - - - 0 - - HJCYS - 1 1 LOVD
00229460 - - - ? - - - - 0 - - HJCYS - 1 1 LOVD
00229461 - - family, 2 affecteds ? - - - - 0 - - HJCYS - 1 2 LOVD
00229462 - - - ? - - - - 0 - - HJCYS - 1 1 LOVD
00229463 - - - ? - - - - 0 - - HJCYS - 1 1 LOVD
00229464 - - family, 3 affecteds ? - - - - 0 - - HJCYS - 1 3 LOVD
00229465 - - family, 3 affecteds ? - - - - 0 - - HJCYS - 1 3 LOVD
00229466 - - - ? - - - - 0 - - HJCYS - 1 1 LOVD
00229467 - - - ? - - - - 0 - - HJCYS - 1 1 LOVD
00229468 - - - ? - - - - 0 - - HJCYS - 1 1 LOVD
00229469 - - - ? - - - - 0 - - HJCYS - 1 1 LOVD
00229470 - - family, 2 affecteds ? - - - - 0 - - HJCYS - 1 2 LOVD
00229471 - - - M - - - - 0 - - HJCYS - 1 1 LOVD
00229472 - - - F - - - - 0 - - HJCYS - 1 1 LOVD
00229473 - - - M - - - - 0 - - HJCYS - 1 1 LOVD
00229474 - - family 4 affecteds M - - - - 0 - - HJCYS - 1 1 LOVD
00229475 - - family 4 affecteds M - - - - 0 - - HJCYS - 1 1 LOVD
00229476 - - family 4 affecteds F - - - - 0 - - HJCYS - 1 1 LOVD
00229477 - - family 4 affecteds M - - - - 0 - - HJCYS - 1 1 LOVD
00229478 - - family, 2 affecteds F - - - - 0 - - HJCYS - 1 1 LOVD
00229479 - - family, 2 affecteds F - - - - 0 - - HJCYS - 1 1 LOVD
00289503 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00289504 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 13 Mohammed Faruq
00289505 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 5 Mohammed Faruq
00307431 Fam7PatLP63 PubMed: Stalke 2018 - - - Germany - - 0 - - ALGS only few clinical symptoms (face, neonatal cholestasis, failure to thrive) 1 1 Johan den Dunnen
00307448 Fam22PatLP77 PubMed: Stalke 2018 - - - Germany - - 0 - - ALGS neonatal cholestasis with raised gamma-glutamyltransferase, no other ALGS symptoms 1 1 Johan den Dunnen
00307449 Fam23PatLP82 PubMed: Stalke 2018 - - - Germany - - 0 - - ALGS neonatal cholestasis with raised gamma-glutamyltransferase, no other ALGS symptoms 1 1 Johan den Dunnen
00307450 Fam24PatLP112 PubMed: Stalke 2018 - - - Germany - - 0 - - ALGS 0nly few clinical symptoms (neonatal cholestasis, failure to thrive) 1 1 Johan den Dunnen
00307451 Fam25PatLP132 PubMed: Stalke 2018 - - - Germany - - 0 - - ALGS clinically syndromal biliary atresia (Heterotaxy syndrome) 1 1 Johan den Dunnen
00307645 Pat24 PubMed: Ohashi 2017 - M - Japan - - 0 - - ALGS see paper; ... 1 1 Johan den Dunnen
00307647 NCU11 PubMed: Togawa 2016 - M - Japan - - 0 - - ALGS see paper; ... 1 1 Johan den Dunnen
00307852 Pat19 PubMed: Lin 2012 - - - Viet Nam - - 0 - - ALGS - 1 1 Johan den Dunnen
00314889 Trio67 PubMed: Zhu 2015 - M - Israel - - 0 - - ? Multiple organ involvement, including severe skeletal deformities, dysmorphism (exophthalmos, low set ears), bilateral hearing impairment, subaortic stenosis, polycystic kidneys and hydrocephalus (Chiari malformation), multiple bowel obstruction requiring laparotomy; tracheostomy; ventriculoperitoneal shunt insertion. cognition normal. 1 1 Johan den Dunnen
00316134 K190 PubMed: Heidet 2017 affected patient and 1st degree relative (deafness) - - France - - 0 - - CAKUT renal hypoplasia; renal dysplasia; cysts 3 2 Johan den Dunnen
00316150 K32 PubMed: Heidet 2017 fetus - - France - - 0 - - CAKUT renal hypoplasia 1 1 Johan den Dunnen
00316171 K70 PubMed: Heidet 2017 fetus - - France - - 0 - - CAKUT bilateral multicystic dysplasia 1 1 Johan den Dunnen
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