All individuals with variants in gene NOTCH2

54 entries on 1 page. Showing entries 1 - 54.
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00081092 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - ALGS2 Alagille syndrome 2 (OMIM:610205) 1 1 Daniel Trujillano
00152003 - - - - - - - - - - - CRS unicoronal synostosis, left (HP:0011315) 2 1 Anshuman Sewda
00181215 - - - F - - - - - - - - HP:0001518 (Small for gestational age) 1 1 Gunnar Schmidt
00207986 - - - M - - - - - - - - HP:0001999 (Abnormal facial shape) 1 1 Gunnar Schmidt
00229450 - - - F - - - - - - - ? Serpentine fibula-polycystic kidney syndrome 1 1 Cedric Le Caignec
00229451 - - - - - - - - - - - ? Serpentine fibula-polycystic kidney syndrome 1 1 Cedric Le Caignec
00229452 - - mother and affected son F - - - - - - - ALGS1 - 1 1 LOVD
00229453 - - mother and affected son M - - - - - - - ALGS1 - 1 1 LOVD
00229454 - - grandmother, mother and daugther F - - - - - - - ALGS1 - 1 1 LOVD
00229455 - - grandmother, mother and daugther F - - - - - - - ALGS1 - 1 1 LOVD
00229456 - - grandmother, mother and daugther F - - - - - - - ALGS1 - 1 1 LOVD
00229457 - - family, 3 affecteds ? - - - - - - - HJCYS - 1 3 LOVD
00229458 - - - ? - - - - - - - HJCYS - 1 1 LOVD
00229459 - - - ? - - - - - - - HJCYS - 1 1 LOVD
00229460 - - - ? - - - - - - - HJCYS - 1 1 LOVD
00229461 - - family, 2 affecteds ? - - - - - - - HJCYS - 1 2 LOVD
00229462 - - - ? - - - - - - - HJCYS - 1 1 LOVD
00229463 - - - ? - - - - - - - HJCYS - 1 1 LOVD
00229464 - - family, 3 affecteds ? - - - - - - - HJCYS - 1 3 LOVD
00229465 - - family, 3 affecteds ? - - - - - - - HJCYS - 1 3 LOVD
00229466 - - - ? - - - - - - - HJCYS - 1 1 LOVD
00229467 - - - ? - - - - - - - HJCYS - 1 1 LOVD
00229468 - - - ? - - - - - - - HJCYS - 1 1 LOVD
00229469 - - - ? - - - - - - - HJCYS - 1 1 LOVD
00229470 - - family, 2 affecteds ? - - - - - - - HJCYS - 1 2 LOVD
00229471 - - - M - - - - - - - HJCYS - 1 1 LOVD
00229472 - - - F - - - - - - - HJCYS - 1 1 LOVD
00229473 - - - M - - - - - - - HJCYS - 1 1 LOVD
00229474 - - family 4 affecteds M - - - - - - - HJCYS - 1 1 LOVD
00229475 - - family 4 affecteds M - - - - - - - HJCYS - 1 1 LOVD
00229476 - - family 4 affecteds F - - - - - - - HJCYS - 1 1 LOVD
00229477 - - family 4 affecteds M - - - - - - - HJCYS - 1 1 LOVD
00229478 - - family, 2 affecteds F - - - - - - - HJCYS - 1 1 LOVD
00229479 - - family, 2 affecteds F - - - - - - - HJCYS - 1 1 LOVD
00289503 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00289504 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 13 Mohammed Faruq
00289505 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00307142 Patient 06 PubMed: Mendonca 2021 - M - Brazil - - - - - RB1 Unilateral 2 1 Vanessa Mendonça
00307258 Patient 64 PubMed: Mendonca 2021 patient with retinoblastoma M - Brazil - - - - - RB1 Bilateral 1 1 Vanessa Mendonça
00307259 Patient 66 PubMed: Mendonca 2021 - F - Brazil - - - - - RB1 Unilateral 1 1 Vanessa Mendonça
00307431 Fam7PatLP63 PubMed: Stalke 2018 - - - Germany - - - - - ALGS1 only few clinical symptoms (face, neonatal cholestasis, failure to thrive) 1 1 Johan den Dunnen
00307448 Fam22PatLP77 PubMed: Stalke 2018 - - - Germany - - - - - ALGS1 neonatal cholestasis with raised gamma-glutamyltransferase, no other ALGS symptoms 1 1 Johan den Dunnen
00307449 Fam23PatLP82 PubMed: Stalke 2018 - - - Germany - - - - - ALGS1 neonatal cholestasis with raised gamma-glutamyltransferase, no other ALGS symptoms 1 1 Johan den Dunnen
00307450 Fam24PatLP112 PubMed: Stalke 2018 - - - Germany - - - - - ALGS1 0nly few clinical symptoms (neonatal cholestasis, failure to thrive) 1 1 Johan den Dunnen
00307451 Fam25PatLP132 PubMed: Stalke 2018 - - - Germany - - - - - ALGS1 clinically syndromal biliary atresia (Heterotaxy syndrome) 1 1 Johan den Dunnen
00307645 Pat24 PubMed: Ohashi 2017 - M - Japan - - - - - ALGS1 see paper; ... 1 1 Johan den Dunnen
00307647 NCU11 PubMed: Togawa 2016 - M - Japan - - - - - ALGS1 see paper; ... 1 1 Johan den Dunnen
00307852 Pat19 PubMed: Lin 2012 - - - Viet Nam - - - - - ALGS1 - 1 1 Johan den Dunnen
00314889 Trio67 PubMed: Zhu 2015 - M - Israel - - - - - ? 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 - - - - - CAKUT renal hypoplasia; renal dysplasia; cysts 3 2 Johan den Dunnen
00316150 K32 PubMed: Heidet 2017 fetus - - France - - - - - CAKUT renal hypoplasia 1 1 Johan den Dunnen
00316171 K70 PubMed: Heidet 2017 fetus - - France - - - - - CAKUT bilateral multicystic dysplasia 1 1 Johan den Dunnen
00412961 201596 - prenatal trio exome after ultrasound abnormalities ? - Turkey - - - - - HJCYS Hydrops fetalis, Microcephaly, Fetal neck anomaly 1 1 Andreas Laner
00435506 Pat24 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, brother 5y-macrocephaly, speech apraxia, fine motor delay; brother 11y-speech delay (has not KDM6B variant) F - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 40w; 9m-first words; gross motor delay, 18-19m-first steps ; no intellectual disability; aggressive behavior, noncompliance, physical aggression, poor play skills; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; tethered spinal cord; 4y-MRI brain normal; no joint hypermobility; no syndactyly; scoliosis; abnormalities hand/foot/finger; no pectus excavatum; macrocephaly with frontal prominence, hypertelorism, deep-set and long and prominent eyelashes, overfolded ears, prognathism with lower diastema); no lip/cleft palate; congenital heart disease (pulmonary stenosis that resolved by 3y); 3y-ECG minimally dilated main and branch pulmonary arteries; neonatal feeding difficulties; gastroesophageal reflux; constipation; eosinophilic esophagitis; no skin hyperlaxity; no genitourinary abnormalities 1 1 Johan den Dunnen
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