All individuals with variants in gene NEK1

40 entries on 1 page. Showing entries 1 - 40.
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00019893 - PubMed: Gilissen 2014 - ? ? - - - - - - ID - 1 1 Marianne Vos (LOVD-team)
00064295 FamPatVi2 PubMed: Monroe 2016, Journal: Monroe 2016 6-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Netherlands Dutch - - yes none MOHR;OFD2 incomplete midline lip, alveolar cleft (HP:0010289), Submucous cleft hard palate (HP:0000176), hyperplastic frenula, tongue hamartomas, general dental hypoplasia (HP:0006282), dental agenesis (HP:0000674), cupular shaped upper incisors, taurodontia (HP:0000679), maxillary hypoplasia (HP:0010650), protruding ears (HP:0000411), brachydactyly, clinodactyly digiti V (HP:0004209), bifid right hallux, broad left hallux, mild mesomeric limb shortening in lower limbs, progressive (mainly conductive) hearing loss (HP:0005101), bilateral tortuosity of the retinal veins (HP:0012841) 2 2 Glen Monroe
00064296 FamPatVi3 PubMed: Monroe 2016, Journal: Monroe 2016 - M yes Netherlands Dutch - - yes none MOHR;OFD2 incomplete midline lip, alveolar cleft (HP:0010289), submucous cleft hard palate (HP:0000176), bifid tongue with hyperplastic frenula, tongue hamartomas, general dental hypoplasia (HP:0006282), dental agenesis (HP:0000674), central incisors and cuspids with talon cusps, taurodontia (HP:0000679), maxillary hypoplasia (HP:0010650), brachydactyly, syndactyly of fingers, bilateral broad hallux, mild mesomeric limb shortening in lower limbs, mild conductivehearing loss, bilateral tortuosity of the retinal veins (HP:0012841) 2 1 Glen Monroe
00293578 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 6 Mohammed Faruq
00293579 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 59 Mohammed Faruq
00293580 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00293581 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00304988 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00326095 - - - F no Italy white >57y - - - ALS - 1 1 Serena Lattante
00326102 - - - F no Italy white >62y - - - ALS - 1 1 Serena Lattante
00326103 - - - M no Italy - 61y - - - ALS - 1 1 Serena Lattante
00326104 - - - M no Italy - >57y - - - ALS - 1 1 Serena Lattante
00326105 - - - F no Italy - >70y - - - ALS - 1 1 Serena Lattante
00326508 - - - M no Italy - 49y - - - ALS - 1 1 Serena Lattante
00326509 - - - M no Italy - >47y - - - ALS - 1 1 Serena Lattante
00326510 - - - M no Italy - >69y - - - ALS - 1 1 Serena Lattante
00326662 - - - M no Italy - 81y - - - ALS - 1 1 Serena Lattante
00326663 - - - M no Italy - >66y - - - ALS - 1 1 Serena Lattante
00326665 - - - M no Italy - >59y - - - ALS - 1 1 Serena Lattante
00326666 - - - M no Italy - >75y - - - ALS - 1 1 Serena Lattante
00326667 - - - M no Italy - >48y - - - ALS - 1 1 Serena Lattante
00326668 - - - M no Italy - - - - - ALS - 1 1 Serena Lattante
00326669 - - - M no Italy - >64y - - - ALS - 1 1 Serena Lattante
00326670 - - - M no Italy - >72y - - - ALS - 1 1 Serena Lattante
00326798 - - - M no Italy - 58y - - - ALS - 1 1 Serena Lattante
00326799 - - - M no Italy - 74y - - - ALS - 1 1 Serena Lattante
00326800 - - - M no Italy - >66y - - - ALS - 1 1 Serena Lattante
00331516 17DG0481, 17DG0482 PubMed: Maddirevula 2018 family, 2 affected (2M) M yes - Arab - - - - skeletal dysplasia Short stature, Global developmental delay, Low serum calcifediol, Periventricular leukomaNo 1 2 LOVD
00331517 12DG2382 PubMed: Maddirevula 2018 isolated case M no - Arab - - - - skeletal dysplasia Polyhydramnios, Dextrocardia, Bifid tongue, Natal tooth, Abnormality of the gingiva, GeneYes 1 1 LOVD
00380717 185159 - - M likely Turkey - - - - - SRTD6;SRPS2A prenatal ultrasound abnormalities: Short diaphyses, Ascites, Thickened nuchal skin fold, Hyperechogenic kidneys, Renal cyst, Atrioventricular canal defect, Bladder outlet obstruction 1 1 Andreas Laner
00388432 R02-449A PubMed: Zhang-2019 - - - - white - - - - ? polydactyly 2 1 LOVD
00388433 R04-510 PubMed: Zhang-2019 - - - - white - - - - ? - 2 1 LOVD
00388434 R05-304A PubMed: Zhang-2019 - - - - Latino - - - - ? polydactyly 2 1 LOVD
00388435 R08-159A PubMed: Zhang-2019 - - - - white - - - - ? polydactyly 2 1 LOVD
00388436 R96-291A PubMed: Zhang-2019 - - - - white - - - - ? polydactyly 2 1 LOVD
00388437 R97-145A PubMed: Zhang-2019 - - - - white - - - - ? - 1 1 LOVD
00388438 R98-463E PubMed: Zhang-2019 - - - - white - - - - ? polydactyly 2 1 LOVD
00388461 R03-092A PubMed: Zhang-2019 Unsolved case: biallelic causative mutations not identify - - - East Asian - - - - ? polydactyly 1 1 LOVD
00388462 R03-092D PubMed: Zhang-2019 Unsolved case: biallelic causative mutations not identify - - - East Asian - - - - ? polydactyly 1 1 LOVD
00388464 R02-109 PubMed: Zhang-2019 Unsolved case: biallelic causative mutations not identify - - - African American - - - - ? - 1 1 LOVD
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