All individuals with variants in gene SIX1

26 entries on 1 page. Showing entries 1 - 26.
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00285085 162 PubMed: Krug 2011 - - - France - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285086 GDA3/4 PubMed: Weber 2006 2-generation family, 2 affected sibs, unaffected heterozygous carrier mother - - - - - - - - ? - 1 2 Global Variome, with Curator vacancy
00285087 1226 PubMed: Krug 2011 - - - France - - - - - ? see paper; ... 1 1 Global Variome, with Curator vacancy
00285088 - PubMed: Smith 1993 - - - - - - - - - ? hearing loss; microtia; branchial cysts; CNS; orofacial malformations including celft lip and palate; micrognathia; vesicoureteric reflux; growth retardation; developmental delay; mild-moderate hearing loss; ear pits 1 1 Global Variome, with Curator vacancy
00285089 - PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Salam 2000, PubMed: Ruf 2004, PubMed: Patrick 2009 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285090 - PubMed: Ruf 2003, PubMed: Smith 1993, PubMed: Ruf 2004, PubMed: Patrick 2009 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285091 - PubMed: Shearer 1993, PubMed: Mosrati 2011 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285092 - PubMed: Smith 1993, PubMed: Sanggaard 2007 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285093 - PubMed: Smith 1993, PubMed: Kochhar 2008, PubMed: Patrick 2009 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285094 - PubMed: Kochhar 2008 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285095 - PubMed: Iglesias 2014 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285096 - PubMed: Smith 1993, PubMed: Ruf 2004, PubMed: Patrick 2009 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285097 - PubMed: Smith 1993, PubMed: Kochhar 2008, PubMed: Patrick 2009 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285098 - PubMed: Kochhar 2008 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285099 - PubMed: Smith 1993, PubMed: Kochhar 2008, PubMed: Patrick 2009 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00316074 BO5 PubMed: Heidet 2017 - - - France - - - - - kidney disease branchial defect, deafness 1 1 Johan den Dunnen
00387676 75 PubMed: Zanolli 2020 individual ID not present in paper, consecutive numbers given ? - Chile - - - - - retinal disease - 1 1 LOVD
00399853 Fam1Pat7081 PubMed: Calpena 2022 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - craniosynost. see paper; ..., craniosynostosis; severe branchio-otic syndrome; affected sutures sgittal, lambdoid (left, right); speech/language delay, ear pits/tags, unilateral neck sinus, sensorineural hearing loss 1 1 Johan den Dunnen
00399854 Fam2Pat163567 PubMed: Calpena 2022 2-generation family, 1 affected, unaffected heterozygous carrier father M - - - - - - - craniosynost. see paper; ..., craniosynostosis; no branchio-otic syndrome; affected sutures sgittal; borderline short stature, mild anteverted nares 1 1 Johan den Dunnen
00399855 Fam3PatF8566-1 (twin 1) PubMed: Calpena 2022 4-generation family, 6 affected (2F, 4M), affected heterozygous carrier mother M - - - - - - - craniosynost. see paper; ..., craniosynostosis; severe branchio-otic syndrome; affected sutures sgittal, lambdoid (left, right); branchial fistula 1 6 Johan den Dunnen
00399856 Fam3PatF8552-1 (twin 2) PubMed: Calpena 2022 twin brother M - - - - - - - craniosynost. see paper; ..., craniosynostosis; severe branchio-otic syndrome; affected sutures coronal (left, right), sagittal; branchial fistula, restricted growth, posterior urethral valves 1 1 Johan den Dunnen
00399857 Fam4PatL112-1 PubMed: Calpena 2022 4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier mother M - - - - - - - craniosynost. see paper; ..., craniosynostosis; severe branchio-otic syndrome; affected sutures sgittal, lambdoid (left, right); mild conductive hearing loss, unilateral branchial cyst/fistula 1 4 Johan den Dunnen
00399858 Fam5Pat5692 PubMed: Calpena 2022 2-generation family, 1 affected, unaffected heterozygous carrier mother F - - Asia - - - - craniosynost. see paper; ..., craniosynostosis; no branchio-otic syndrome; affected sutures sgittal, lambdoid (left, right) 1 1 Johan den Dunnen
00399859 Fam6Pat1140 PubMed: Calpena 2022 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - craniosynost. see paper; ..., craniosynostosis; mild branchio-otic syndrome; affected sutures sgittal; preauricular pits 1 1 Johan den Dunnen
00399860 Fam7Pat4531 PubMed: Calpena 2022 2-generation family, affected son/father M - - - - - - - craniosynost. see paper; ..., craniosynostosis; mild branchio-otic syndrome; affected sutures sgittal; occult bilateral branchial cysts 1 1 Johan den Dunnen
00399861 714/715 PubMed: Krug 2011 2-generation family, affected father/son M - France - - - - - ? see paper; ... 1 2 Johan den Dunnen
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