All individuals with variants in gene SOX10

142 entries on 2 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00080009 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 1 1 Mieke Wesdorp
00080058 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - deafness - 1 1 Mieke Wesdorp
00285517 - PubMed: Inoue 1999, PubMed: Inoue 2007 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285523 - PubMed: Tang 2015 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285529 - PubMed: Wang 2014 - - - - - - - - - WS - 1 1 Global Variome, with Curator vacancy
00285530 - PubMed: Pingault 2010, PubMed: Elmaleh-Bergès 2013 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285535 - PubMed: Inoue 2004, PubMed: Touraine 2000, PubMed: Jacobs 1992 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285539 - PubMed: Viñuela 2009, PubMed: Inoue 2004 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285544 - PubMed: Touraine 2000, PubMed: Xiong 2015 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285545 - PubMed: Inoue 2002, PubMed: Xiong 2015 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285547 - PubMed: Pingault 2002, PubMed: Xiong 2015 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285549 - PubMed: Sznajer 2008, PubMed: Xiong 2015 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285550 - PubMed: Jiang 2011, PubMed: Xiong 2015 - - - - - - - - - WS - 1 1 Global Variome, with Curator vacancy
00285553 - PubMed: Southard-Smith 1999, PubMed: Xiong 2015 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285554 - PubMed: Chen 2015 - - - - - - - - - WS - 1 1 Global Variome, with Curator vacancy
00285555 - PubMed: Pingault 1998, PubMed: Xiong 2015 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285559 - PubMed: Barnett 2009, PubMed: Chaoui 2011 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285560 - PubMed: Pingault 2010, PubMed: Xiong 2015 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285562 - PubMed: Pingault 1998 - - - - - - - - - WS - 1 1 Global Variome, with Curator vacancy
00285564 - PubMed: Marcos 2014 - - - - - - - - - KS - 1 1 Global Variome, with Curator vacancy
00285570 - PubMed: Pingault 2010, PubMed: Xiong 2015 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285572 - PubMed: Bondurand 1999, PubMed: Hennekam 1996 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285573 - PubMed: Marcos 2014 - - - - - - - - - KS - 1 1 Global Variome, with Curator vacancy
00285582 - PubMed: Tang 2015 - - - - - - - - - WS - 1 1 Global Variome, with Curator vacancy
00285583 - PubMed: Chen 2014 - - - - - - - - - WS - 1 1 Global Variome, with Curator vacancy
00285584 - PubMed: Jiang 2011, PubMed: Xiong 2015 - - - - - - - - - WS - 1 1 Global Variome, with Curator vacancy
00285585 - PubMed: Pingault 1998, PubMed: Xiong 2015 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285586 - PubMed: Pingault 1998 - - - - - - - - - WS - 1 1 Global Variome, with Curator vacancy
00285587 - PubMed: Vaaralahti 2014 - - - - - - - - - KS hearing loss (HL) 1 1 Global Variome, with Curator vacancy
00285589 - PubMed: Inoue 2002 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00285594 - PubMed: Arimoto 2014 - - - - - - - - - WS - 1 1 Global Variome, with Curator vacancy
00285595 - PubMed: Chen 2010, PubMed: Zhang 2012 - - - - - - - - - WS - 1 1 Global Variome, with Curator vacancy
00295915 - - - F - - - - - - - ? Global developmental delay (HP:0001263); Absent speech (HP:0001344); Hearing impairment (HP:0000365); Autism (HP:0000717) 1 1 Andreas Laner
00295955 SH289-664 - - M ? Korea, South (Republic) Asian 12y - - - deafness Hearing loss, developmental delay, Kallmann syndrome 1 1 Seungmin Lee
00309873 HL027 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - HL see paper; ... 1 1 Johan den Dunnen
00315771 - PubMed: Pingault 2010 - M - - - - - - - WS - 1 1 Veronique Pingault
00315772 - PubMed: Pingault 2002 - M - - - - - - - WS - 1 1 Veronique Pingault
00315773 - PubMed: Sham 2001 - F - China - - - - - WS - 1 1 Veronique Pingault
00315774 - PubMed: Pingault 1998 - M - - - - - - - WS - 1 1 Veronique Pingault
00315775 - PubMed: Bondurand 2007 - M - - - - - - - WS - 1 1 Veronique Pingault
00315776 - PubMed: Pingault 2002 - M - - - - - - - WS - 1 1 Veronique Pingault
00315777 - PubMed: Hennekam 1996, PubMed: Bondurand 1999 - F - - - - - - - ? - 1 1 Veronique Pingault
00315778 - Touraine 1998 Am J Hum Genet 63:A174 - - - - - - - - - WS - 1 1 Veronique Pingault
00315779 - PubMed: Morin 2008 - M - - - - - - - WS - 1 1 Veronique Pingault
00315780 - PubMed: Pingault 1998 - F - - - - - - - WS - 1 1 Veronique Pingault
00315781 - PubMed: Iso 2008 - F - Japan - - - - - WS - 1 1 Veronique Pingault
00315782 - PubMed: Elmaleh-Berges 2013, PubMed: Pingault 2010 - M - Belgium - - - - - WS mother/brother have variant and present with isolated deafness; mother has trigeminal neuralgia 1 1 Veronique Pingault
00315783 - PubMed: Barnett 2009 - M - - - - - - - ? visual impairment inner ear abnormalities aplasia of cochlear nerves and olfactory bulbs 1 1 Veronique Pingault
00315784 - PubMed: Pingault 1998 - M - - - - - - - WS - 1 1 Veronique Pingault
00315785 - PubMed: Southard-Smith 1999 - M - - - - - - - WS - 1 1 Veronique Pingault
00315786 - PubMed: Elmaleh-Berges 2013, PubMed: Pingault 2010 - M - France - - - - - WS inner ear abnormalities 1 1 Veronique Pingault
00315787 - PubMed: Sznajer 2008 - M - Turkey - - - - - ? inner ear abnormalities autistic-like behaviour 1 1 Veronique Pingault
00315788 - PubMed: Pingault 2002 - M - Algeria - - - - - ? hypoventilation inner ear abnormalities 1 1 Veronique Pingault
00315789 - PubMed: Inoue 2002 - M - - - - - - - ? hypoventilation 1 1 Veronique Pingault
00315790 - PubMed: Touraine 2000 - M - France - - - - - ? - 1 1 Veronique Pingault
00315791 - PubMed: Pingault 2002 - M - Japan - - - - - WS - 1 1 Veronique Pingault
00315792 - PubMed: Pingault 2000 - F - - - - - - - ? - 1 1 Veronique Pingault
00315793 - PubMed: Elmaleh-Berges 2013, PubMed: Pingault 2010 - M - France - - - - - WS inner ear abnormalities 1 1 Veronique Pingault
00315794 - PubMed: Inoue 2004 - M - - - - - - - ? - 1 1 Veronique Pingault
00315795 - PubMed: Vinuela 2009 - M - - - - - - - ? inner ear abnormalities 1 1 Veronique Pingault
00315796 - PubMed: Pingault 2010 - F - Australia - - - - - ? inner ear abnormalities 1 1 Veronique Pingault
00315797 - PubMed: Inoue 2004 - M - - - - - - - ? - 1 1 Veronique Pingault
00315798 - PubMed: Touraine 2000;PubMed: Korsch 2001 - M - Germany - - - - - ? hypogonadism 1 2 Veronique Pingault
00315799 - PubMed: Touraine 2000 - M - France - - - - - ? - 1 1 Veronique Pingault
00315800 - PubMed: Inoue 2004 - M - Japan - - - - - ? inner ear abnormalities 1 1 Veronique Pingault
00315801 - PubMed: Pingault 2010 - M - - - - - - - WS - 1 1 Veronique Pingault
00315802 - PubMed: Elmaleh-Berges 2013 - - - France - - - - - WS - 1 1 Veronique Pingault
00315803 - PubMed: Pingault 1998 - - - - - - - - - WS - 1 1 Veronique Pingault
00315804 - PubMed: Inoue 2004 - F - - - - - - - ? - 1 1 Veronique Pingault
00315805 - PubMed: Pingault 2002 - M - - - - - - - ? inner ear abnormalities 1 1 Veronique Pingault
00315806 - PubMed: Toki 2003 - M - - - - - - - WS - 1 1 Veronique Pingault
00315807 - PubMed: Southard-Smith 1999 - - - - - - - - - ? - 1 1 Veronique Pingault
00315808 - PubMed: Verheij 2006 - F - - - - - - - ? absent pain sensation 1 1 Veronique Pingault
00315809 - PubMed: Elmaleh-Berges 2013, PubMed: Pingault 2010 - M - France - - - - - WS inner ear abnormalities 1 1 Veronique Pingault
00315810 - PubMed: Sham 2001 - M - China - - - - - ? - 1 1 Veronique Pingault
00315811 - PubMed: Inoue 1999 - F - Japan - - - - - ? dystopia canthorum 1 1 Veronique Pingault
00315812 - PubMed: Elmaleh-Berges 2013, PubMed: Pingault 2010 - F - France;Nigeria - - - - - ? - 1 1 Veronique Pingault
00315813 - PubMed: Sanchez-Meijas 2010 - F - - - - - - - WS - 1 1 Veronique Pingault
00315814 - PubMed: Sanchez-Meijas 2010 - M - - - - - - - HSCR - 1 1 Veronique Pingault
00315815 - PubMed: Chen 2010 - - - China - - - - - WS - 1 1 Veronique Pingault
00315816 - PubMed: Chen 2010 - - - China - - - - - WS - 1 1 Veronique Pingault
00315817 - PubMed: Chen 2010 - - - China - - - - - WS - 1 1 Veronique Pingault
00315818 - PubMed: Jiang 2011 a sister has WS2 - - China - - - - - WS - 1 1 Veronique Pingault
00315819 - PubMed: Jiang 2011 - F - China - - - - - WS - 1 1 Veronique Pingault
00315820 - PubMed: Unzicker 2011 - M - - - - - - - ? - 1 1 Veronique Pingault
00315821 - PubMed: Chaoui 2011 - F - - - - - - - WS - 1 1 Veronique Pingault
00315822 - PubMed: Chaoui 2011 - M - - - - - - - ? - 1 1 Veronique Pingault
00315823 - PubMed: Chaoui 2011 - M - - - - - - - ? - 1 1 Veronique Pingault
00315824 - PubMed: Chaoui 2011 - F - - - - - - - WS - 1 1 Veronique Pingault
00315825 - PubMed: Elmaleh-Berges 2013, PubMed: Chaoui 2011 - M - Algeria - - - - - ? - 1 1 Veronique Pingault
00315826 - PubMed: Chaoui 2011 - M - - - - - - - WS - 1 1 Veronique Pingault
00315827 - PubMed: Chaoui 2011 - M - - - - - - - ? - 2 1 Veronique Pingault
00315828 - PubMed: Chaoui 2011 - M - - - - - - - WS - 1 1 Veronique Pingault
00315829 - PubMed: Chaoui 2011 - F - - - - - - - ? - 1 1 Veronique Pingault
00315830 - PubMed: Chaoui 2011 - M - - - - - - - ? - 1 1 Veronique Pingault
00315831 - PubMed: Chaoui 2011 - - - - - - - - - ? - 1 1 Veronique Pingault
00315832 - PubMed: Zhang 2012 - - - - - - - - - WS - 1 1 Veronique Pingault
00315833 - PubMed: Bondurand 2007 - M - - - - - - - WS bilateral cryptorchidism 1 1 Veronique Pingault
00315834 - PubMed: Bondurand 2007 - M - - - - - - - ? anosmia, hypermetropia, dental-enamel anomalies 1 1 Veronique Pingault
00315835 - PubMed: Bondurand 2007 - M - - - - - - - ? - 1 1 Veronique Pingault
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