FOXG1 Proband List



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cDNA name Protein name Pathogenicity Phenotype Gender Reference Proband ID
c.577G>A p.Ala193Thr pathogenic variant Rett syndrome - sporadic Male 22190898 Van der Aa, N. et al (2011) fp24
c.577G>A p.Ala193Thr pathogenic variant Not Rett syndrome - sporadic Male 24836831 Seltzer, L.E. et al (2014) fp44
c.689G>A p.Arg230His pathogenic variant Rett syndrome - sporadic Female 22129046 Takahashi, S. et al (2012) fp29
c.730C>T p.Arg244Cys pathogenic variant Rett syndrome - sporadic Female 21280142 Le Guen, T. et al (2010) fp16
c.263_278del16 p.Arg88Profs*99 pathogenic variant Rett syndrome - sporadic Male 21441262 Kortum, F. et al (2011) fp23
c.681C>G p.Asn227Lys variant of uncertain significance Rett syndrome - sporadic Female 19578037 Mencarelli, M.A. et al (2010) fp7
c.757A>G p.Asn253Asp pathogenic variant Rett syndrome - sporadic Female 21441262 Kortum, F. et al (2011) fp17
c.586C>T p.Gln196* pathogenic variant Not Rett syndrome - sporadic Male 24836831 Seltzer, L.E. et al (2014) fp48
c.136C>T p.Gln46* pathogenic variant Not Rett syndrome - sporadic Female 22091895 De Filippis, R. et al (2012) fp35
c.256C>T p.Gln86* pathogenic variant Rett syndrome - sporadic Female 21441262 Kortum, F. et al (2011) fp20
c.256C>T p.Gln86* pathogenic variant Not Rett syndrome - sporadic Female 24836831 Seltzer, L.E. et al (2014) fp40
c.256delC p.Gln86Argfs*106 pathogenic variant Rett syndrome - sporadic Male 22739344 Allou, L. et al (2012) fp31
c.256dupC p.Gln86Profs*35 pathogenic variant Rett syndrome - sporadic Male 20734096 Le Guen, T. et al (2011) fp13
c.256dupC p.Gln86Profs*35 pathogenic variant Rett syndrome - sporadic Female 22129046 Takahashi, S. et al (2012) fp28
c.256dupC p.Gln86Profs*35 pathogenic variant Rett syndrome - sporadic Female 22739344 Allou, L. et al (2012) fp30
c.256dupC p.Gln86Profs*35 pathogenic variant Rett syndrome - sporadic Female 22968132 Ellaway, C.J. et al (2012) fp33
c.430G>T p.Glu144* pathogenic variant Not Rett syndrome - sporadic Male 24836831 Seltzer, L.E. et al (2014) fp39
c.460dupG p.Glu154Glyfs*301 pathogenic variant Rett syndrome - sporadic Female 19806373 Bahi-Buisson, N. et al (2010) fp6
c.460dupG p.Glu154Glyfs*301 pathogenic variant Rett syndrome - sporadic Female 21441262 Kortum, F. et al (2011) fp19
c.460dupG p.Glu154Glyfs*301 pathogenic variant Rett syndrome - sporadic Male 21441262 Kortum, F. et al (2011) fp21
c.460dupG p.Glu154Glyfs*301 pathogenic variant Rett syndrome - sporadic Female 22190898 Van der Aa, N. et al (2011) fp25
c.460dupG p.Glu154Glyfs*301 pathogenic variant Not Rett syndrome - sporadic Female 24836831 Seltzer, L.E. et al (2014) fp37
c.460dupG p.Glu154Glyfs*301 pathogenic variant Not Rett syndrome - sporadic Male 24836831 Seltzer, L.E. et al (2014) fp38
c.460dupG p.Glu154Glyfs*301 pathogenic variant Not Rett syndrome - familial Female 24836831 Seltzer, L.E. et al (2014) fp50
c.460dupG p.Glu154Glyfs*301 pathogenic variant Not Rett syndrome - familial Male 24836831 Seltzer, L.E. et al (2014) fp51
c.460dupG p.Glu154Glyfs*301 pathogenic variant Not Rett syndrome - familial Female 24836831 Seltzer, L.E. et al (2014) fp55
c.460dupG p.Glu154Glyfs*301 pathogenic variant Not Rett syndrome - familial Female 24836831 Seltzer, L.E. et al (2014) fp56
c.506delG p.Gly169Alafs*23 pathogenic variant Not Rett syndrome - sporadic Male 24836831 Seltzer, L.E. et al (2014) fp47
c.505_506delGGinsT p.Gly169Serfs*23 pathogenic variant Rett syndrome - sporadic Male 21441262 Kortum, F. et al (2011) fp22
c.515_577del63 p.Gly172_Met192del pathogenic variant Not Rett syndrome - familial Female 24836831 Seltzer, L.E. et al (2014) fp45
c.515_577del63 p.Gly172_Met192del pathogenic variant Not Rett syndrome - familial Female 24836831 Seltzer, L.E. et al (2014) fp46
c.755G>T p.Gly252Val pathogenic variant Not Rett syndrome - sporadic Female 24836831 Seltzer, L.E. et al (2014) fp49
c.159_161dupCCA p.His57dup benign variant Not Rett syndrome - sporadic Female 22190898 Van der Aa, N. et al (2011) fp26
c.159_161dupCCA p.His57dup benign variant Not Rett syndrome - sporadic Male 22190898 Van der Aa, N. et al (2011) fp27
c.610C>T p.Leu204Phe pathogenic variant Not Rett syndrome - sporadic Female 21953941 Meneret, A. et al (2012) fp34
c.643T>C p.Phe215Leu likely pathogenic variant Rett syndrome - sporadic Female 19578037 Mencarelli, M.A. et al (2010) fp8
c.326C>T p.Pro109Leu likely benign variant Not Rett syndrome - sporadic Female 21280142 Le Guen, T. et al (2010) fp14
c.326C>T p.Pro109Leu likely benign variant Not Rett syndrome - sporadic Male 21280142 Le Guen, T. et al (2010) fp15
c.133_469del337insACCCACCGCCCC p.Pro45Thrfs*39 pathogenic variant Not Rett syndrome - sporadic Male 24836831 Seltzer, L.E. et al (2014) fp43
c.222_223dupGC p.Pro75Argfs*118 pathogenic variant Not Rett syndrome - sporadic Male 24836831 Seltzer, L.E. et al (2014) fp54
c.552dupC p.Ser185Glnfs*270 pathogenic variant Rett syndrome - sporadic Female 19578037 Mencarelli, M.A. et al (2010) fp9
c.700T>C p.Ser234Pro pathogenic variant Rett syndrome - sporadic Male 21441262 Kortum, F. et al (2011) fp18
c.969delC p.Ser323Argfs*3 pathogenic variant Rett syndrome - sporadic Female 18571142 Ariani, F. et al (2008) fp4
c.974_975insA p.Ser326Glufs*129 likely pathogenic variant Not Rett syndrome - sporadic Male 24766421 Diebold, B. et al (2014) fp1
c.765G>A p.Trp255* pathogenic variant Rett syndrome - sporadic Female 18571142 Ariani, F. et al (2008) fp3
c.924G>A p.Trp308* pathogenic variant Not Rett syndrome - sporadic Female 19564653 Philippe, C et al (2010) fp11
c.624C>G p.Tyr208* pathogenic variant Rett syndrome - sporadic Female 19578037 Mencarelli, M.A. et al (2010) fp10
c.624C>G p.Tyr208* pathogenic variant Rett syndrome Female 21488007 Roche-Martinez, A. et al (2012) fp32
c.651C>G p.Tyr217* pathogenic variant Not Rett syndrome - sporadic Male 24836831 Seltzer, L.E. et al (2014) fp41
c.735delC p.Tyr246Thrfs*80 pathogenic variant Not Rett syndrome - sporadic Male 24836831 Seltzer, L.E. et al (2014) fp52
c.762C>G p.Tyr254* pathogenic variant Not Rett syndrome - sporadic Male 24836831 Seltzer, L.E. et al (2014) fp53
c.1200C>G p.Tyr400* likely pathogenic variant Rett syndrome - sporadic Female 19564653 Philippe, C et al (2010) fp12
c.1200C>A p.Tyr400* pathogenic variant Not Rett syndrome - sporadic Female 22091895 De Filippis, R. et al (2012) fp36
c.1248C>G p.Tyr416* likely pathogenic variant Rett syndrome - sporadic Female 19806373 Bahi-Buisson, N. et al (2010) fp5
c.263_278del16 p.Arg88Profs*99 pathogenic variant Not known Male Directly submitted fp83
c.757A>G p.Asn253Asp pathogenic variant Not known Female Directly submitted fp86
c.788_792delACGTG p.Asp263Valfs*190 pathogenic variant Rett syndrome - sporadic Female 24412290 Das, D.K. et al (2014) fp2
c.505_506delGGinsT p.Gly169Serfs*23 pathogenic variant Not known Male Directly submitted fp84
c.755G>T p.Gly252Val pathogenic variant Not known Female Directly submitted fp85
c.506dup p.Lys170Glnfs*285 pathogenic variant Not Rett syndrome - sporadic Male 24388699 De Bruyn, C. et al (2014) fp42
c.572T>G p.Met191Arg likely pathogenic variant Not Rett syndrome - familial Male 26364767 McMahon KQ et al (2015) fp95
c.572T>G p.Met191Arg likely pathogenic variant Not Rett syndrome - familial Female 26364767 McMahon KQ et al (2015) fp94
c.572T>G p.Met191Arg likely pathogenic variant Not Rett syndrome - familial Female 26364767 McMahon KQ et al (2015) fp93
c.[563C>G(;)644_645delTCinsCT] p.[Ala188Gly(;)Phe215Ser] pathogenic variant Not known Female Directly submitted fp82

Displaying 64 entries


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