FOXG1 Proband List



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cDNA name genomic name Protein name Pathogenicity Phenotype Gender Reference Proband ID
c.133_469del337insACCCACCGCCCC g.29236618_29236954delinsACCCACCGCCCC p.Pro45Thrfs*39 pathogenic variant Not Rett syndrome - sporadic Male 24836831 Seltzer, L.E. et al (2014) fp43
c.136C>T g.29236621C>T p.Gln46* pathogenic variant Not Rett syndrome - sporadic Female 22091895 De Filippis, R. et al (2012) fp35
c.159_161dupCCA g.29236644_29236646dupCCA p.His57dup benign variant Not Rett syndrome - sporadic Female 22190898 Van der Aa, N. et al (2011) fp26
c.159_161dupCCA g.29236644_29236646dupCCA p.His57dup benign variant Not Rett syndrome - sporadic Male 22190898 Van der Aa, N. et al (2011) fp27
c.222_223dupGC g.29236707_29236708dupGC p.Pro75Argfs*118 pathogenic variant Not Rett syndrome - sporadic Male 24836831 Seltzer, L.E. et al (2014) fp54
c.256dupC g.29236741dupC p.Gln86Profs*35 pathogenic variant Rett syndrome - sporadic Male 20734096 Le Guen, T. et al (2011) fp13
c.256dupC g.29236741dupC p.Gln86Profs*35 pathogenic variant Rett syndrome - sporadic Female 22129046 Takahashi, S. et al (2012) fp28
c.256dupC g.29236741dupC p.Gln86Profs*35 pathogenic variant Rett syndrome - sporadic Female 22739344 Allou, L. et al (2012) fp30
c.256dupC g.29236741dupC p.Gln86Profs*35 pathogenic variant Rett syndrome - sporadic Female 22968132 Ellaway, C.J. et al (2012) fp33
c.256C>T g.29236741C>T p.Gln86* pathogenic variant Rett syndrome - sporadic Female 21441262 Kortum, F. et al (2011) fp20
c.256C>T g.29236741C>T p.Gln86* pathogenic variant Not Rett syndrome - sporadic Female 24836831 Seltzer, L.E. et al (2014) fp40
c.256delC g.29236741delC p.Gln86Argfs*106 pathogenic variant Rett syndrome - sporadic Male 22739344 Allou, L. et al (2012) fp31
c.263_278del16 g.29236748_29236763del16 p.Arg88Profs*99 pathogenic variant Rett syndrome - sporadic Male 21441262 Kortum, F. et al (2011) fp23
c.263_278del16 g.29236748_29236763del16 p.Arg88Profs*99 pathogenic variant Not known Male Directly submitted fp83
c.326C>T g.29236811C>T p.Pro109Leu likely benign variant Not Rett syndrome - sporadic Female 21280142 Le Guen, T. et al (2010) fp14
c.326C>T g.29236811C>T p.Pro109Leu likely benign variant Not Rett syndrome - sporadic Male 21280142 Le Guen, T. et al (2010) fp15
c.430G>T g.29236915G>T p.Glu144* pathogenic variant Not Rett syndrome - sporadic Male 24836831 Seltzer, L.E. et al (2014) fp39
c.460dupG g.29236945dupG p.Glu154Glyfs*301 pathogenic variant Rett syndrome - sporadic Female 19806373 Bahi-Buisson, N. et al (2010) fp6
c.460dupG g.29236945dupG p.Glu154Glyfs*301 pathogenic variant Rett syndrome - sporadic Female 21441262 Kortum, F. et al (2011) fp19
c.460dupG g.29236945dupG p.Glu154Glyfs*301 pathogenic variant Rett syndrome - sporadic Male 21441262 Kortum, F. et al (2011) fp21
c.460dupG g.29236945dupG p.Glu154Glyfs*301 pathogenic variant Rett syndrome - sporadic Female 22190898 Van der Aa, N. et al (2011) fp25
c.460dupG g.29236945dupG p.Glu154Glyfs*301 pathogenic variant Not Rett syndrome - sporadic Female 24836831 Seltzer, L.E. et al (2014) fp37
c.460dupG g.29236945dupG p.Glu154Glyfs*301 pathogenic variant Not Rett syndrome - sporadic Male 24836831 Seltzer, L.E. et al (2014) fp38
c.460dupG g.29236945dupG p.Glu154Glyfs*301 pathogenic variant Not Rett syndrome - familial Female 24836831 Seltzer, L.E. et al (2014) fp50
c.460dupG g.29236945dupG p.Glu154Glyfs*301 pathogenic variant Not Rett syndrome - familial Male 24836831 Seltzer, L.E. et al (2014) fp51
c.460dupG g.29236945dupG p.Glu154Glyfs*301 pathogenic variant Not Rett syndrome - familial Female 24836831 Seltzer, L.E. et al (2014) fp55
c.460dupG g.29236945dupG p.Glu154Glyfs*301 pathogenic variant Not Rett syndrome - familial Female 24836831 Seltzer, L.E. et al (2014) fp56
c.505_506delGGinsT g.29236990_29236991delinsT p.Gly169Serfs*23 pathogenic variant Rett syndrome - sporadic Male 21441262 Kortum, F. et al (2011) fp22
c.505_506delGGinsT g.29236990_29236991delinsT p.Gly169Serfs*23 pathogenic variant Not known Male Directly submitted fp84
c.506dup g.29236991dup p.Lys170Glnfs*285 pathogenic variant Not Rett syndrome - sporadic Male 24388699 De Bruyn, C. et al (2014) fp42
c.506delG g.29236991delG p.Gly169Alafs*23 pathogenic variant Not Rett syndrome - sporadic Male 24836831 Seltzer, L.E. et al (2014) fp47
c.515_577del63 g.29237000_29237062del63 p.Gly172_Met192del pathogenic variant Not Rett syndrome - familial Female 24836831 Seltzer, L.E. et al (2014) fp45
c.515_577del63 g.29237000_29237062del63 p.Gly172_Met192del pathogenic variant Not Rett syndrome - familial Female 24836831 Seltzer, L.E. et al (2014) fp46
c.552dupC g.29237037dupC p.Ser185Glnfs*270 pathogenic variant Rett syndrome - sporadic Female 19578037 Mencarelli, M.A. et al (2010) fp9
c.[563C>G(;)644_645delTCinsCT] g.[29237048C>G;29237129_29237130delinsCT] p.[Ala188Gly(;)Phe215Ser] pathogenic variant Not known Female Directly submitted fp82
c.572T>G g.29237057T>G p.Met191Arg likely pathogenic variant Not Rett syndrome - familial Male 26364767 McMahon KQ et al (2015) fp95
c.572T>G g.29237057T>G p.Met191Arg likely pathogenic variant Not Rett syndrome - familial Female 26364767 McMahon KQ et al (2015) fp94
c.572T>G g.29237057T>G p.Met191Arg likely pathogenic variant Not Rett syndrome - familial Female 26364767 McMahon KQ et al (2015) fp93
c.577G>A g.29237062G>A p.Ala193Thr pathogenic variant Rett syndrome - sporadic Male 22190898 Van der Aa, N. et al (2011) fp24
c.577G>A g.29237062G>A p.Ala193Thr pathogenic variant Not Rett syndrome - sporadic Male 24836831 Seltzer, L.E. et al (2014) fp44
c.586C>T g.29237071C>T p.Gln196* pathogenic variant Not Rett syndrome - sporadic Male 24836831 Seltzer, L.E. et al (2014) fp48
c.610C>T g.29237095C>T p.Leu204Phe pathogenic variant Not Rett syndrome - sporadic Female 21953941 Meneret, A. et al (2012) fp34
c.624C>G g.29237109C>G p.Tyr208* pathogenic variant Rett syndrome - sporadic Female 19578037 Mencarelli, M.A. et al (2010) fp10
c.624C>G g.29237109C>G p.Tyr208* pathogenic variant Rett syndrome Female 21488007 Roche-Martinez, A. et al (2012) fp32
c.643T>C g.29237128T>C p.Phe215Leu likely pathogenic variant Rett syndrome - sporadic Female 19578037 Mencarelli, M.A. et al (2010) fp8
c.651C>G g.29237136C>G p.Tyr217* pathogenic variant Not Rett syndrome - sporadic Male 24836831 Seltzer, L.E. et al (2014) fp41
c.681C>G g.29237166C>G p.Asn227Lys variant of uncertain significance Rett syndrome - sporadic Female 19578037 Mencarelli, M.A. et al (2010) fp7
c.689G>A g.29237174G>A p.Arg230His pathogenic variant Rett syndrome - sporadic Female 22129046 Takahashi, S. et al (2012) fp29
c.700T>C g.29237185T>C p.Ser234Pro pathogenic variant Rett syndrome - sporadic Male 21441262 Kortum, F. et al (2011) fp18
c.730C>T g.29237215C>T p.Arg244Cys pathogenic variant Rett syndrome - sporadic Female 21280142 Le Guen, T. et al (2010) fp16
c.735delC g.29237220delC p.Tyr246Thrfs*80 pathogenic variant Not Rett syndrome - sporadic Male 24836831 Seltzer, L.E. et al (2014) fp52
c.755G>T g.29237240G>T p.Gly252Val pathogenic variant Not Rett syndrome - sporadic Female 24836831 Seltzer, L.E. et al (2014) fp49
c.755G>T g.29237240G>T p.Gly252Val pathogenic variant Not known Female Directly submitted fp85
c.757A>G g.29237242A>G p.Asn253Asp pathogenic variant Rett syndrome - sporadic Female 21441262 Kortum, F. et al (2011) fp17
c.757A>G g.29237242A>G p.Asn253Asp pathogenic variant Not known Female Directly submitted fp86
c.762C>G g.29237247C>G p.Tyr254* pathogenic variant Not Rett syndrome - sporadic Male 24836831 Seltzer, L.E. et al (2014) fp53
c.765G>A g.29237250G>A p.Trp255* pathogenic variant Rett syndrome - sporadic Female 18571142 Ariani, F. et al (2008) fp3
c.788_792delACGTG g.29237273_29237277delACGTG p.Asp263Valfs*190 pathogenic variant Rett syndrome - sporadic Female 24412290 Das, D.K. et al (2014) fp2
c.924G>A g.29237409G>A p.Trp308* pathogenic variant Not Rett syndrome - sporadic Female 19564653 Philippe, C et al (2010) fp11
c.969delC g.29237454delC 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.1200C>G g.29237685C>G p.Tyr400* likely pathogenic variant Rett syndrome - sporadic Female 19564653 Philippe, C et al (2010) fp12
c.1200C>A g.29237685C>A p.Tyr400* pathogenic variant Not Rett syndrome - sporadic Female 22091895 De Filippis, R. et al (2012) fp36
c.1248C>G g.29237733C>G p.Tyr416* likely pathogenic variant Rett syndrome - sporadic Female 19806373 Bahi-Buisson, N. et al (2010) fp5

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