FOXG1 Proband List
cDNA name | genomic name | Protein name | Pathogenicity | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|---|
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.133_469del337insACCCACCGCCCC | g.29236618_29236954delinsACCCACCGCCCC | p.Pro45Thrfs*39 | pathogenic variant | Not Rett syndrome - sporadic | Male | 24836831 Seltzer, L.E. et al (2014) | fp43 |
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.256C>T | g.29236741C>T | p.Gln86* | pathogenic variant | Not Rett syndrome - sporadic | Female | 24836831 Seltzer, L.E. et al (2014) | fp40 |
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 | 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.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.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.651C>G | g.29237136C>G | p.Tyr217* | pathogenic variant | Not Rett syndrome - sporadic | Male | 24836831 Seltzer, L.E. et al (2014) | fp41 |
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.762C>G | g.29237247C>G | p.Tyr254* | pathogenic variant | Not Rett syndrome - sporadic | Male | 24836831 Seltzer, L.E. et al (2014) | fp53 |
c.974_975insA | p.Ser326Glufs*129 | likely pathogenic variant | Not Rett syndrome - sporadic | Male | 24766421 Diebold, B. et al (2014) | fp1 | |
c.788_792delACGTG | g.29237273_29237277delACGTG | p.Asp263Valfs*190 | pathogenic variant | Rett syndrome - sporadic | Female | 24412290 Das, D.K. et al (2014) | fp2 |
c.506dup | g.29236991dup | p.Lys170Glnfs*285 | pathogenic variant | Not Rett syndrome - sporadic | Male | 24388699 De Bruyn, C. et al (2014) | fp42 |
c.256dupC | g.29236741dupC | p.Gln86Profs*35 | pathogenic variant | Rett syndrome - sporadic | Female | 22968132 Ellaway, C.J. et al (2012) | fp33 |
c.256dupC | g.29236741dupC | p.Gln86Profs*35 | pathogenic variant | Rett syndrome - sporadic | Female | 22739344 Allou, L. et al (2012) | fp30 |
c.256delC | g.29236741delC | p.Gln86Argfs*106 | pathogenic variant | Rett syndrome - sporadic | Male | 22739344 Allou, L. et al (2012) | fp31 |
c.256dupC | g.29236741dupC | p.Gln86Profs*35 | pathogenic variant | Rett syndrome - sporadic | Female | 22129046 Takahashi, S. et al (2012) | fp28 |
c.689G>A | g.29237174G>A | p.Arg230His | pathogenic variant | Rett syndrome - sporadic | Female | 22129046 Takahashi, S. et al (2012) | fp29 |
c.136C>T | g.29236621C>T | p.Gln46* | pathogenic variant | Not Rett syndrome - sporadic | Female | 22091895 De Filippis, R. et al (2012) | fp35 |
c.1200C>A | g.29237685C>A | p.Tyr400* | pathogenic variant | Not Rett syndrome - sporadic | Female | 22091895 De Filippis, R. et al (2012) | fp36 |
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 | Female | 21488007 Roche-Martinez, A. et al (2012) | fp32 |
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.460dupG | g.29236945dupG | p.Glu154Glyfs*301 | pathogenic variant | Rett syndrome - sporadic | Female | 22190898 Van der Aa, N. et al (2011) | fp25 |
c.577G>A | g.29237062G>A | p.Ala193Thr | pathogenic variant | Rett syndrome - sporadic | Male | 22190898 Van der Aa, N. et al (2011) | fp24 |
c.256C>T | g.29236741C>T | p.Gln86* | pathogenic variant | Rett syndrome - sporadic | Female | 21441262 Kortum, F. et al (2011) | fp20 |
c.263_278del16 | g.29236748_29236763del16 | p.Arg88Profs*99 | pathogenic variant | Rett syndrome - sporadic | Male | 21441262 Kortum, F. et al (2011) | fp23 |
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.505_506delGGinsT | g.29236990_29236991delinsT | p.Gly169Serfs*23 | pathogenic variant | Rett syndrome - sporadic | Male | 21441262 Kortum, F. et al (2011) | fp22 |
c.700T>C | g.29237185T>C | p.Ser234Pro | pathogenic variant | Rett syndrome - sporadic | Male | 21441262 Kortum, F. et al (2011) | fp18 |
c.757A>G | g.29237242A>G | p.Asn253Asp | pathogenic variant | Rett syndrome - sporadic | Female | 21441262 Kortum, F. et al (2011) | fp17 |
c.256dupC | g.29236741dupC | p.Gln86Profs*35 | pathogenic variant | Rett syndrome - sporadic | Male | 20734096 Le Guen, T. et al (2011) | fp13 |
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.730C>T | g.29237215C>T | p.Arg244Cys | pathogenic variant | Rett syndrome - sporadic | Female | 21280142 Le Guen, T. et al (2010) | fp16 |
c.460dupG | g.29236945dupG | p.Glu154Glyfs*301 | pathogenic variant | Rett syndrome - sporadic | Female | 19806373 Bahi-Buisson, N. et al (2010) | fp6 |
c.1248C>G | g.29237733C>G | p.Tyr416* | likely pathogenic variant | Rett syndrome - sporadic | Female | 19806373 Bahi-Buisson, N. et al (2010) | fp5 |
c.552dupC | g.29237037dupC | p.Ser185Glnfs*270 | pathogenic variant | Rett syndrome - sporadic | Female | 19578037 Mencarelli, M.A. et al (2010) | fp9 |
c.624C>G | g.29237109C>G | p.Tyr208* | pathogenic variant | Rett syndrome - sporadic | Female | 19578037 Mencarelli, M.A. et al (2010) | fp10 |
c.643T>C | g.29237128T>C | p.Phe215Leu | likely pathogenic variant | Rett syndrome - sporadic | Female | 19578037 Mencarelli, M.A. et al (2010) | fp8 |
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.924G>A | g.29237409G>A | p.Trp308* | pathogenic variant | Not Rett syndrome - sporadic | Female | 19564653 Philippe, C et al (2010) | fp11 |
c.1200C>G | g.29237685C>G | p.Tyr400* | likely pathogenic variant | Rett syndrome - sporadic | Female | 19564653 Philippe, C et al (2010) | fp12 |
c.765G>A | g.29237250G>A | p.Trp255* | pathogenic variant | Rett syndrome - sporadic | Female | 18571142 Ariani, F. et al (2008) | fp3 |
c.969delC | g.29237454delC | p.Ser323Argfs*3 | pathogenic variant | Rett syndrome - sporadic | Female | 18571142 Ariani, F. et al (2008) | fp4 |
c.263_278del16 | g.29236748_29236763del16 | p.Arg88Profs*99 | pathogenic variant | Not known | Male | Directly submitted | fp83 |
c.505_506delGGinsT | g.29236990_29236991delinsT | p.Gly169Serfs*23 | pathogenic variant | Not known | Male | Directly submitted | fp84 |
c.[563C>G(;)644_645delTCinsCT] | g.[29237048C>G;29237129_29237130delinsCT] | p.[Ala188Gly(;)Phe215Ser] | pathogenic variant | Not known | Female | Directly submitted | fp82 |
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 | Not known | Female | Directly submitted | fp86 |
Displaying 64 entries
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