Ainzley Reid 2022
Female
Harshwardhan 2022
Duplication
chr14:g.28767636dup; c.357dup; p.Lys120Ter
Male
Zhang Mu Chen 201807
Deletion
Total Deletion
Female
Zhang Mu Chen 201807
Deletion
Female
Amin E 2012
Deletion
Male
Pauline Honningsvaag Moe 2007
Missense
C.565C>T(p.L189F)
Female
Lilianna 2018
Female
Nico 2022
Male
Connor 2022
Deletion
Del.288 p.29236773
Male
Chase Leighton 2007
Unknown
Genetic Report lists Variant as c.622 T>a p.(Y208N)
Male
NINA LLAGUNO MARTINEZ 2013
Missense
c.643T>C p.Phe215Leu
Female
Robert 2009
Frameshift
FOXG1 c.1370_1371dupGAP. (Pro458AspfsTer31)
Male
EMA 2016
Unknown
256
Female
Tom M 2003
Duplication
Male
Elijah 2007
Deletion, Frameshift, Truncation
Male
Anton 2021
Deletion
Male
Malachy Spriggs 2012
Unknown
Male
MacKenzie 2000
Female
MacKenzie 2000
Female
Luka 2013
Missense
c.645>G p.(Phe215Leu)
Male
Lola 2015
Deletion
c.256del p.
Female
adlai naimi
maximo Seeber 2013
Frameshift
Male
Tyler Nicely 2017
Male
Lenny-Luka 2019
Other
De novo change in fox g 1 Gene
Male
Mats Beliën 2020
Missense
Chr14:29237216; FOXG1; NM_005249.4; Exon 1; c.731G>A p.(Arg244His); AD-de novo; heterozygous; class 4, likely pathogenic
Male
Juliette EMBLANC 2016
Frameshift
c.460dup
Female
Lauren 2003
Deletion, Insertion
de novo 2 base pair deletion/insertion at amino acid position 215 (p.Phe215Ser) and 188 (p.Ala188Gly)
Female
Leon 2003
Male
Isaac 2004
Missense
c.821G>C (p.Arg274Pro)
Male
Oriol 2011
Other
Mutación c.461insG (p.Glu154G1 fs294X)
Male
Aleksandra 2009
Duplication
C.460dupG
Female
Lillian Daw 2019
Deletion
Lily has a single copy loss of 9.7 Mb extending from 14q11.2 to 14q12. The deletion encompasses 114 known genes including FOXG1
Female
Noah 2017
Deletion
Male
Mina 2019
Missense
Female
Emily 2019
Missense
Female
Crosby 2019
Frameshift
Male
Mason McInnis 2015
Deletion
14q11-14q22
Male
yeseo park 2018
Frameshift
foxg1
Female
Hayes Perry 2017
Frameshift
Frameshift microdeletion
Male
Joanna Goins 2017
Missense
Female
Caleb 2019
Frameshift
c.250-251delCCinsG
Male
Elias 2010
Duplication
Male
Elias Stanley 2010
Frameshift
Male
Ella Bennett 2019
Deletion
Female
Georgia 2017
Missense
Female
Christopher 2018
Duplication, Frameshift
c.460dupG p.E154GfsX301
Male
Westin Hughes 2017
Missense
c.703 C>T p.L235F
Male
Lydia 2020
Missense
c.703C>T
Female
Lucie TAULEIGNE 2014
Missense
Mutation faux-sens Variation chr14:g.29237216G>A NM_005249.4 :c.731>A p.(Arg244His)
Female
Kornelia 2014
Other
Female
Andrin B. 2016
Unknown
Male
Maria 2014
Duplication
c.460dupG
Female
MA QINGMO 2018
Unknown
Male
Kornelia 2014
Frameshift
c256delc
Female
Balsam Pierce 2016
Missense
FOXG1, Exon 1, c. 253C>T (p. Pro85Ser), heterozygous, Uncertain significance
Male
Antoni 2018
Frameshift
Male
Kennett 2016
Missense
Male
Thomas 2017
Unknown
Unknown
Male
Bjay brown 2009
Unknown
Not sure
Male
Efe Yusuf 2013
Other
Male
Charlotte 2015
Missense
Female
Collins Sanchez 2016
Female
Ivy Gibbons 2018
Nonsense
c.675G>A (p.Trp225Ter), de novo, pathogenic, heterozygous
Female
Quade Armstrong 1996
Deletion
Male
Everett 2017
Insertion
Male
Ján 2018
Deletion
14q12(28556162_29797243)x1
Male
Benjamin 2007
Missense
Male
Romain 2006
Male
Dominic 2004
Deletion
Male
Villads Nabe-Nielsen 2009
Other
Male
Meghan Huffman 1986
Nonsense
FOXG1 c.762C>A(p.Tyr254*)
Female
Harrison 2017
Deletion
Male
Kanita 2014
Frameshift
14q12
Female
Adam Kascak 2003
Deletion
Male
Christopher 2001
Male
Luke Glickstein 2017
Deletion
14q12
Male
羽 2012
Other
Female
Barrick Bennett 2011
Missense, Unknown
x
Male
Jude 1972
Other
Test
Male
Sara 2005
Female
Paleny Z. 2015
Deletion
Female
Cameron Pate 1997
Frameshift
No report given by clinic
Male
Zoe Livingston 2015
Truncation
C>G
Female
Kaywalin Chutimaporn 2016
Missense
C.644T>C p.(Phe215Ser)
Female
Clemens 2015
Deletion
Male
Thijs 2015
Missense
Male
Lucas Leal 2016
Deletion
Pathogenic change in gene FoxG1, Variant c.506delG p.G169fs Effect: Pathogenic.
Male
Eleanor Andrews 2017
Deletion
14q12
Female
Nathaniel Castillo-Ayala 2014
Duplication
14q12 duplication
Male
Becherelli Caterina 2013
Unknown
mutation c.703C>G p.L235V in eterozigosi
Female
Jonathan 2015
Unknown
Male
Benjamin James 2007
Missense
Male
Lane 2016
Deletion
Male
Giacomo Gregorio 2011
Deletion
Male
Owen 2005
Male
Luiza 2016
Missense
14q29 Gln29Argfs*90
Female
Hugh 2010
Other
Male
Göllner Sebastian 2011
Unknown
Male
Ryan 2011
Other
Délétion
Male
Lottie 2001
Missense
Female
Kaitlynn Weimer 2013
Unknown
Female
Theodor 2011
Male
Lisa 2015
Deletion
Microdelezione foxg1 14q12
Female
Helena 2012
Missense
Female
Hanna 2012
Missense
Female
Megan 2009
Missense
Heteponymous Missenden sequence variant in foxG1 please ASN187Lys
Female
Gabriel 2011
Male
Riley 2013
Missense
c.543G>T de novo heterozygous missense mutation
Male
Stuart 1995
Missense
Male
Bailey 2004
Deletion in long arm of chrom 14
Female
Willy Rayder 2016
Male
Eli 2012
FoxC1 Gene Mutation
Male
Ezekiel 2016
Missense
W380X
Male
Esteban Aparicio Estrada 2013
Insertion
C.1107_1108insG PGlu371Glyfster84
Male
Kyle 2012
Deletion
c.256delC, p.Q86Rfs+106
Male
Abbie 2011
Female
Léa NOBLEAUX 2002
Missense
Hétérozygote p.Arg244Cys
Female
refaeli eitan elbaz 2014
Duplication
Male
ROMAIN heydel 2006
Missense
Male
Chace Rittenberry 2008
Truncation
Male
Parker
Missense
Male
Joanna 2009
Deletion
Female
Jospehine Fishwick 2012
Frameshift
Female
Gabriel 2014
Missense
Male
maayan gez 2010
Female
Samantha Bartlett 1999
Deletion
Chromosome 14
Female
Ayden A. 2013
Missense
Male
Cooper Jaxon Cohen 2015
Nonsense
Male
Ece bekar 2013
Deletion, Unknown
Female
Annika 2012
Deletion
Female
Star Regimbald 2014
Duplication
Female
Nathan vaughan 2011
Insertion, Unknown
Male
Carter 2012
Deletion
Male
Amy Cook 1997
Female
Shannon Bromley 1993
Frameshift
Tba
Female
Cameron Washington 2013
Duplication
Male
Lucy 2007
Missense
Female
Maisy 2008
Deletion
Female
Anonymous 2013
Deletion
Female
Mara Gantenberg 2014
Frameshift, Truncation
Female
Carlos 2009
Other
Male
Anonymous 2000
Male
Anonymous 2016
Duplication, Frameshift
Female
Roni 2015
c.256del (p.Gln86Argfs*106) het.
Female
Dimitri Piccoli Tergolina Chazan 2015
Truncation
Male
Nicholay Kasander Farstad Reinnøk 2016
Other
Male
Enzo Reynier 2013
Missense
p.Trp255Arg
Male
Brody 2016
Deletion
2 Kb, Pathogenic Variant
Male
Natalee H 2011
Frameshift
Female
Rylie 2010
Duplication
Female
Luke 2001
Deletion
Male
Clara 2014
Truncation
Female
Chris 061213
Unknown
Male
Harry Chatterton 2014
Male
Nathalie 2009
Missense
c.713G>A
Female
Liam Bateson 2005
Deletion, Missense
Male
Yuri 2015
Male
Kyler Walsh 2014
Duplication
Male
Annabella Novik 2014
Frameshift
C.732_741del10 (p.H245Tfs*78)
Female
Nate B 2015
Missense
Male
Rafael Contim 2014
Deletion
Male
Amelia 2007
Unknown
Female
Maxwell Jackson 2014
Truncation
267 of Max's amino acids were "lost" due to a stop codon
Male
Ibrahim 2015
Missense
Male
Jasmijn 2014
Female
Zuzia 2013
Unknown
c.563C>A (p.(Ala188Glu))
Female
Ellissa Dodd 2015
Deletion
Female
Autrey Thacker 2001
Deletion
Male
james richard worrell, III 2005
Duplication
c222_223dupGC: p.Pro75ArgfsX118(P75Rfsx118) in exon 1 of the FOX G1 gene
Male
Fleur 2015
Missense
7,2 mb 14q12
Female
Mohamed-Amine
Male
Jacob 2013
Missense
Male
Clarissa 2014
Female
Prairiegirl 2001
Male
Liam 2005
Other
Male
Louis Mank 2015
Deletion
Male
Léon
Deletion
Male
Ziva 2015
Duplication
Female
Benni 2014
Deletion
Male
Aria 2013
Frameshift
Female
Gary Mikelami Sheldon Akima 2012
Unknown
Our Genetic Dr told us it was the gene14 that is mutated causing Gary to have FOXG1.
Male
Paige 2002
Gene: FOXG1; MIM: #164874; Exon: 1; Change: c.672delC; Heterozygous; Pathogenic Variant; Rett syndrome, congenital variant; Autosomal Dominant.
Female
Alyah Gallardo 2007
Female
Angelica 2011
Female
Antoine Raynal 2006
Deletion
Male
GIULIA 2004
Unknown
C.460dup, p.Glu154Gly fs*301
Female
Ava
Female
Leonie
Deletion
Leonardo Nani
It was identified variant c.688C>T heterozygous in FOXG1 gene, promoting the replacement of presents amino acid arginine at position 230 by cysteine (p.Arg230Cys)
Austin H
Male
Adrian
Kush 2011
Deletion
niklas
Leonard Emilian
Male
Adlai Naimi
Lea
Deletion
Kara
Deletion
c385delG
Kirian Moròn Ruiz
Bella G 2010
Deletion
Female
Braxton 2010
Deletion
Liza Molnar
Female
Bo Patterson
Deletion
552_del553
Jared and Amanda
Meredith L.
Truncation
Female
Morgan 2011
Other
Synonymous variant, but has all the typical "FOX" attributes
Isaac Pardon
Male
Jack
Frameshift
Male
Thirza
Francesca
Female
Emma Nd Allison Wells
Xavier
Colton E.
Omer
Manon Audibert
Rebecca
McKenzie
Deletion
Stella R
Gioele
Bethany Metcalfe
Frameshift
Adam K.
Deletion
Male
Ryder
Duplication
Jacob Norwood
Male
Michael A.
Deletion
Connor
Madeline
Beatrice F
Deletion
Kimberly Loftin
Amy and Ben
Duplication, Frameshift
Isabelle B
Bronwyn
Deletion
Claire
Deletion
Connor
Gavin Kimbell
Thomas
Deletion
14q12
Will D.
Duplication
Trent
Truncation
Eila 2003
Duplication
c.460dup p.Glu154Glyfs*301
Abigail
14q12d (5.5mb)
Female
Dylon
Male
Sofia
Deletion
14q12
Female
Faith
Deletion
14q12
Female
Natalia Hernandez
Female
Sheldon Rognstad
Nonsense
Lasse
Deletion
Aurora
Female
Carlie
Tayshaan
Josie Johnson 2012
Missense
W308X
Female
McKenna
Frameshift
c.136dupC
Yannick
c.460dupG; p.E154Gfs*301 (het.)
Male
Sabrina 2012
Duplication
3 copies: 4.3Mb and 4.4Mb
Female