FOXG1 Mutations
This list is periodically updated from the primary MECP2 database, whilst a separate FOXG1 database is being set up and tested. To get the latest FOXG1 mutations or to alter the fields you'd like to have displayed, please search the MECP2 database with the term "FOXG1".
Short Citation | Nucleotide change | Amino acid change | Type of sequence change | Mutation/polymorphism | Phenotype | Sex | Carrier status of family |
---|---|---|---|---|---|---|---|
Directly submitted | FOXG1: c.[563C>G(;)644_645delTCinsCT] | FOXG1: p.[A188G(;)F215S] | missense, in-frame combined insertion and deletion | Mutation associated with disease | Not known | F | mother and father tested normal |
Seltzer et al 24836831 | FOXG1: c.133_469del337insACCCACCGCCCC | FoxG1: p.Pro45Thrfs*39 | frameshift combined insertion and deletion | Mutation associated with disease | Not Rett synd. - FOXG1-related disorder | M | |
De Filippis et al 22091895 | FOXG1: c.136C>T | FoxG1: p.Q46X | nonsense | Mutation associated with disease | Not Rett synd. | F | de novo |
Van der Aa et al 22190898 | FOXG1: c.159_161dupCCA | FOXG1: p.H57dup | in-frame insertion or deletion | Polymorphism not causing disease | Not Rett synd. - early-onset encephalopathy | F | in unaffected father |
Van der Aa et al 22190898 | FOXG1: c.159_161dupCCA | FOXG1: p.H57dup | in-frame insertion or deletion | Polymorphism not causing disease | Not Rett synd. - unaffected family member | M | in daughter with encephalopathy |
Seltzer et al 24836831 | FOXG1: c.222_223dupGC | FoxG1: p.Pro75Argfs*118 | frameshift insertion or duplication | Mutation associated with disease | Not Rett synd. - FOXG1-related disorder | M | |
Seltzer et al 24836831 | FOXG1: c.256C>T | FoxG1: p.Gln86* | nonsense | Mutation associated with disease | Not Rett synd. - FOXG1-related disorder | F | |
Kortum et al 21441262 | FOXG1: c.256C>T | FOXG1: p.Q86X | nonsense | Mutation associated with disease | Rett syndrome - atypical | F | not in mother |
Allou et al 22739344 | FOXG1: c.256delC | FoxG1: p.Q86RfsX106 | frameshift insertion or deletion | Mutation associated with disease | Rett syndrome - atypical | M | de novo |
Allou et al 22739344 | FOXG1: c.256dupC | FoxG1: p.Q86PfsX35 | frameshift insertion or deletion | Mutation associated with disease | Rett syndrome - classical | F | de novo |
Ellaway et al 22968132 | FOXG1: c.256dupC | FoxG1: p.Q86PfsX35 | frameshift insertion or deletion | Mutation associated with disease | Rett syndrome - congenital | F | de novo |
Le Guen et al 20734096 | FOXG1: c.256dupC | FoxG1: p.Q86PfsX35 | frameshift insertion or deletion | Mutation associated with disease | Rett syndrome - congenital | M | absent in both parents |
Takahashi et al 22129046 | FOXG1: c.256dupC | FoxG1: p.Q86PfsX35 | frameshift insertion or deletion | Mutation associated with disease | Rett syndrome - congenital | F | de novo |
Directly submitted | FOXG1: c.263_278del16 | FOXG1: p.R88PfsX99 | frameshift insertion or deletion | Mutation associated with disease | Not known | M | No |
Kortum et al 21441262 | FOXG1: c.263_278del16 | FoxG1: p.R88PfsX99 | frameshift insertion or deletion | Mutation associated with disease | Rett syndrome - atypical | M | de novo |
Le Guen et al 21270142 | FOXG1: c.326C>T | FOXG1: p.P109L | missense | Polymorphism not causing disease | Not Rett synd. - severe microcephaly | F | heterozygous in healthy father |
Le Guen et al 21270142 | FOXG1: c.326C>T | FOXG1: p.P109L | missense | Polymorphism not causing disease | Not Rett synd. - unaffected family member | M | |
Seltzer et al 24836831 | FOXG1: c.430G>T | FoxG1: p.Glu144* | nonsense | Mutation associated with disease | Not Rett synd. - FOXG1-related disorder | M | |
Bahi-Buisson et al 19806373 | FOXG1: c.460dupG | FOXG1: p.E154GfsX301 | frameshift insertion or deletion | Mutation associated with disease | Rett syndrome - congenital | F | de novo |
Kortum et al 21441262 | FOXG1: c.460dupG | FOXG1: p.E154GfsX301 | frameshift insertion or deletion | Mutation associated with disease | Rett syndrome - atypical | M | No |
Kortum et al 21441262 | FOXG1: c.460dupG | FOXG1: p.E154GfsX301 | frameshift insertion or deletion | Mutation associated with disease | Rett syndrome - atypical | F | de novo |
Van der Aa et al 22190898 | FOXG1: c.460dupG | FoxG1: p.E154GfsX301 | frameshift insertion or deletion | Mutation associated with disease | Rett syndrome - classical | F | de novo |
Seltzer et al 24836831 | FOXG1: c.460dupG | FoxG1: p.Glu154Glyfs*301 | frameshift insertion or duplication | Mutation associated with disease | Not Rett synd. - FOXG1-related disorder | M | |
Seltzer et al 24836831 | FOXG1: c.460dupG | FoxG1: p.Glu154Glyfs*301 | frameshift insertion or duplication | Mutation associated with disease | Not Rett synd. - FOXG1-related disorder | M | also present in affected sister |
Seltzer et al 24836831 | FOXG1: c.460dupG | FoxG1: p.Glu154Glyfs*301 | frameshift insertion or duplication | Mutation associated with disease | Not Rett synd. - FOXG1-related disorder | F | |
Seltzer et al 24836831 | FOXG1: c.460dupG | FoxG1: p.Glu154Glyfs*301 | frameshift insertion or duplication | Mutation associated with disease | Not Rett synd. - FOXG1-related disorder | F | also present in affected brother |
Seltzer et al 24836831 | FOXG1: c.460dupG | FoxG1: p.Glu154Glyfs*301 | frameshift insertion or duplication | Mutation associated with disease | Not Rett synd. - FOXG1-related disorder | F | also present in identical twin |
Seltzer et al 24836831 | FOXG1: c.460dupG | FoxG1: p.Glu154Glyfs*301 | frameshift insertion or duplication | Mutation associated with disease | Not Rett synd. - FOXG1-related disorder | F | also present in identical twin |
Direct submission | FOXG1: c.505_506delGGinsT | FoxG1: p.G169SfsX23 | frameshift combined insertion and deletion | Mutation associated with disease | Not known | M | No |
Kortum et al 21441262 | FOXG1: c.505_506delGGinsT | FoxG1: p.G169SfsX23 | frameshift combined insertion and deletion | Mutation associated with disease | Rett syndrome - atypical | M | de novo |
Seltzer et al 24836831 | FOXG1: c.506delG | FoxG1: p.Gly169Alafs*23 | frameshift insertion or duplication | Mutation associated with disease | Not Rett synd. - FOXG1-related disorder | M | |
De Bruyn et al 24388699 | FOXG1:c.506dup | FoxG1:p.Lys170Glnfs*285 | frameshift insertion or deletion | Mutation associated with disease | Not Rett synd. - FOXG1 syndrome | M | healthy parents did not carry FOXG1 mutation |
Seltzer et al 24836831 | FOXG1: c.515_577del63 | FoxG1: p.Gly172_Met192del | in-frame insertion or deletion | Mutation associated with disease | Not Rett synd. - FOXG1-related disorder | F | also present in affected sister |
Seltzer et al 24836831 | FOXG1: c.515_577del63 | FoxG1: p.Gly172_Met192del | in-frame insertion or deletion | Mutation associated with disease | Not Rett synd. - FOXG1-related disorder | F | also present in affected sister |
Mencarelli et al 19578037 | FOXG1: c.552dupC | FoxG1: p.S185QfsX454 | frameshift insertion or deletion | Mutation associated with disease | Rett syndrome - congenital | F | de novo |
Van der Aa et al 22190898 | FOXG1: c.577G>A | FoxG1: p.A193T | missense | Mutation associated with disease | Rett syndrome - congenital | M | de novo |
Seltzer et al 24836831 | FOXG1: c.577G>A | FoxG1: p.Ala193Thr | missense | Mutation associated with disease | Not Rett synd. - FOXG1-related disorder | M | |
Seltzer et al 24836831 | FOXG1: c.586C>T | FoxG1: p.Gln196* | nonsense | Mutation associated with disease | Not Rett synd. - FOXG1-related disorder | M | |
Meneret et al 21953941 | FOXG1: c.610C>T | FoxG1: p.L204F | missense | Mutation associated with disease | Not Rett synd. | F | not found in mother but father not available for testing |
Mencarelli et al 19578037 | FOXG1: c.624C>G | FOXG1: p.Y208X | nonsense | Mutation associated with disease | Rett syndrome - congenital | F | de novo |
Roche-Martinez et al 21488007 | FOXG1: c.624C>G | FoxG1: p.Y208X | nonsense | Mutation associated with disease | Rett syndrome - congenital | F | Not checked |
Mencarelli et al 19578037 | FOXG1: c.643T>C | FOXG1: p.F215L | missense | Mutation associated with disease | Rett syndrome - congenital | F | de novo |
Seltzer et al 24836831 | FOXG1: c.651C>G | FoxG1: p.Tyr217* | nonsense | Mutation associated with disease | Not Rett synd. - FOXG1-related disorder | M | |
Mencarelli et al 19578037 | FOXG1: c.681C>G | FOXG1: p.N227K | missense | Unknown | Rett syndrome - congenital | F | No |
Takahashi et al 22129046 | FOXG1: c.689G>A | FoxG1: p.R230H | missense | Mutation associated with disease | Rett syndrome - congenital | F | de novo |
Kortum et al 21441262 | FOXG1: c.700T>C | FOXG1: p.S234P | missense | Mutation associated with disease | Rett syndrome - atypical | M | de novo |
Le Guen et al 21270142 | FOXG1: c.730C>T | FOXG1: p.R244C | missense | Mutation associated with disease | Rett syndrome - congenital | F | de novo |
Seltzer et al 24836831 | FOXG1: c.735delC | FoxG1: p.Tyr246Thrfs*80 | frameshift insertion or duplication | Mutation associated with disease | Not Rett synd. - FOXG1-related disorder | M | |
Direct submission | FOXG1: c.755G>T | FoxG1: p.G252V | missense | Mutation associated with disease | Not known | F | mother and father tested normal |
Seltzer et al 24836831 | FOXG1: c.755G>T | FoxG1: p.Gly252Val | missense | Mutation associated with disease | Not Rett synd. - FOXG1-related disorder | F | |
Direct submission | FOXG1: c.757A>G | FoxG1: p.N253D | missense | Mutation associated with disease | Not known | F | mother and father tested normal |
Kortum et al 21441262 | FOXG1: c.757A>G | FoxG1: p.N253D | missense | Mutation associated with disease | Rett syndrome - atypical | F | de novo |
Seltzer et al 24836831 | FOXG1: c.762C>G | FoxG1: p.Tyr254* | nonsense | Mutation associated with disease | Not Rett synd. - FOXG1-related disorder | M | |
Ariani et al 18571142 | FOXG1: c.765G>A | FoxG1: p.W255X | nonsense | Mutation associated with disease | Rett syndrome - congenital | F | No |
Das et al 24412290 | FOXG1:c.788_792delACGTG | FOXG1:p.Asp263Valfs*190 | frameshift insertion or deletion | Mutation associated with disease | Rett syndrome - congenital | F | not detected in parents |
Philippe et al 19564653 | FOXG1: c.924G>A | FoxG1: p.W308X | nonsense | Mutation associated with disease | Not Rett synd. - severe Rett-like neurodevelpmental disorder | F | de novo |
Ariani et al 18571142 | FOXG1: c.969delC | FoxG1: p.S323RfsX3 | frameshift insertion or deletion | Mutation associated with disease | Rett syndrome - congenital | F | No |
Diebold et al 24766421 | FOXG1: c.974_975insA | FoxG1: p.Ser326Glufs*129 | frameshift insertion of deletion | Mutation associated with disease | Not Rett synd. - not specified | M | absent in father, mosaic in mother (35.6% leukocytes, 9.7% in fibroblasts) |
De Filippis et al 22091895 | FOXG1: c.1200C>A | FoxG1: p.Y400X | nonsense | Mutation associated with disease | Not Rett synd. | F | de novo |
Philippe et al 19564653 | FOXG1: c.1200C>G | FoxG1: p.Y400X | nonsense | Mutation associated with disease | Rett syndrome - classical | F | de novo |
Bahi-Buisson et al 19806373 | FOXG1: c.1248C>G | FoxG1: p.Y416X | nonsense | Mutation associated with disease | Rett syndrome - congenital | F | de novo |
There are 61 results. This list is last updated on 9th March, 2015. Please go to the primary MECP2 database for the latest updates.