Gene: FOXG1

Alternate names for this Gene: BF1|BF2|FHKL3|FKH2|FKHL1|FKHL2|FKHL3|FKHL4|FOXG1A|FOXG1B|FOXG1C|HBF-1|HBF-2|HBF-3|HBF-G2|HBF2|HFK1|HFK2|HFK3|KHL2|QIN

Gene Summary: This locus encodes a member of the fork-head transcription factor family. The encoded protein, which functions as a transcriptional repressor, is highly expressed in neural tissues during brain development. Mutations at this locus have been associated with Rett syndrome and a diverse spectrum of neurodevelopmental disorders defined as part of the FOXG1 syndrome. This gene is disregulated in many types of cancer and is the target of multiple microRNAs that regulate the proliferation of tumor cells.

Gene is located in Chromosome: 14

Location in Chromosome : 14q12

Description of this Gene: forkhead box G1

Type of Gene: protein-coding

rs1555321367 in FOXG1 gene and Dysmorphic features PMID 19578037 2010 Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

PMID 28544139 2017 RettBASE: Rett syndrome database update.

PMID 27640358 2016 Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.

PMID 18571142 2008 FOXG1 is responsible for the congenital variant of Rett syndrome.

PMID 22998673 2012 Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.

PMID 27001178 2016 Visual impairment in FOXG1-mutated individuals and mice.

PMID 20356955 2010 FoxG1 and TLE2 act cooperatively to regulate ventral telencephalon formation.

PMID 24836831 2014 Epilepsy and outcome in FOXG1-related disorders.

PMID 21441262 2011 The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.

PMID 2760358 1989 Prospective observations on stopping prolonged venom immunotherapy.

PMID 26344814 2016 The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.

PMID 26364767 2015 Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

PMID 27029630 2016 Delineation of the movement disorders associated with FOXG1 mutations.

PMID 24766421 2014 Somatic mosaicism for a FOXG1 mutation: diagnostic implication.

PMID 25565401 2015 Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy.

rs1555321206 in FOXG1 gene and FOXG1 syndrome PMID 24836831 2014 Epilepsy and outcome in FOXG1-related disorders.

PMID 18571142 2008 FOXG1 is responsible for the congenital variant of Rett syndrome.

PMID 27029630 2016 Delineation of the movement disorders associated with FOXG1 mutations.

PMID 19578037 2010 Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

PMID 21280142 2011 A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 28851325 2017 Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation.

PMID 26344814 2016 The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.

PMID 19806373 2010 Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.

PMID 21441262 2011 The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.

PMID 19564653 2010 Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females.

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 22739344 2012 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.

PMID 22091895 2012 Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics.

PMID 24901346 2014 The usefulness of whole-exome sequencing in routine clinical practice.

rs767961672 in FOXG1 gene and Generalized hypotonia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs767961672 in FOXG1 gene and Microcephaly (physical finding) PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs767961672 in FOXG1 gene and Moderate intellectual disability PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs796052462 in FOXG1 gene and Multiple congenital anomalies PMID 24836831 2014 Epilepsy and outcome in FOXG1-related disorders.

PMID 25565401 2015 Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy.

PMID 20356955 2010 FoxG1 and TLE2 act cooperatively to regulate ventral telencephalon formation.

PMID 18571142 2008 FOXG1 is responsible for the congenital variant of Rett syndrome.

PMID 19578037 2010 Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

PMID 22998673 2012 Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.

PMID 24766421 2014 Somatic mosaicism for a FOXG1 mutation: diagnostic implication.

PMID 26364767 2015 Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

PMID 27029630 2016 Delineation of the movement disorders associated with FOXG1 mutations.

PMID 21441262 2011 The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.

PMID 2760358 1989 Prospective observations on stopping prolonged venom immunotherapy.

PMID 27001178 2016 Visual impairment in FOXG1-mutated individuals and mice.

PMID 27640358 2016 Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.

PMID 28544139 2017 RettBASE: Rett syndrome database update.

PMID 26344814 2016 The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.

rs1555321345 in FOXG1 gene and Muscle hypotonia PMID 21441262 2011 The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.

PMID 20356955 2010 FoxG1 and TLE2 act cooperatively to regulate ventral telencephalon formation.

PMID 24766421 2014 Somatic mosaicism for a FOXG1 mutation: diagnostic implication.

PMID 19578037 2010 Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

PMID 22998673 2012 Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.

PMID 18571142 2008 FOXG1 is responsible for the congenital variant of Rett syndrome.

PMID 25565401 2015 Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy.

PMID 27001178 2016 Visual impairment in FOXG1-mutated individuals and mice.

PMID 28544139 2017 RettBASE: Rett syndrome database update.

PMID 24836831 2014 Epilepsy and outcome in FOXG1-related disorders.

PMID 27029630 2016 Delineation of the movement disorders associated with FOXG1 mutations.

PMID 2760358 1989 Prospective observations on stopping prolonged venom immunotherapy.

PMID 26344814 2016 The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.

PMID 26364767 2015 Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

PMID 27640358 2016 Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.