FOXG1, forkhead box G1, 2290

N. diseases: 224; N. variants: 51
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 GeneticVariation group BEFREE We recommend that patients with congenital RTT and Rett-like MR, especially those with brain malformations, such as hypoplasia of the corpus callosum, should be tested for FOXG1 mutations. 28851325 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.360 Biomarker disease BEFREE Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. 20736978 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.360 Biomarker disease BEFREE It is now clearly emerging that epilepsy has distinctive characteristics in typical Rett syndrome and in the different syndromes caused by CDKL5 and FOXG1 gene alterations. 22998673 2012
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.360 GeneticVariation disease BEFREE Epilepsy in patients with duplications of chromosome 14 harboring FOXG1. 24731847 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.360 Biomarker disease BEFREE The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy. 26344814 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.360 GeneticVariation disease BEFREE All patients underwent video/EEG monitoring and molecular analysis of the MECP2 gene or, in negative cases, of the CDKL5 and FOXG1 genes.The frequency of epilepsy was 79%. 20728410 2010
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.360 Biomarker disease BEFREE The mean age of epilepsy diagnosis in FOXG1 duplications was significantly younger than those with deletions/intragenic mutations (p = 0.0002). 24836831 2014
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.350 Biomarker group BEFREE To assess the pattern of disorder-related missense mutations of NDD-related FOX genes, we manually curated de novo and inherited missense or inframeshift variants within FOXP1, FOXP2, and FOXG1 that co-segregated with phenotypes in NDDs.All variants were annotated by ANNOVAR. 31199603 2019
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.350 GeneticVariation group BEFREE Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that is caused by mutations in the MECP2 gene; however, defects in other genes (CDKL5 and FOXG1) can lead to presentations that resemble classic RTT, although they are not completely identical. 31105003 2019
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.350 GeneticVariation group BEFREE Rett syndrome (RTT), a neurodevelopmental disorder affecting exclusively (99%) female infants, is associated with loss-of-function mutations in the gene encoding methyl-CpG binding protein 2 (MECP2) and, more rarely, cyclin-dependent kinase-like 5 (CDKL5) and forkhead box protein G1 (FOXG1). 25389532 2014
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.350 Biomarker group BEFREE It has been established that alterations in cyclin-dependent kinase-like 5 (<i>CDKL5</i>) or forkhead box protein G1 (<i>FOXG1</i>) correspond to distinct neurodevelopmental disorders, given that a series of studies have indicated that RTT is also caused by alterations in either one of these genes. 31717404 2019
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.350 Biomarker group BEFREE The FOXG1 protein plays an important role in early neural development and in a variety of neurodevelopmental disorders. 30336149 2019
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		0.340 Biomarker disease BEFREE The progressive parting of CDKL5- and FOXG1-gene-related encephalopathies from the core Rett syndrome is reflected by the effort to produce clearer diagnostic criteria for typical and atypical Rett syndrome. 22998673 2012
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		0.340 GeneticVariation disease BEFREE However, mutations in FOXG1 cause a less frequent form of atypical Rett syndrome, called FOXG1 syndrome. 30539330 2019
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		0.340 GeneticVariation disease BEFREE Hypoplastic hippocampus in atypical Rett syndrome with a novel FOXG1 mutation. 28781028 2018
CUI: C2748910
Disease: Rett Syndrome, Atypical
Rett Syndrome, Atypical 		0.340 GeneticVariation disease BEFREE Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature. 19623215 2009
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		0.310 GeneticVariation phenotype BEFREE In this report we describe a female child with global developmental delay, microcephaly and myoclonic seizures harbouring a 5 Mb deletion in 14q12 locus resulting in deletion of single copy of brain specific genes FOXG1, PRKD1 and NOVA1. 29920362 2018
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.300 GeneticVariation disease BEFREE Our finding provides additional evidence that not only over-dosage of FOXG1 as previously mentioned, under-dosage of FOXG1 is also associated with phenotype, overlapping between congenital variant of Rett syndrome with FOXG1 mutations and 14q12 microdeletion, not including the coding region of FOXG1. 23895774 2013
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.300 GeneticVariation disease BEFREE Rett syndrome (RTT), a neurodevelopmental disorder affecting exclusively (99%) female infants, is associated with loss-of-function mutations in the gene encoding methyl-CpG binding protein 2 (MECP2) and, more rarely, cyclin-dependent kinase-like 5 (CDKL5) and forkhead box protein G1 (FOXG1). 25389532 2014
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.300 GeneticVariation disease BEFREE We have identified a novel mutation (p. D263VfsX190) in FOXG1 gene in a patient with congenital variant of Rett syndrome. 24412290 2014
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.300 GeneticVariation disease BEFREE Among these are classic disorders such as Angelman syndrome and MECP2-related disorder (formerly Rett syndrome), as well as more recently described clinical entities associated with mutations in CASK, CDKL5, CREBBP, and EP300 (Rubinstein-Taybi syndrome), FOXG1, SLC9A6 (Christianson syndrome), and TCF4 (Pitt-Hopkins syndrome). 24839169 2014
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.300 Biomarker disease BEFREE Thus, we hypothesize that FOXG1 might be a new candidate gene in the etiology of LGS and suggest screening for this gene in cases of LGS with concomitant microcephaly and clinical features overlapping with Rett syndrome. 25266269 2014
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.300 GeneticVariation disease BEFREE Submicroscopic deletions in 14q12 spanning FOXG1 or intragenic mutations have been reported in patients with a developmental disorder described as a congenital variant of Rett syndrome. 21441262 2011
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.300 GeneticVariation disease BEFREE In addition to a FOXG1 mutation in a patient with all core features of the congenital variant of RTT, we identified a missense (p.Ser240Thr) in CDKL5 in a patient who appeared to be seizure free. 27062609 2017
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.300 GeneticVariation disease BEFREE The forkhead box G1 (FOXG1)gene has recently been associated with the congenital variant of Rett syndrome, and so far 17 mutations have been reported. 21280142 2011