FOXG1 Chromosome 14

Forkhead box G1
235 variants 235 Health Risk

Upload your DNA to see your personal genotypes for variants in FOXG1.

What This Gene Does
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. [provided by RefSeq, Jul 2020]
Gene Info
Gene Group
Forkhead boxes
Locus Type
gene with protein product
Location
14q12
Ensembl
ENSG00000176165
Associated Conditions (18)
FOXG1 disorder
Inborn genetic diseases
Primary microcephaly
Severe intellectual disability
Aplasia/Hypoplasia of the corpus callosum
Rett syndrome
Lissencephaly
FOXG1-related disorder
Intellectual disability
Neurodevelopmental disorder
Strabismus
Abnormal optic nerve morphology
Global developmental delay
Axial hypotonia
Stereotypic movement disorder
Abnormal cerebral morphology
Abnormality of the nervous system
Severe intellectual deficiency
Key Variants
RS1001642335
Conflicting classifications of pathogenicity
FOXG1 disorder, FOXG1 disorder
Health Risk
RS1206977063
Conflicting classifications of pathogenicity
FOXG1 disorder, Inborn genetic diseases, FOXG1 disorder
Health Risk
RS1233541390
Conflicting classifications of pathogenicity
Inborn genetic diseases, FOXG1 disorder, Inborn genetic diseases
Health Risk
RS1268719113
Conflicting classifications of pathogenicity
FOXG1 disorder, Inborn genetic diseases, FOXG1 disorder
Health Risk
RS1274087980
Conflicting classifications of pathogenicity
FOXG1 disorder, FOXG1 disorder
Health Risk
RS1288532385
Conflicting classifications of pathogenicity
FOXG1 disorder, Inborn genetic diseases, FOXG1 disorder
Health Risk
RS1311321396
Conflicting classifications of pathogenicity
FOXG1 disorder, FOXG1 disorder
Health Risk
RS1319234983
Conflicting classifications of pathogenicity
FOXG1 disorder, FOXG1 disorder
Health Risk
RS1555321376
Conflicting classifications of pathogenicity
FOXG1 disorder, FOXG1 disorder
Health Risk
RS1594384127
Conflicting classifications of pathogenicity
FOXG1 disorder, FOXG1 disorder
Health Risk
RS201024952
Conflicting classifications of pathogenicity
FOXG1 disorder, FOXG1 disorder
Health Risk
RS2138660646
Conflicting classifications of pathogenicity
FOXG1 disorder, FOXG1 disorder
Health Risk
All Variants (235)
RSID Category Clinical Significance Conditions
RS1555321366 Health Risk Pathogenic —
RS1555321367 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555321380 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS1555321382 Health Risk Pathogenic FOXG1 disorder, Rett syndrome, FOXG1 disorder
RS1555321400 Health Risk Pathogenic —
RS1555321405 Health Risk Pathogenic Inborn genetic diseases, FOXG1 disorder, Inborn genetic diseases
RS1566445169 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS1566445533 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS1594382746 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS1594382930 Health Risk Pathogenic —
RS1594383056 Health Risk Pathogenic —
RS1594383538 Health Risk Pathogenic —
RS1594383576 Health Risk Pathogenic —
RS1594383648 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS1594383773 Health Risk Pathogenic —
RS1594383798 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS1594384015 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS1881788747 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS1881793162 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS1881812495 Health Risk Pathogenic —
RS1881816066 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS1881817310 Health Risk Pathogenic FOXG1 disorder, Inborn genetic diseases, FOXG1 disorder
RS1881819022 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS1881820386 Health Risk Pathogenic —
RS1881828200 Health Risk Pathogenic FOXG1 disorder, Neurodevelopmental disorder, FOXG1 disorder
RS2138660395 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138660457 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138660687 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138660748 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138660947 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138660968 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138661043 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2138661070 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138661094 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138661139 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138661191 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138661203 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder, FOXG1 disorder
RS2138661224 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138661266 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138661305 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138661370 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138661375 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138661390 Health Risk Pathogenic Rett syndrome, Rett syndrome, Rett syndrome
RS2138661547 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138661742 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138661744 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS2138661778 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138661811 Health Risk Pathogenic FOXG1 disorder, Rett syndrome, FOXG1 disorder
RS2138661946 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2138661969 Health Risk Pathogenic —
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