FOXG1 Chromosome 14
Forkhead box G1
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 |
|---|---|---|---|
| RS2138661880 | Health Risk | Likely pathogenic | FOXG1 disorder, FOXG1 disorder |
| RS2502223818 | Health Risk | Likely pathogenic | FOXG1 disorder, FOXG1 disorder |
| RS2502224452 | Health Risk | Likely pathogenic | FOXG1-related disorder, FOXG1-related disorder |
| RS2502224718 | Health Risk | Likely pathogenic | FOXG1 disorder, FOXG1 disorder |
| RS2502224855 | Health Risk | Likely pathogenic | FOXG1 disorder, FOXG1 disorder |
| RS2502224874 | Health Risk | Likely pathogenic | FOXG1 disorder, FOXG1 disorder |
| RS2502225892 | Health Risk | Likely pathogenic | FOXG1 disorder, FOXG1 disorder |
| RS2502226013 | Health Risk | Likely pathogenic | FOXG1 disorder, FOXG1 disorder |
| RS2502226243 | Health Risk | Likely pathogenic | FOXG1 disorder, FOXG1 disorder |
| RS2502226255 | Health Risk | Likely pathogenic | FOXG1 disorder, FOXG1 disorder |
| RS2502226343 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2502226349 | Health Risk | Likely pathogenic | FOXG1 disorder, FOXG1 disorder |
| RS2502226571 | Health Risk | Likely pathogenic | FOXG1 disorder, FOXG1 disorder |
| RS2502226577 | Health Risk | Likely pathogenic | FOXG1 disorder, FOXG1 disorder |
| RS2502226706 | Health Risk | Likely pathogenic | FOXG1 disorder, FOXG1 disorder |
| RS2502227044 | Health Risk | Likely pathogenic | FOXG1 disorder, FOXG1 disorder |
| RS2502227229 | Health Risk | Likely pathogenic | FOXG1-related disorder, FOXG1-related disorder |
| RS2502228152 | Health Risk | Likely pathogenic | FOXG1 disorder, FOXG1 disorder |
| RS267606828 | Health Risk | Likely pathogenic | FOXG1 disorder, FOXG1 disorder, FOXG1 disorder |
| RS587783638 | Health Risk | Likely pathogenic | FOXG1 disorder, FOXG1 disorder, Rett syndrome |
| RS587783640 | Health Risk | Likely pathogenic | FOXG1 disorder, Intellectual disability, FOXG1 disorder |
| RS727503935 | Health Risk | Likely pathogenic | FOXG1 disorder, Rett syndrome, FOXG1 disorder |
| RS767873754 | Health Risk | Likely pathogenic | FOXG1 disorder, FOXG1 disorder, FOXG1 disorder |
| RS796052469 | Health Risk | Likely pathogenic | FOXG1 disorder, FOXG1 disorder |
| RS796052481 | Health Risk | Likely pathogenic | — |
| RS796052484 | Health Risk | Likely pathogenic | — |
| RS879255530 | Health Risk | Likely pathogenic | FOXG1 disorder, FOXG1 disorder |
| RS1057517859 | Health Risk | Pathogenic | — |
| RS1057518165 | Health Risk | Pathogenic | FOXG1 disorder, FOXG1 disorder, FOXG1 disorder |
| RS1057518196 | Health Risk | Pathogenic | — |
| RS1057520663 | Health Risk | Pathogenic | FOXG1 disorder, FOXG1 disorder |
| RS1057520780 | Health Risk | Pathogenic | FOXG1 disorder, FOXG1-related disorder, FOXG1 disorder |
| RS1064793481 | Health Risk | Pathogenic | — |
| RS1064797030 | Health Risk | Pathogenic | — |
| RS1085307753 | Health Risk | Pathogenic | — |
| RS1131691540 | Health Risk | Pathogenic | FOXG1 disorder, FOXG1 disorder |
| RS121913678 | Health Risk | Pathogenic | FOXG1 disorder, FOXG1 disorder, FOXG1 disorder |
| RS1240929961 | Health Risk | Pathogenic | FOXG1 disorder, FOXG1 disorder |
| RS138747073 | Health Risk | Pathogenic | FOXG1 disorder, FOXG1 disorder, FOXG1 disorder |
| RS1392520466 | Health Risk | Pathogenic | FOXG1 disorder, FOXG1 disorder |
| RS1452295073 | Health Risk | Pathogenic | FOXG1 disorder, Inborn genetic diseases, FOXG1 disorder |
| RS1555321206 | Health Risk | Pathogenic | FOXG1 disorder, FOXG1 disorder |
| RS1555321237 | Health Risk | Pathogenic | FOXG1 disorder, FOXG1 disorder |
| RS1555321264 | Health Risk | Pathogenic | — |
| RS1555321279 | Health Risk | Pathogenic | — |
| RS1555321294 | Health Risk | Pathogenic | FOXG1 disorder, FOXG1 disorder |
| RS1555321308 | Health Risk | Pathogenic | FOXG1 disorder, FOXG1 disorder, FOXG1 disorder |
| RS1555321334 | Health Risk | Pathogenic | Inborn genetic diseases, FOXG1 disorder, Inborn genetic diseases |
| RS1555321339 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555321345 | Health Risk | Pathogenic | Inborn genetic diseases, FOXG1 disorder, Inborn genetic diseases |