FOXG1 (Forkhead box protein G1) variants and mutations

FOXG1 (also known as Forkhead box protein G1) is a human protein-coding gene encoding a forkhead box protein G1 protein. It controls forebrain progenitor proliferation, neuronal differentiation, and cortical patterning during embryonic development. Haploinsufficiency or dysregulating variants cause FOXG1 syndrome, characterized by severe developmental impairment, absent or limited speech, abnormal movements, and frequent epilepsy. This analysis covers 1,212 FOXG1 variants and mutations. Of these, 77% have computational variant effect predictions. Disease context includes FOXG1 disorder, Rett syndrome, and hereditary disease. Example FOXG1 variants include M1?, M1L, and L2M.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable FOXG1 variants

Examples include M1?, M1L, L2M, L2L, L2V, L2P, D3A, D3E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.