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FOXG1

Chr 14q12

forkhead box G1

Aliases:
HFK2, QIN, BF1, HFK1, HFK3
MANE:
ENST00000313071.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Childhood onset dystonia, chorea or related movement disorder

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Early onset dystonia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Early onset or syndromic epilepsy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Severe microcephaly

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Adult onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

  • FOXG1 disorder

    0.81
  • Rett syndrome

    0.75
  • hereditary disease

    0.54
  • neurodevelopmental disorder

    0.43
  • mathematical ability

    0.43
  • undetermined early-onset epileptic encephalopathy

    0.38
  • atypical Rett syndrome

    0.38
  • placenta praevia

    0.38
  • Strabismus

    0.34
  • Abnormality of the nervous system

    0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Forkhead box protein G1

Transcription repression factor which plays an important role in the establishment of the regional subdivision of the developing brain and in the development of the telencephalon

Curated MONDO disease pages that list FOXG1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.