Skip to content
GenoLensGenoLens

FAT1

Chr 4q35.2

FAT atypical cadherin 1

Aliases:
CDHF7, CDHR8
MANE:
ENST00000441802.7
OMIM: 600976 ↗NCBI: 2195 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Anophthalmia or microphthalmia

    BIALLELIC, autosomal or pseudoautosomal

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Proteinuric renal disease

    BIALLELIC, autosomal or pseudoautosomal

  • Structural eye disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • head and neck squamous cell carcinoma

    0.66

  • squamous cell lung carcinoma

    0.53

  • cervical squamous cell carcinoma

    0.50

  • hereditary disease

    0.47

  • nasopharyngeal neoplasm

    0.46

  • urinary bladder cancer

    0.46

  • cutaneous squamous cell carcinoma

    0.46

  • focal segmental glomerulosclerosis

    0.40

  • nephrotic syndrome

    0.40

  • non-small cell lung carcinoma

    0.40

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

Protein function (UniProt)

Protocadherin Fat 1

Plays an essential role for cellular polarization, directed cell migration and modulating cell-cell contact

Diseases associated with FAT1

Curated MONDO disease pages that list FAT1 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.