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GenoLensGenoLens

STRC

Chr 15q15.3

stereocilin

MANE:
ENST00000450892.7

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Monogenic hearing loss

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hearing loss, autosomal recessive

    0.71
  • Rare genetic deafness

    0.67
  • deafness-infertility syndrome

    0.59
  • nonsyndromic genetic hearing loss

    0.52
  • hereditary disease

    0.45
  • autosomal dominant nonsyndromic hearing loss

    0.45
  • spermatogenic failure 7

    0.44
  • Non-syndromic genetic deafness

    0.39
  • deafness

    0.36
  • Hearing impairment

    0.12

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

Protein function (UniProt)

Stereocilin

Essential to the formation of horizontal top connectors between outer hair cell stereocilia

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.