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GenoLensGenoLens

OTOGL

Chr 12q21.31

otogelin like

Aliases:
FLJ90579
MANE:
ENST00000547103.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Monogenic hearing loss

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hearing loss, autosomal recessive

    0.73
  • Rare genetic deafness

    0.53
  • vestibular disorder

    0.46
  • nonsyndromic genetic hearing loss

    0.44
  • central nervous system origin vertigo

    0.44
  • peripheral vertigo

    0.44
  • Vertigo

    0.43
  • Non-syndromic genetic deafness

    0.38
  • hereditary disease

    0.34
  • inner ear disorder

    0.31

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

Curated MONDO disease pages that list OTOGL 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.