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SPATC1L

Chr 21q22.3

spermatogenesis and centriole associated 1 like

MANE:
ENST00000291672.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Monogenic hearing loss

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodegenerative disease

    0.30
  • chronic laryngitis

    0.26
  • placental abruption

    0.26
  • deafness

    0.18
  • spermatogenic failure

    0.10
  • spermatogenic failure 20

    0.07
  • spermatogenic failure 42

    0.07
  • spermatogenic failure 82

    0.07
  • spermatogenic failure 72

    0.06
  • spermatogenic failure 49

    0.06

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

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.