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ADAMTS10

Chr 19p13.2

ADAM metallopeptidase with thrombospondin type 1 motif 10

Aliases:
ADAM-TS10
MANE:
ENST00000597188.6

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Arthrogryposis

    BIALLELIC, autosomal or pseudoautosomal
  • Bilateral congenital or childhood onset cataracts

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Glaucoma (developmental)

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Structural eye disease

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Weill-Marchesani syndrome

    0.76
  • Abnormality of the skeletal system

    0.58
  • carpal tunnel syndrome

    0.50
  • atrial fibrillation

    0.47
  • peripheral nervous system disorder

    0.33
  • mononeuropathy

    0.33
  • hereditary disease

    0.19
  • smoking behavior

    0.09
  • Peters anomaly

    0.07
  • isolated aniridia

    0.07

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

Protein function (UniProt)

A disintegrin and metalloproteinase with thrombospondin motifs 10

Metalloprotease that participate in microfibrils assembly. Microfibrils are extracellular matrix components occurring independently or along with elastin in the formation of elastic tissues

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.