GTR Home > Conditions/Phenotypes > Retinitis pigmentosa 31


Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene. [from MONDO]

Available tests

33 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: LUN, P53BP3, RP31, TP53BPL, TOPORS
    Summary: TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

Clinical features


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