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GTR Home > Conditions/Phenotypes > Retinitis pigmentosa 76

Retinitis pigmentosa 76

Summary

Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene. [from MONDO]

Available tests

34 tests are in the database for this condition.

Clinical tests (34 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GNTI.2, GnT I.2, LGMD2O, LGMDR15, MEB, MGAT1.2, RP76, gnT-I.2, POMGNT1
    Summary: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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