ClinGen Dosage Sensitivity Curation Page

JAM3

  • Curation Status: Complete

Location Information

Select assembly: (NC_000011.9) (NC_000011.10)

Haploinsufficiency phenotype comments:

Variants in JAM3 have been identified in individuals with hemorrhagic destruction of the brain, subependymal calcification, and cataracts (HDBSCC), an autosomal recessive condition.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity