ClinGen Dosage Sensitivity Curation Page

ADAM9

  • Curation Status: Complete

Location Information

Select assembly: (NC_000008.10) (NC_000008.11)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: CONE-ROD DYSTROPHY 9; CORD9

Haploinsufficiency phenotype comments:

Biallelic loss of function mutations are associated with autosomal recessive cone-rod dystrophy in several families. See PMIDs: 25091951, 19409519.

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