ClinGen Dosage Sensitivity Curation Page

BBS12

  • Curation Status: Complete

Location Information

Select assembly: (NC_000004.11) (NC_000004.12)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: BARDET-BIEDL SYNDROME 12; BBS12
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity