ClinGen Dosage Sensitivity Curation Page

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BBS5

  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: BARDET-BIEDL SYNDROME 5; BBS5

Haploinsufficiency phenotype comments:

Variants in BBS5 have been reported in individuals with Bardet-Biedl syndrome, an autosomal recessive condition.

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