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    Mutation profile of BBS genes in Iranian patients with Bardet–Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes
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    1. ClingenBaseline 21 Oct 2026
      Mutation profile of BBS genes in Iranian patients with Bardet–Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes

      PMID: 24849935

      Gene: BBS7

      HGNC: 18758

      Disease: Bardet-Biedl syndrome 7

      MONDO: 0014435

      InheritancePattern: autosomal recessive

      Prevalence: The prevalence of BBS7 variants among Bardet-Biedl syndrome cohorts has been reported at 4.2% (PMID: 19402160), while the prevalence of Bardet-Biedl syndrome overall has been estimated between 1 in 13,500 and 1 in 160,000 live births, depending on the population (PMID: 22713813).

      Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.

      General ClinGen Gene:BB7 HGNC:18758 inferred_gene_hgnc:18758 inferred_gene_source:hgnc_tag Retina GCEP
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    nature.com/articles/jhg201428