ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000006.11) (NC_000006.12)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: JOUBERT SYNDROME 3; JBTS3

Haploinsufficiency phenotype comments:

Homozygous mutations in AHI1 are found in ~11% of individuals with Joubert syndrome (Parisi et al. J Med Genet 2006;43:334-339), an autosomal recessive brain disorder. Missense mutations and small insertions comprise the majority of the mutations described in AHI1. Given that AHI1 is only associated with autosomal recessive disease and that gross deletions are not part of the mutational spectrum, it is not appropriate to target this gene at this time.

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