ClinGen Dosage Sensitivity Curation Page

CC2D2A

  • 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 comments:

Mutations in CC2D2A have been associated with Meckel syndrome type 6, Joubert syndrome type 9, and COACH syndrome, all of which are inherited in an autosomal recessive manner.

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