ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000001.10) (NC_000001.11)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
  • Haploinsufficiency Phenotype: C1q DEFICIENCY; C1QD

Haploinsufficiency phenotype comments:

Well documented loss of function mutations in autosomal recessive C1q deficiency. Carriers with no documented phenotype. (see PMID: 24160257, 25454803, 20560256, 2894352).

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

Triplosensitivity phenotype comment:

No publications describing gain of C1qB, duplications are not documented in the Database of Genomic Variants either.