ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000017.10) (NC_000017.11)
Evidence for haploinsufficiency phenotype
PubMed ID Description
9067755 Korkko et al. (1997) analyzed COL1A1 in 8 patients with OI type I and found several mutations, including a ARG963TER mutation in 2 unrelated affected individuals and a 1 bp deletion resulting in a premature stop codon.
9016532 Dalgleish (1997) describes a mutation database for COL1A1 and COL1A2, including 6 frameshift mutations in COL1A1 and 7 deletions in COL1A1.

Haploinsufficiency phenotype comments:

Mutations are associated with Osteogenesis imperfecta I-IV. There is a wide phenotypic spectrum.

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

Triplosensitivity phenotype comment:

PMID: 19449402 Zahir et al. (2009) report a de novo 1.1 Mb duplication involving multiple genes including COL1A1 in a patient with mild cognitive impairment, deafness, microcephaly, scoliosis and other skeletal defects. The authors propose 2 candidate genes in the association of the patient's phenotype, including COL1A1 for the skeletal issues.