ClinGen Dosage Sensitivity Curation Page

CRYGC

  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Heterozygous frameshift and nonsense mutations have been reported in families with autosomal dominant congenital cataracts, PMIDs: 10914683, 23508780, 23441109, 22876111, 19204787, 18618005. However, studies suggest that the truncated proteins these mutations result in are stable and lead to increased cytoplasmic localization and the accumulations of protein aggregates that produce scattering particles (Ren, PMID:10914683 and Talla, PMID:18421082). This indicates a gain of function as a cause of congenital cataracts. It is not clear that a whole gene deletion or mutation that results in loss of protein would have this same effect.

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