ClinGen Dosage Sensitivity Curation Page

GUCY2C

  • Curation Status: Complete

Location Information

Select assembly: (NC_000012.11) (NC_000012.12)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

From OMIM 601330: "In affected members of a large pedigree segregating autosomal dominant early-onset chronic diarrhea mapping to chromosome 12p (DIAR6; 614616), Fiskerstrand et al. (2012) identified heterozygosity for a missense mutation in the GUCY2C gene (601330.0001) that was not found in unaffected family members or controls. Functional analysis suggested that the mutation has a gain-of-function effect, increasing ligand-mediated activation of guanylate cyclase-C with subsequent intracellular accumulation of cGMP." Mutations in GUCY2C have also been associated with autosomal recessive meconium ileus (PMID: 22521417).

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