ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)
  • Haploinsufficiency score: 2
  • Strength of Evidence (disclaimer): Some evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
11062482 First report of this mutation: Bamford (2000): Identified a heterozygous 1-bp deletion (522delC) in CFC1, resulting in a frameshift that terminated 55 codons downstream of the deletion, in 2 unrelated probands with left-right axis abnormalities. For one proband, the mutation was inherited from a phenotypically normal parent. Second report of this mutation: Goldmuntz (2002: see below) identified the same mutation in a proband with DORV. This mutation was maternally inherited. The mutation was not present in 200 normal chromosomes.
11799476 Goldmuntz (2002): Identified a splice-site mutation in CFC1 in a proband with DTGA2. The mutation was not present in 200 normal chromosomes.
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity