ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000015.9) (NC_000015.10)
  • Haploinsufficiency score: 1
  • Strength of Evidence (disclaimer): Little evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
22511895 Naik et al. (2012) describe a proband with excessive eating and speech delay. They found a paternally inherited 25 bp tandem duplication in exon 1 of SNURF. The duplication was predicted to cause a frameshift and premature stop codon of SNURF, but was not expected to affect SNRPN. The father also reportedly had excessive eating habits as a child and a mild learning disability.

Haploinsufficiency phenotype comments:

Izzi et al. (2012) PMID: 22679513 performed methylation studies of IGF2, H19, SNURF and GRB10 in 17 patients with Albright's Hereditary Osteodystrophy-like phenotype. They found a significant hypomethylation in SNURF in patients (p=0.001). Linking this finding to the clinical finding still needs to be addressed.

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