ClinGen Dosage Sensitivity Curation Page

SNRPN

  • Curation Status: Complete

Location Information

Select assembly: (NC_000015.9) (NC_000015.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

No focal deletion or loss of function mutations have been described for SNURF/SNRPN (although present in the common microdeletion region asscoiated with Prader-Willi and Angelman syndromes), resulting in a haploinsufficiency score of 0. However, Naike et al (2012) report a small duplication in exon 1 of the SNURF/SNRPN gene which is predicted to interrupt SNURF expression (approximate boundaries of dup: chr15:25200032-25200322 [hg19]). The patient was investigated due to overgrowth, increased appetite and developmental delay in childhood. This duplication was inherited from her father who carries the duplication on his paternal chromosome 15 and also had transient excessive eating behaviour as an adolescent. RNA studies showed that the duplication introduces a premature stop codon in SNURF (PMID:22511895). A translocation breakpoint was reported by Wirth et al (2001) disrupting 3' exons of the SNURF/SNRPN gene in a female patient with atypical PWS demonstrated by RT-PCR to prevent expression of distal snoRNA gene cluster HB11-85 (now named SNORD116) (PMID: 11159938)

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Evidence for triplosensitivity phenotype
PubMed ID Description
No focal whole gene duplication duplication has been described for SNURF/SNRPN (although present in the common microdeletion region asscoiated with Prader-Willi and Angelman syndromes), resulting in a triplosensitivity score of 0.