ClinGen Dosage Sensitivity Curation Page
SNURF
- Curation Status: Complete
- id: ISCA-27705
- Date last evaluated: 2012-09-06
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about SNURF at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/8926
- ClinGen Haploinsufficiency Score: 1
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 0.781
- See related regions:
- 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2)
- 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1)
Select assembly:
(NC_000015.9)
(NC_000015.10)
- Haploinsufficiency score: 1
- Strength of Evidence (disclaimer): Little evidence for dosage pathogenicity
| 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