SNURF
  • 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SNURF (HGNC:11171) HGNC Entrez Ensembl UCSC GeneReviews LOVD LSDB ClinVar
HGNC Name
SNRPN upstream open reading frame
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
0(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.12(Read more about gnomAD pLI score)
LOEUF
0.97(Read more about gnomAD LOEUF score)
Cytoband
15q11.2
Genomic Coordinates
GRCh37/hg19: chr15:25200134-25223870 NCBI Ensembl UCSC
GRCh38/hg38: chr15:24954987-24978723 NCBI Ensembl UCSC
MANE Select Transcript
NM_001394334.1 ENST00000577949.6 (Read more about MANE Select)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-27705
ClinGen Curation ID:
CCID:007914
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
03/28/2023

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 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.
  • PUBMED: 28554868
    Cao et al. (2017) reported a female patient with ID, obesity and dysmorphic facial feature consistent with the phenotype of PWS. Chromosomal microarray identified a 3.4 kb deletion in 15q11.2 region encompassing exon 1 of the SNURF gene. Parental microarray confirmed that the deletion was de novo. Moreover, MS-MLPA studies showed that the deleted part was paternally inherited. Sanger sequencing confirmed that the deletion is 6.4kb (chr15:25, 194, 667e25,201,058, genome build hg 19).
  • PUBMED: 27659713
    Hassan and Butler (2016) reported a follow-up of a patient previously reported in 1996 after further testing. She had hypotonia and micrognathia as a newborn, then suffered from obesity, hypothyroidism, mild ID (IQ 73) and seizure. She was diagnosed with a high-functioning PWS. A high-resolution microarray identified a 209,819 base pairs deletion encompassing the SNURF-SNRPN gene and non-coding RNAs distal to it. DNA methylation using MS-MLPA showed a pattern consistent with the diagnosis of PWS. The deletion was detected in the father, however, methylation analysis was normal in the father.
  • PUBMED: 24311433
    Anderlid et al. (2014) reported a male patient with delayed speech, learning disability, obesity, short stature, hypogonadism, and short hands and feet, described as a typical PWS phenotype. Array-CGH detected an 846 kb deletion encompassing SNURF-SNRPN, the snoRNA clusters SNORD116, SNORD115, SNORD109 A and B, SNORD64 and NPAP1. The patient showed mosaicism for this deletion. FISH studies confirmed the deletion and that it was present in 58% of the leucocytes studied, parental microarray indicates that the deletion was de novo. MLPA studies indicated that the deletion allele was of paternal origin.
HI Evidence Comments:
SNURF gene (SNRPN upstream open reading frame) is located within the Prader-Willi Syndrome critical region on chromosome 15, known as the PWS imprinting center. SNRPN, or SNURF-SNRPN, is a bicistronic imprinted gene that encodes 2 polypeptides, the SmN splicing factor, which is involved in RNA processing, and the SNRPN upstream reading frame (SNURF) protein. The SNURF gene is transcribed exclusively from the paternally inherited allele. Alterations in the imprinting center may cause Angelman syndrome or Prader-Willi syndrome. Please see the separate dosage sensitivity evaluations of the larger 15q11.2 regions for additional evidence. Deletions encompassing either the whole or part of the SNURF gene alone (i.e., not also including SNRPN) have been reported in 2 different cases with a phenotype consistent with PWS. One case was de novo and the second one was paternally inherited, however, the father showed a normal methylation pattern. 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 (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000015.9) (NC_000015.10)