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  3. SNRPN
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Genomic imprinting

Gene: SNRPN

Green List (high evidence)
SNRPN (small nuclear ribonucleoprotein polypeptide N)
EnsemblGeneIds (GRCh38): ENSG00000128739
EnsemblGeneIds (GRCh37): ENSG00000128739
OMIM: 182279, Gene2Phenotype
SNRPN is in 1 panel

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. Numerous cases of variants, including deletions of SNRPN have been reported (PMID: 29437285;34200226;34099539).
Created: 21 Jan 2022, 8:53 a.m. | Last Modified: 21 Jan 2022, 8:53 a.m.
Panel Version: 0.129
Circadian expression reported in CircaDB (http://circadb.hogeneschlab.org/human)
Created: 22 Dec 2020, 6:10 p.m. | Last Modified: 22 Dec 2020, 6:10 p.m.
Panel Version: 0.26

Publications

Created: 22 Dec 2020, 6:10 p.m.
Last Modified: 22 Dec 2020, 6:10 p.m.
Panel version: 0.129

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Prader-Willi syndrome, OMIM:176270
OMIM
182279
Clinvar variants
Variants in SNRPN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: snrpn has been classified as Green List (High Evidence).

21 Jan 2022, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SNRPN were set to 30794780; http://igc.otago.ac.nz/home.html

20 Jan 2022, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SNRPN were changed from to Prader-Willi syndrome, OMIM:176270

22 Dec 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

gene: SNRPN was added gene: SNRPN was added to Imprinted Genes. Sources: Literature Mode of inheritance for gene: SNRPN was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: SNRPN were set to 30794780; http://igc.otago.ac.nz/home.html