Paediatric motor neuronopathies
Gene: SNRPNEnsemblGeneIds (GRCh38): ENSG00000128739
EnsemblGeneIds (GRCh37): ENSG00000128739
OMIM: 182279, Gene2Phenotype
SNRPN is in 1 panel
4 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of pathogenicity: PMID: 10802660 - deletion of the SNRPN promoter/exon 1 region (the PWS IC element) impairs the establishment of the paternal imprint in the male germ line and leads to PWS. This publication reports a PWS family in which the father is mosaic for an IC deletion on his paternal chromosome. The deletion chromosome acquired a maternal methylation imprint in his somatic cells. They use a mouse model to demonstrate that the PWS IC element is not only required for the establishment of the paternal imprint, but also for its postzygotic maintenance.Created: 30 Mar 2017, 6:09 p.m.
Comment on list classification: Demoted to red due to the comment from Arianna made March 7th 2017.Created: 30 Mar 2017, 6:06 p.m.
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as red as currently ngs unreportableCreated: 7 Mar 2017, 1:41 p.m.
Pinki Munot (Consultant )
this test is important for the differential diagnosis for a hypotonic infant with feeding difficulty and hence may be included
Created: 2 Mar 2017, 7:35 p.m.
Alice Gardham (Genomics England)
Incorrect phenotypeCreated: 26 Jan 2017, 11:50 a.m.
Details
- Mode of Inheritance
- Other - please specifiy in evaluation comments
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Prader-Willi syndrome, OMIM:176270
- Tags
- OMIM
- 182279
- Clinvar variants
- Variants in SNRPN
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: SNRPN were set to 10802660; 8723064
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SNRPN were changed from Prader-Willi syndrome 176270 to Prader-Willi syndrome, OMIM:176270
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SNRPN were set to Prader-Willi syndrome 176270
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for SNRPN was changed to Other - please provide details in the comments
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SNRPN was changed to Other - please specifiy in evaluation comments
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for SNRPN was changed to Other - please provide details in the comments
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SNRPN were set to 10802660;8723064
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Antonio Rueda (GEL)SNRPN was added to Paediatric motor neuronopathiespanel. Sources: Emory Genetics Laboratory