Paediatric motor neuronopathies
Gene: SNRPNComment 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.
Comment when marking as ready: Marked as red as currently ngs unreportableCreated: 7 Mar 2017, 1:41 p.m.
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.
Incorrect phenotypeCreated: 26 Jan 2017, 11:50 a.m.
Publications for gene: SNRPN were set to 10802660; 8723064
Phenotypes for gene: SNRPN were changed from Prader-Willi syndrome 176270 to Prader-Willi syndrome, OMIM:176270
Phenotypes for SNRPN were set to Prader-Willi syndrome 176270
Mode of pathogenicity for SNRPN was changed to Other - please provide details in the comments
Mode of inheritance for SNRPN was changed to Other - please specifiy in evaluation comments
This gene has been classified as Red List (Low Evidence).
Mode of pathogenicity for SNRPN was changed to Other - please provide details in the comments
Publications for SNRPN were set to 10802660;8723064
Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
SNRPN was added to Paediatric motor neuronopathiespanel. Sources: Emory Genetics Laboratory