Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: MSNComment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.Created: 14 Oct 2020, 1:33 p.m. | Last Modified: 14 Oct 2020, 1:33 p.m.
Panel Version: 2.279
The following PubMed IDs were added to entity MSN: 27405666;29556235. These publications have been associated with OMIM phenotype MIM#300988, which is listed for this entity, by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208
Publications
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): MSN .PanelApp HGNC gene symbol check: MSN . IUIS Disease: Moesin deficiency . IUIS Inheritance: XL .T cells: N/A, .B cells: Low number, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent infections with bacteria, varicella, neutropenia. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: Combined Immunodeficiencies Generally Less Profound than Severe Combined ImmunodeficiencyCreated: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed Red to Green from external review comment and further publications to support gene-disease associationCreated: 12 Jun 2018, 5:01 p.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to GreenCreated: 12 Jun 2018, 5 p.m.
Comment on mode of inheritance: Added MOI from external expert reviewCreated: 12 Jun 2018, 4:59 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: MSN (moesin), PanelApp HGNC gene symbol check: MSN, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiencyCreated: 17 Apr 2018, 12:29 p.m.
Gene: msn has been classified as Green List (High Evidence).
Source Other was added to MSN. Publications for gene MSN were updated from 27405666; 29556235 to 29556235; 27405666 Rating Changed from Green List (high evidence) to Red List (low evidence)
Source NHS GMS was added to MSN.
Source North West GLH was added to MSN.
Source London North GLH was added to MSN.
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Phenotypes for gene MSN were set to Combined immunodeficiency, Immunodeficiency 50, 300988, Recurrent infections with bacteria, varicella, neutropenia, Immunodeficiencies affecting cellular and humoral immunity
IUIS Classification February 2018 was added to MSN. Panel: Primary immunodeficiency disorders
Gene: msn has been classified as Green List (High Evidence).
Gene: msn has been classified as Green List (High Evidence).
Publications for gene: MSN were set to 27405666; 29556235
Mode of inheritance for gene: MSN was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MSN were set to Combined immunodeficiency; Immunodeficiency 50, 300988
MSN was added to Primary immunodeficiency disorders panel. Sources: ESID Registry 20171117
MSN was created by Louise Daugherty