COVID-19 research
Gene: MSN
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.
Added phenotypes Immunodeficiencies affecting cellular and humoral immunity; Recurrent infections with bacteria, varicella, neutropenia; Immunodeficiency 50, 300988; Combined immunodeficiency for gene: MSN Publications for gene MSN were updated from to 29556235; 27405666
gene: MSN was added gene: MSN was added to Viral susceptibility. Sources: Expert list,Expert Review Green Mode of inheritance for gene: MSN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MSN were set to Immunodeficiency 50, MIM300988