Genes in panel
STRs in panel
Prev Next

COVID-19 research

Gene: MSN

Green List (high evidence)

MSN (moesin)
EnsemblGeneIds (GRCh38): ENSG00000147065
EnsemblGeneIds (GRCh37): ENSG00000147065
OMIM: 309845, Gene2Phenotype
MSN is in 5 panels

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
combined immunodeficiency

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 Immunodeficiency
Created: 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 association
Created: 12 Jun 2018, 5:01 p.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Created: 12 Jun 2018, 5 p.m.
Comment on mode of inheritance: Added MOI from external expert review
Created: 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 immunodeficiency
Created: 17 Apr 2018, 12:29 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
Phenotypes
  • Combined immunodeficiency
  • Immunodeficiency 50, MIM300988
  • Immunodeficiency 50, 300988
  • Immunodeficiencies affecting cellular and humoral immunity
  • Recurrent infections with bacteria, varicella, neutropenia
OMIM
309845
Clinvar variants
Variants in MSN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

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

31 Mar 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

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