Genes in panel
STRs in panel
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COVID-19 research

Gene: MS4A1

Green List (high evidence)

MS4A1 (membrane spanning 4-domains A1)
EnsemblGeneIds (GRCh38): ENSG00000156738
EnsemblGeneIds (GRCh37): ENSG00000156738
OMIM: 112210, Gene2Phenotype
MS4A1 is in 3 panels

3 reviews

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Single patient reported
Created: 29 Jun 2018, 2:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with phenotype in OMIM and not in Gen2Phen. A single complex variant identified in one case.
Created: 1 May 2018, 1:40 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Changed from Amber to Red based on external clinical expert review and review of the literature. Only a single case has been reported. Gene is pertinent on Victorian Clinical Genetics Services and GRID panel for Immunological disorders. However gene not present on any other PID related panels or within ESID or IUIS classifications. Request evidences / immunological association of this gene from Victorian Clinical Genetics Services and GRID
Created: 4 Jul 2018, 1:23 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): MS4A1 .PanelApp HGNC gene symbol check: MS4A1 . IUIS Disease: CD20 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent infections. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype
Created: 2 Jul 2018, 10:35 a.m.
Created: 27 Jun 2018, 7:31 p.m.
Comment on phenotypes: added in ESID category
Created: 2 May 2018, 10:30 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: CD20, PanelApp HGNC gene symbol check: MS4A1, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Predominantly antibody disorders / Hypogammaglobulinemias / Common variable immunodeficiency disorders (CVID)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: MS4A1, GRID_Gene_Symbol: MS4A1, GRID_Transcript_ENS_Community submitted: ENST00000534668, GRID_Transcript_RefSeq: NM_152866.2, GRID_Transcript_ENS_used_on_Production: ENST00000534668
Created: 17 Apr 2018, 12:12 p.m.


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • Recurrent infections
  • Common variable immunodeficiency disorders (CVID)
  • Predominantly Antibody Deficiencies
  • Immunodeficiency, common variable, 5 613495
Clinvar variants
Variants in MS4A1
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to MS4A1. Added phenotypes Predominantly Antibody Deficiencies; Recurrent infections; Common variable immunodeficiency disorders (CVID); Immunodeficiency, common variable, 5 613495 for gene: MS4A1 Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: MS4A1 was added gene: MS4A1 was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: MS4A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MS4A1 were set to 27250108; 32086639; 32048120; 20038800 Phenotypes for gene: MS4A1 were set to Predominantly Antibody Deficiencies; Recurrent infections; Common variable immunodeficiency disorders (CVID); Immunodeficiency, common variable, 5 613495