Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: MS4A1
Single patient reportedCreated: 29 Jun 2018, 2:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
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 GRIDCreated: 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 PhenotypeCreated: 2 Jul 2018, 10:35 a.m.
CD20Created: 27 Jun 2018, 7:31 p.m.
Comment on phenotypes: added in ESID categoryCreated: 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: ENST00000534668Created: 17 Apr 2018, 12:12 p.m.
Source IUIS Classification December 2019 was added to MS4A1. Added phenotypes Recurrent infections; Predominantly Antibody Deficiencies for gene: MS4A1 Publications for gene MS4A1 were updated from 20038800; 27250108 to 32048120; 27250108; 20038800; 32086639
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.
Gene: ms4a1 has been classified as Red List (Low Evidence).
Gene: ms4a1 has been classified as Red List (Low Evidence).
Phenotypes for gene MS4A1 were set to Immunodeficiency, common variable, 5 613495, Common variable immunodeficiency disorders (CVID), Recurrent infections, Predominantly Antibody Deficiencies
IUIS Classification February 2018 was added to MS4A1. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to MS4A1. Panel: Primary immunodeficiency disorders
Phenotypes for MS4A1 were set to Immunodeficiency, common variable, 5 613495; Common variable immunodeficiency disorders (CVID)
Phenotypes for MS4A1 were set to Immunodeficiency, common variable, 5 613495; Common variable immunodeficiency disorders (CVID)
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for MS4A1 were set to 20038800; 27250108
Phenotypes for MS4A1 were set to Immunodeficiency, common variable, 5 613495
Expert Review Amber was added to MS4A1. Panel: Primary immunodeficiency disorders
ESID Registry 20171117 was added to MS4A1. Panel: Primary immunodeficiency disorders Phenotypes for gene MS4A1 were set to Immunodeficiency, common variable, 5, Common variable immunodeficiency disorders (CVID)
Phenotypes for gene MS4A1 were set to Immunodeficiency, common variable, 5
MS4A1 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
MS4A1 was created by Louise Daugherty