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  3. MS4A1
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Predominantly Antibody Deficiency

Gene: MS4A1

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single homozygous case from a consanguineous family with a complex mutation and at least 2 supporting null mouse models. Also, the gene is on the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Created: 21 Jul 2020, 2:06 a.m. | Last Modified: 21 Jul 2020, 2:06 a.m.
Panel Version: 0.41

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency, common variable, 5 MIM#613495

Publications

Created: 21 Jul 2020, 2:06 a.m.
Last Modified: 21 Jul 2020, 2:06 a.m.
Panel version: Imported from Common Variable Immunodeficiency panel version 0.41

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Otherwise known as CD20. Single individual reported with a complex homozygous intronic variant. Mouse model.
Created: 11 Apr 2020, 4:07 a.m. | Last Modified: 11 Apr 2020, 4:07 a.m.
Panel Version: 0.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency, common variable, 5, MIM# 613495

Publications

Created: 11 Apr 2020, 4:07 a.m.
Last Modified: 11 Apr 2020, 4:07 a.m.
Panel version: 0.39

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 5, MIM# 613495
OMIM
112210
Clinvar variants
Variants in MS4A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ms4a1 has been classified as Amber List (Moderate Evidence).

11 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ms4a1 has been classified as Red List (Low Evidence).

11 Apr 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MS4A1 were changed from to Immunodeficiency, common variable, 5, MIM# 613495

11 Apr 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MS4A1 were set to

11 Apr 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MS4A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

11 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ms4a1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MS4A1 was added gene: MS4A1 was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: MS4A1 was set to Unknown