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Newborns main panel

Gene: MS4A1

Amber List (moderate evidence)
MS4A1 (membrane spanning 4-domains A1)
EnsemblGeneIds (GRCh38): ENSG00000156738
EnsemblGeneIds (GRCh37): ENSG00000156738
OMIM: 112210, Gene2Phenotype
MS4A1 is in 2 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
One missense variant (Ser551Asn) has been reported in one proband in one publication (PMID: 27016798), segregating in two additional affected family members. An additional patient with the IRF2BP2 c.1180A>C; p.Thr394Pro variant has been reported in an individual affected with CIVD in an abstract for the American college of allergy, asthma & immunology 2018 annual scientific meeting (Joseph 2018; https://doi.org/10.1016/j.anai.2018.09.308)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Common variable immune deficiency 5
OMIM
112210
Clinvar variants
Variants in MS4A1
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Common variable immune deficiency 5 for gene: MS4A1

5 Jul 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to MS4A1. Added phenotypes Common variable immune deficiency 5 for gene: MS4A1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to MS4A1. Added phenotypes Common variable immune deficiency 5 for gene: MS4A1 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

15 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to MS4A1. Added phenotypes Common variable immune deficiency 5 for gene: MS4A1 Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: MS4A1 was added gene: MS4A1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: MS4A1 was set to BIALLELIC, autosomal or pseudoautosomal