1. Panels
  2. Common Variable Immunodeficiency
  3. MAP3K14
STRs in panel
Prev Next
Regions in panel
Prev Next

Common Variable Immunodeficiency

Gene: MAP3K14

Green List (high evidence)
MAP3K14 (mitogen-activated protein kinase kinase kinase 14)
EnsemblGeneIds (GRCh38): ENSG00000006062
EnsemblGeneIds (GRCh37): ENSG00000006062
OMIM: 604655, Gene2Phenotype
MAP3K14 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

3 cases from 2 families (1 consanguineous) with homozygous variants. The cases didn't have a clinical diagnosis of CVID, but all had hypogammaglobulinemia and there was no mention of response to immunisation. Also, a supporting null mouse model.
Created: 23 Jul 2020, 1:11 a.m. | Last Modified: 23 Jul 2020, 1:11 a.m.
Panel Version: 0.76

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hypogammaglobulinemia

Publications

Created: 23 Jul 2020, 1:11 a.m.
Last Modified: 23 Jul 2020, 1:11 a.m.
Panel version: 0.76

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 112, MIM# 620449
OMIM
604655
Clinvar variants
Variants in MAP3K14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jul 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAP3K14 were changed from hypogammaglobulinemia; recurrent infections to Immunodeficiency 112, MIM# 620449

23 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: map3k14 has been classified as Green List (High Evidence).

23 Jul 2020, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: MAP3K14 were changed from to hypogammaglobulinemia; recurrent infections

23 Jul 2020, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: MAP3K14 were set to

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAP3K14 was added gene: MAP3K14 was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: MAP3K14 was set to Unknown