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Combined 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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Extensive functional characterisation in mouse models, see also PMIDs 10319865; 11238593; 12352969, hence Green rating with two families reported only.
Created: 5 Aug 2021, 8:24 a.m. | Last Modified: 5 Aug 2021, 8:24 a.m.
Panel Version: 0.275
Created: 5 Aug 2021, 8:24 a.m.
Last Modified: 5 Aug 2021, 8:24 a.m.
Panel version: 0.275

Danielle Ariti (University of Melbourne)

I don't know

3 individuals from 2 unrelated families reported with CID features and biallelic mutations in MAP3K14 gene; homozygous variants c.G1033A, p.VAL345MET and c. C1694G, p. Pro565Arg

Multiple mice models; Map3k14 knockout mice show reduced mature B-cell numbers and decreased Ig serum levels, resulting in defects in both antibody and cellular immune responses.

All individuals reported CID features such as recurrent bacterial/viral/cryptosporidium infections, decreased immunoglobulin levels, reduced numbers B/NK cells and normal T-cell numbers.
Created: 5 Aug 2021, 1:02 a.m. | Last Modified: 5 Aug 2021, 1:02 a.m.
Panel Version: 0.268

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
NIK deficiency; Poor T cell proliferation to antigen; Low B-cell numbers; Low NK number and function; recurrent bacterial/viral/ cryptosporidium infections; hypogammaglobulinaemia; decreased immunoglobulin levels

Publications

Created: 5 Aug 2021, 1:02 a.m.
Last Modified: 5 Aug 2021, 1:02 a.m.
Panel version: 0.268

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 112, MIM# 620449
  • NIK deficiency
  • Poor T cell proliferation to antigen
  • Low B-cell numbers
  • Low NK number and function
  • recurrent bacterial/viral/ cryptosporidium infections
  • hypogammaglobulinaemia
  • decreased immunoglobulin levels
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 NIK deficiency; Poor T cell proliferation to antigen; Low B-cell numbers; Low NK number and function; recurrent bacterial/viral/ cryptosporidium infections; hypogammaglobulinaemia; decreased immunoglobulin levels to Immunodeficiency 112, MIM# 620449; NIK deficiency; Poor T cell proliferation to antigen; Low B-cell numbers; Low NK number and function; recurrent bacterial/viral/ cryptosporidium infections; hypogammaglobulinaemia; decreased immunoglobulin levels

5 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MAP3K14 were set to 25406581; 29230214; 11251123

5 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAP3K14 were changed from to NIK deficiency; Poor T cell proliferation to antigen; Low B-cell numbers; Low NK number and function; recurrent bacterial/viral/ cryptosporidium infections; hypogammaglobulinaemia; decreased immunoglobulin levels

5 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MAP3K14 were set to

5 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MAP3K14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

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 Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_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