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COVID-19 research

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

5 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Sarah Leigh (Genomics England Curator)

Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen, however, two biallelic variants have been reported in unrelated families, together with supportive functional studies (PMID 29230214, 25406581) and a mouse model (PMID 29259025).
Created: 30 Apr 2018, 2:50 p.m.
Comment on mode of inheritance: mode of inheritance from reports of biallelic variants in the quoted publications
Created: 30 Apr 2018, 2:35 p.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): MAP3K14 .PanelApp HGNC gene symbol check: MAP3K14 . IUIS Disease: NIK deficiency . IUIS Inheritance: AR .T cells: Normal or decreased, TCR activation impaired, .B cells: Low, low switched memory B cells, .IUIS Other affected cells: N/A. IUIS Associated features: Low NK number and function, recurrent bacterial, viral and Cryptosporidium infections. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency
Created: 2 Jul 2018, 10:35 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 supplied by GRID. GRID Gene Symbol HGNC PanelApp check: MAP3K14, GRID_Gene_Symbol: MAP3K14, GRID_Transcript_ENS_Community submitted: ENST00000344686, GRID_Transcript_RefSeq: NM_003954.4, GRID_Transcript_ENS_used_on_Production: ENST00000344686
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Low NK number and function, recurrent bacterial, viral and Cryptosporidium infections
  • Recessive Atypical Combined Immunodeficiency
  • Primary Immunodeficiency with Multifaceted Aberrant Lymphoid Immunity
  • Immunodeficiencies affecting cellular and humoral immunity
OMIM
604655
Clinvar variants
Variants in MAP3K14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MAP3K14 was added gene: MAP3K14 was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: MAP3K14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAP3K14 were set to 29230214; 25406581; 29259025 Phenotypes for gene: MAP3K14 were set to Low NK number and function, recurrent bacterial, viral and Cryptosporidium infections; Recessive Atypical Combined Immunodeficiency; Primary Immunodeficiency with Multifaceted Aberrant Lymphoid Immunity; Immunodeficiencies affecting cellular and humoral immunity