COVID-19 research
Gene: MAP3K14
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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 publicationsCreated: 30 Apr 2018, 2:35 p.m.
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 ImmunodeficiencyCreated: 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: ENST00000344686Created: 17 Apr 2018, 12:12 p.m.
Phenotypes for gene: MAP3K14 were changed from 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 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; Immunodeficiency 112, OMIM:620449
Tag gene-checked was removed from gene: MAP3K14.
Tag gene-checked tag was added to gene: MAP3K14.
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