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STRs in panel
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COVID-19 research

Gene: STK4

Green List (high evidence)

STK4 (serine/threonine kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000101109
EnsemblGeneIds (GRCh37): ENSG00000101109
OMIM: 604965, Gene2Phenotype
STK4 is in 6 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

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): STK4 .PanelApp HGNC gene symbol check: STK4 . IUIS Disease: MST1 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Low , .IUIS Other affected cells: N/A. IUIS Associated features: Intermittent neutropenia, bacterial, viral (HPV), candidal infections, EBV lymphoproliferation, autoimmune cytopenias, lymphoma, congenital heart disease. 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.
Ellen McDonagh (Genomics England Curator) 6 Jun 2016, 3:20 p.m. review. PMID: 22174160 Nehme NT MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival.Blood. 2012 Apr 12 119(15):3458-68;PMID: 22294732;PMID: 26801501;PMID: 26117625;PMID: 24453252 knockout mice
Created: 18 Apr 2018, 3:44 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: MST1 (STK4), PanelApp HGNC gene symbol check: STK4, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: STK4, GRID_Gene_Symbol: STK4, GRID_Transcript_ENS_Community submitted: ENST00000372806, GRID_Transcript_RefSeq: NM_006282.2, GRID_Transcript_ENS_used_on_Production: ENST00000372806
Created: 17 Apr 2018, 12:12 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene was added by an expert reviewer. There are three cases/families reported in OMIM, and a literature review revealed further cases with multiple variants in patients from different ethnicities (see PMID: 26117625 for a summary table of variants identified in patients).
Created: 6 Jun 2016, 2:20 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Hypergammaglobulinaemia, lymphopenia, combined immunodeficiency, congenital heart disease, autoimmunity
  • Intermittent neutropenia, bacterial, viral (HPV), candidal infections, EBV lymphoproliferation, autoimmune cytopenias, lymphoma, congenital heart disease
  • Combined immunodeficiency
  • T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations
  • Immunodeficiencies affecting cellular and humoral immunity
  • AR hyperimmunoglobulin E syndrome
OMIM
604965
Clinvar variants
Variants in STK4
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: STK4 was added gene: STK4 was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STK4 were set to 26801501; 22294732; 26117625; 24453252; 22174160 Phenotypes for gene: STK4 were set to Hypergammaglobulinaemia, lymphopenia, combined immunodeficiency, congenital heart disease, autoimmunity; Intermittent neutropenia, bacterial, viral (HPV), candidal infections, EBV lymphoproliferation, autoimmune cytopenias, lymphoma, congenital heart disease; Combined immunodeficiency; T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations; Immunodeficiencies affecting cellular and humoral immunity; AR hyperimmunoglobulin E syndrome