COVID-19 research
Gene: BTK
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
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): BTK .PanelApp HGNC gene symbol check: BTK . IUIS Disease: BTK deficiency, X-linked agammaglobulinemia (XLA) . IUIS Inheritance: XL .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Severe bacterial infections, normal numbers of pro-B cells. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, AgammaglobulinemiaCreated: 2 Jul 2018, 10:35 a.m.
Review from Adrian Shields (Oxford University NHS Foundation Trust and University of Oxford)
[email protected]
Green List (high evidence)
FACS for BTK protein expression in lymphocytes
29 Jun 2018, 3:27 p.m.
Variants in this are reported as part of current diagnostic practice
29 Jun 2018, 3:27 p.m.
Panel version: Imported from A- or hypo-gammaglobulinaemia panel version 1.29Created: 29 Jun 2018, 2:33 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: Btk. (x-linked), PanelApp HGNC gene symbol check: BTK, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Predominantly antibody disorders / Agammaglobulinemias / AgammaglobulinemiaCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: BTK, GRID_Gene_Symbol: BTK, GRID_Transcript_ENS_Community submitted: ENST00000308731, GRID_Transcript_RefSeq: NM_000061.2, GRID_Transcript_ENS_used_on_Production: ENST00000308731Created: 17 Apr 2018, 12:12 p.m.
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
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Comment when marking as ready: Strong evidence from expert review and literatureCreated: 10 May 2016, 9:20 a.m.
Widely recognised as commonest single cause of agammaglobulinaemia in males. Flow cytometric protein expression assay for disease and carrier status as well as UKGTN testing available.Created: 19 Oct 2015, 9:53 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
agammaglobulinaemia; CVID
Publications
gene: BTK was added gene: BTK was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: BTK were set to 20301626 Phenotypes for gene: BTK were set to Agammaglobulinemia, X-linked 1, 300755; Agammaglobulinemia, X-linked; Agammaglobulinemia, X-linked 1 (XLA); Agammaglobulinemia; Severe bacterial infections, normal numbers of pro-B cells; agammaglobulinaemia; Agammaglobulinemia and isolated hormone deficiency, 307200; Agammaglobulinemia and isolated hormone deficiency; Predominantly Antibody Deficiencies; CVID