COVID-19 research
Gene: BLNK
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
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): BLNK .PanelApp HGNC gene symbol check: BLNK . IUIS Disease: BLNK deficiency . IUIS Inheritance: AR .T cells: Normal numbers, low mitogens, .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.
Original metadata downloaded from ESID Registry. ESID_Gene_original: BLNK/SLP65, PanelApp HGNC gene symbol check: BLNK, 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: BLNK, GRID_Gene_Symbol: BLNK, GRID_Transcript_ENS_Community submitted: ENST00000224337, GRID_Transcript_RefSeq: NM_013314.3, GRID_Transcript_ENS_used_on_Production: ENST00000224337Created: 17 Apr 2018, 12:12 p.m.
Comment when marking as ready: three expert reviewsCreated: 10 May 2016, 9:44 a.m.
gene: BLNK was added gene: BLNK was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: BLNK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLNK were set to 19302039; 24582315; 25893637; 10583958 Phenotypes for gene: BLNK were set to Agammaglobulinemia; Agammaglobulinemia 4, 613502; Severe bacterial infections, normal numbers of pro-B cells; Agammaglobulinemia 4; Predominantly Antibody Deficiencies; agammaglobulinaemia with absent B cells