Primary immunodeficiency or monogenic inflammatory bowel disease
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.
Source NHS GMS was added to BLNK.
Source North West GLH was added to BLNK.
Source London North GLH was added to BLNK.
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Phenotypes for gene BLNK were set to Agammaglobulinemia 4, 613502, agammaglobulinaemia with absent B cells, Agammaglobulinemia 4, Agammaglobulinemia, Severe bacterial infections, normal numbers of pro-B cells, Predominantly Antibody Deficiencies
IUIS Classification February 2018 was added to BLNK. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to BLNK. Panel: Primary immunodeficiency disorders
Gene: blnk has been classified as Green List (High Evidence).
ESID Registry 20171117 was added to BLNK. Panel: Primary immunodeficiency disorders Phenotypes for gene BLNK were set to Agammaglobulinemia 4, 613502, agammaglobulinaemia with absent B cells, Agammaglobulinemia 4, Agammaglobulinemia
Phenotypes for gene BLNK were set to Agammaglobulinemia 4, 613502, agammaglobulinaemia with absent B cells, Agammaglobulinemia 4
GRID V2.0 was added to BLNK. Panel: Primary immunodeficiency disorders Phenotypes for gene BLNK were set to Agammaglobulinemia 4, 613502, agammaglobulinaemia with absent B cells, Agammaglobulinemia 4
BLNK was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, A- or hypo-gammaglobulinaemia v1.25
BLNK was created by Louise Daugherty