Genes in panel
STRs in panel
Prev Next

COVID-19 research

Gene: BLNK

Green List (high evidence)

BLNK (B-cell linker)
EnsemblGeneIds (GRCh38): ENSG00000095585
EnsemblGeneIds (GRCh37): ENSG00000095585
OMIM: 604515, Gene2Phenotype
BLNK is in 4 panels

7 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

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): 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, Agammaglobulinemia
Created: 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 / Agammaglobulinemia
Created: 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: ENST00000224337
Created: 17 Apr 2018, 12:12 p.m.

Christopher Duncan (Newcastle University)

Green List (high evidence)

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
agammaglobulinaemia with absent B cells

Publications

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: three expert reviews
Created: 10 May 2016, 9:44 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Agammaglobulinemia
  • Agammaglobulinemia 4, 613502
  • Severe bacterial infections, normal numbers of pro-B cells
  • Agammaglobulinemia 4
  • Predominantly Antibody Deficiencies
  • agammaglobulinaemia with absent B cells
OMIM
604515
Clinvar variants
Variants in BLNK
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: 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