Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: BTK

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

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): 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, Agammaglobulinemia

Created: 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 1.29

Created: 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 / Agammaglobulinemia

Created: 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: ENST00000308731

Created: 17 Apr 2018, 12:12 p.m.

Green List (high evidence)

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

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Green List (high evidence)

Comment when marking as ready: Strong evidence from expert review and literature

Created: 10 May 2016, 9:20 a.m.

Green List (high evidence)

Green List (high evidence)

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

• http://www.ncbi.nlm.nih.gov/books/NBK1453/