Primary immunodeficiency or monogenic inflammatory bowel disease
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
Source NHS GMS was added to BTK.
Source North West GLH was added to BTK.
Source London North GLH was added to BTK.
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 BTK were set to Agammaglobulinemia and isolated hormone deficiency, Agammaglobulinemia, X-linked, Agammaglobulinemia, X-linked 1, 300755, Agammaglobulinemia and isolated hormone deficiency, 307200, Agammaglobulinemia, X-linked 1 (XLA), Agammaglobulinemia, agammaglobulinaemia, CVID, Severe bacterial infections, normal numbers of pro-B cells, Predominantly Antibody Deficiencies
IUIS Classification February 2018 was added to BTK. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to BTK. Panel: Primary immunodeficiency disorders
Gene: btk has been classified as Green List (High Evidence).
Phenotypes for gene: BTK were set to Agammaglobulinemia and isolated hormone deficiency; Agammaglobulinemia, X-linked; Agammaglobulinemia, X-linked 1, 300755; Agammaglobulinemia and isolated hormone deficiency, 307200; Agammaglobulinemia, X-linked 1 (XLA); Agammaglobulinemia; agammaglobulinaemia; CVID
Publications for BTK were set to 20301626
ESID Registry 20171117 was added to BTK. Panel: Primary immunodeficiency disorders Phenotypes for gene BTK were set to Agammaglobulinemia and isolated hormone deficiency, Agammaglobulinemia, X-linked, Agammaglobulinemia, X-linked 1, 300755, Agammaglobulinemia and isolated hormone deficiency, 307200, Agammaglobulinemia, X-linked 1 (XLA), Agammaglobulinemia
Phenotypes for gene BTK were set to Agammaglobulinemia and isolated hormone deficiency, Agammaglobulinemia, X-linked, Agammaglobulinemia, X-linked 1, 300755, Agammaglobulinemia and isolated hormone deficiency, 307200, Agammaglobulinemia, X-linked 1 (XLA)
GRID V2.0 was added to BTK. Panel: Primary immunodeficiency disorders Phenotypes for gene BTK were set to Agammaglobulinemia and isolated hormone deficiency, Agammaglobulinemia, X-linked, Agammaglobulinemia, X-linked 1, 300755, Agammaglobulinemia and isolated hormone deficiency, 307200, Agammaglobulinemia, X-linked 1 (XLA)
Phenotypes for BTK were set to Agammaglobulinemia and isolated hormone deficiency; Agammaglobulinemia, X-linked; Agammaglobulinemia, X-linked 1, 300755; Agammaglobulinemia and isolated hormone deficiency, 307200
BTK Source: GOSH PID 20171132 was removed from gene: BTK
GOSH PID v.8.0 was added to BTK. Panel: Primary immunodeficiency disorders
GOSH PID 20171132 was added to BTK. Panel: Primary immunodeficiency disorders Model of inheritance for gene BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
BTK was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, A- or hypo-gammaglobulinaemia v1.25
BTK was created by Louise Daugherty