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Primary immunodeficiency

Gene: BTK

Green List (high evidence)

BTK (Bruton tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000010671
EnsemblGeneIds (GRCh37): ENSG00000010671
OMIM: 300300, Gene2Phenotype
BTK is in 11 panels

8 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

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): 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.

Christopher Duncan (Newcastle University)

Green List (high evidence)

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

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

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Strong evidence from expert review and literature
Created: 10 May 2016, 9:20 a.m.

William Rae (University Hospital Southampton NHS Foundation Trust)

Green List (high evidence)

Sophie Hambleton (Newcastle University)

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/

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • 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
OMIM
300300
Clinvar variants
Variants in BTK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to BTK.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to BTK.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to BTK.

12 Jul 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

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.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

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

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to BTK. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to BTK. Panel: Primary immunodeficiency disorders

13 Jun 2018, Gel status: 4

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: btk has been classified as Green List (High Evidence).

13 Jun 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

20 Apr 2018, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for BTK were set to 20301626

17 Apr 2018, Gel status: 4

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

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

17 Apr 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

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)

17 Apr 2018, Gel status: 4

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

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)

11 Apr 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

6 Apr 2018, Gel status: 4

Clear Sources

Louise Daugherty (Genomics England Curator)

BTK Source: GOSH PID 20171132 was removed from gene: BTK

6 Apr 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID v.8.0 was added to BTK. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 4

Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

29 Mar 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

BTK was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, A- or hypo-gammaglobulinaemia v1.25

29 Mar 2018, Gel status: 4

Created

Louise Daugherty (Genomics England Curator)

BTK was created by Louise Daugherty