Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: BTK

Green List (high evidence)

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

3 reviews

Neil shah (GOSH)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Rated green by Neil Shah (GOSH), and green on the A- or hypo-gammaglobulinaemia Version 1.4 gene panel.
Created: 10 Oct 2016, 1:18 p.m.

Sarah Leigh (Genomics England Curator)

Associated with phenotypes in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. Numerous variants reported
Created: 5 Sep 2016, 6:47 a.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Agammaglobulinemia and isolated hormone deficiency 307200
  • Agammaglobulinemia, X-linked 1 300755
OMIM
300300
Clinvar variants
Variants in BTK
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

10 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Sep 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

BTK was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

2 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene BTK were set to Agammaglobulinemia and isolated hormone deficiency 307200; Agammaglobulinemia, X-linked 1 300755

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

BTK was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

BTK was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list