Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: BTKEnsemblGeneIds (GRCh38): ENSG00000010671
EnsemblGeneIds (GRCh37): ENSG00000010671
OMIM: 300300, Gene2Phenotype
BTK is in 11 panels
3 reviews
Neil shah (GOSH)
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 reportedCreated: 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
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Agammaglobulinaemia with absent BTK expression
- IUGR and IGF abnormalities
- Paediatric or syndromic cardiomyopathy
- Pituitary hormone deficiency
- Monogenic short stature
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Osteogenesis imperfecta
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Intellectual disability
History Filter Activity
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
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
Created
Ellen McDonagh (Genomics England Curator)BTK was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)BTK was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list