Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: BTK
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.
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.
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
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
Phenotypes for gene BTK were set to Agammaglobulinemia and isolated hormone deficiency 307200; Agammaglobulinemia, X-linked 1 300755
BTK was created by ellenmcdonagh
BTK was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list