Gastrointestinal epithelial barrier disorders
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.
Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
Model of inheritance for gene BTK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene BTK were set to Early Onset Inflammatory Bowel Disease, Agammaglobulinemia and isolated hormone deficiency 307200, Agammaglobulinemia, X-linked 1 300755
BTK was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
BTK was created by Olivia Niblock