Gastrointestinal epithelial barrier disorders
Gene: SH2D1AComment on list classification: Expert review and previous curation indicate that variants in this gene are linked to gastrointestinal epithelial barrier phenotypes. Therefore, this gene will be promoted to green.Created: 26 Jul 2018, 11:22 a.m.
Associated with phenotype 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. At least 14 variants reported.Created: 5 Sep 2016, 9:02 a.m.
Gene: sh2d1a has been classified as Green List (High Evidence).
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 SH2D1A 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 SH2D1A were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset), Lymphoproliferative syndrome, X-linked, 1 308240
UKGTN was added to SH2D1A. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene SH2D1A were set to Early Onset Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset)
SH2D1A was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
SH2D1A was created by Olivia Niblock