Infantile enterocolitis & monogenic inflammatory bowel diseaseGene: SH2D1A
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.
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
SH2D1A was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for gene SH2D1A were set to Lymphoproliferative syndrome, X-linked, 1 308240
SH2D1A was created by ellenmcdonagh
SH2D1A was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list