Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: CD3G
Comment on list classification: Rated green by Neil Shah (GOSH), and variants within this gene have been reported in multiple families.Created: 10 Oct 2016, 2:18 p.m.
Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel. Four variants reported in two homozygotes and one compound heterozygote.
Created: 5 Sep 2016, 12:28 p.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).
Publications for CD3G were set to 17277165; 1635567; 24910257
CD3G was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for gene CD3G were set to Immunodeficiency 17, CD3 gamma deficient 615607
CD3G was created by ellenmcdonagh
CD3G was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list