Infantile enterocolitis & monogenic inflammatory bowel diseaseGene: DCLRE1C
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. Eight variants reported in SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION, one in SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN-TYPE, two in SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL and two in OMENN SYNDROME
Created: 5 Sep 2016, 6:49 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.
DCLRE1C 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 DCLRE1C were set to Omenn syndrome 603554; Severe combined immunodeficiency, Athabascan type 602450
DCLRE1C was created by ellenmcdonagh
DCLRE1C was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list