Infantile enterocolitis & monogenic inflammatory bowel diseaseGene: SKIV2L
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Publications for SKIV2L were set to 27302973; 22444670; 27537055 - a pathogenic variant (heterozygous state) in this gene was reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease.
SKIV2L was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for gene SKIV2L were set to Trichohepatoenteric syndrome 2 614602
SKIV2L was created by ellenmcdonagh
SKIV2L was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list