Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: SKIV2L
Added new-gene-name tag, new approved HGNC gene symbol for SKIV2L is SKIC2.Created: 30 Jun 2022, 3:39 p.m. | Last Modified: 30 Jun 2022, 4:04 p.m.
Panel Version: 1.39
Associated with phenotype in OMIM and G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel. Six variants reported (two as homozygotes and four as compound heterozygotes in two separate cases)Created: 5 Sep 2016, 6:59 a.m.
Publications
Tag new-gene-name tag was added to gene: 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