Gastrointestinal epithelial barrier disorders
Gene: SKIV2LComment when marking as ready: This gene is being marked as ready, having been reviewed internally by the clinical team, by the curation team and by the expert reviewer. 25/07/2018Created: 25 Jul 2018, 4:21 p.m.
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: 1.73
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.
Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
Gene: skiv2l has been classified as Green List (High Evidence).
UKGTN was added to SKIV2L. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene SKIV2L were set to Trichohepatoenteric syndrome 2, 614602, Trichohepatoenteric Syndrome, Inflammatory Bowel Disease (Very Early Onset)
Expert list was added to SKIV2L. Panel: Gastrointestinal epithelial barrier disorders
Illumina TruGenome Clinical Sequencing Services was added to SKIV2L. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene SKIV2L were set to Trichohepatoenteric syndrome 2, 614602, Trichohepatoenteric Syndrome
SKIV2L was added to Gastrointestinal epithelial barrier disorders panel. Sources: Radboud University Medical Center, Nijmegen
SKIV2L was created by Olivia Niblock