Gastrointestinal epithelial barrier disorders
Gene: SKIV2L

SKIV2L (Ski2 like RNA helicase)
EnsemblGeneIds (GRCh38): ENSG00000204351
EnsemblGeneIds (GRCh37): ENSG00000204351
OMIM: 600478, Gene2Phenotype
SKIV2L is in 11 panels

3 reviews

Olivia Niblock (Genomics England Curator)

Comment 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. 25/07/2018
Created: 25 Jul 2018, 4:21 p.m.

Created: 25 Jul 2018, 4:21 p.m.

Panel version: 0.35

Neil shah (GOSH)

Green List (high evidence)

Created: 12 Oct 2016, 7:31 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.122

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Created: 6 Sep 2016, 11:36 a.m.
Last Modified: 30 Jun 2022, 4:04 p.m.
Panel version: 1.73

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Expert list
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

Phenotypes

Trichohepatoenteric syndrome 2, 614602
Trichohepatoenteric Syndrome
Inflammatory Bowel Disease (Very Early Onset)

Tags

new-gene-name

OMIM

600478

Clinvar variants

Variants in SKIV2L

Penetrance

None

Panels with this gene

History Filter Activity

30 Jun 2022, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag new-gene-name tag was added to gene: SKIV2L.

25 Jul 2018, Gel status: 3