Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: SKIV2L

Green List (high evidence)

SKIV2L (Ski2 like RNA helicase)
EnsemblGeneIds (GRCh38): ENSG00000204351
EnsemblGeneIds (GRCh37): ENSG00000204351
OMIM: 600478, Gene2Phenotype
SKIV2L is in 12 panels

2 reviews

Neil shah (GOSH)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Trichohepatoenteric syndrome 2 614602
OMIM
600478
Clinvar variants
Variants in SKIV2L
Penetrance
Complete
Publications
  • 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.
Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 3

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

12 Oct 2016, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

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.

2 Sep 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

SKIV2L was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

2 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene SKIV2L were set to Trichohepatoenteric syndrome 2 614602

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SKIV2L was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SKIV2L was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list