Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: SKIV2L

Added new-gene-name tag, new approved HGNC gene symbol for SKIV2L is SKIC2.

Created: 30 Jun 2022, 3:41 p.m. | Last Modified: 30 Jun 2022, 4:05 p.m.

Panel Version: 2.557

Green List (high evidence)

agree with green gene

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Green List (high evidence)

YES- this is covered on our targeted exome

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: SKIV2L causes inflammatory bowel disease.

Created: 24 Jan 2019, 4:31 p.m.

Green List (high evidence)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

added early-onset tag

Created: 30 Apr 2018, 11:39 a.m.

Comment on list classification: Changed from Amber to Green due to new publications to support immune dysfunction and expert list (GOSH)

Created: 20 Apr 2018, 4:44 p.m.

Comment on publications: added publications to support PID phenotype. From OMIM: PMID: 22444670 (2012) describes 6 unrelated patients with typical trichohepatoenteric syndrome who were known to be negative for mutation in the TTC37 gene sequenced the candidate gene SKIV2L and identified homozygosity or compound heterozygosity for 8 different mutations, respectively, in all patients. PMID: 29145277 (2017) The patient is the second child of three siblings born to non-consanguineous healthy Japanese parents. She had intrauterine growth retardation and was delivered at 33 weeks of gestation due to placental abruption and presented with watery diarrhea, elevated levels of liver enzymes, multiple episodes of recurrent bacterial infection, and mild mental retardation. They found Novel compound heterozygous nonsense mutations, c.1420G>T (p.Q474*) and c.3262G>T (p.E1088*), in the SKIV2L gene were identified in the patient, and decreased levels of SKIV2L protein expression were revealed by flow cytometry and confirmed by western blot analysis using patient peripheral blood mononuclear cells (PBMCs).

Created: 20 Apr 2018, 4:28 p.m.

This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s)
GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.

Created: 19 Apr 2018, 3:12 p.m.

Original metadata downloaded from ESID Registry. ESID_Gene_original: SKIV2L, PanelApp HGNC gene symbol check: SKIV2L, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Other well defined PIDs / Trichohepatoenteric syndrome (Giraud syndrome) / Trichohepatoenteric syndrome

Created: 17 Apr 2018, 12:29 p.m.