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Primary immunodeficiency

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

5 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

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

Tracy Briggs (Manchester Genomic Medicine Centre)

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

Ivone Leong (Genomics England Curator)

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.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • ESID Registry 20171117
  • GOSH PID v.8.0
Phenotypes
  • Trichohepatoenteric syndrome 2,614602
  • Trichohepatoenteric syndrome
  • Immune dysfunction
Tags
early-onset
OMIM
600478
Clinvar variants
Variants in SKIV2L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SKIV2L.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to SKIV2L.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to SKIV2L.

12 Jul 2018, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

13 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: skiv2l has been classified as Green List (High Evidence).

20 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Apr 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SKIV2L were set to Trichohepatoenteric syndrome 2,614602; Trichohepatoenteric syndrome; Immune dysfunction

20 Apr 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SKIV2L were set to 29484573; 29145277; 28944135

20 Apr 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SKIV2L were set to 29484573; 29145277; 28944135

19 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to SKIV2L. Panel: Primary immunodeficiency disorders Phenotypes for gene SKIV2L were set to Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome

6 Apr 2018, Gel status: 1

Clear Sources

Louise Daugherty (Genomics England Curator)

SKIV2L Source: GOSH PID 20171192 was removed from gene: SKIV2L

6 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID v.8.0 was added to SKIV2L. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

SKIV2L was added to Primary immunodeficiency disorders panel. Sources: GOSH PID 20171192

29 Mar 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

SKIV2L was created by Louise Daugherty