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Primary immunodeficiency

Gene: ICOSLG

Red List (low evidence)

ICOSLG (inducible T-cell costimulator ligand)
EnsemblGeneIds (GRCh38): ENSG00000160223
EnsemblGeneIds (GRCh37): ENSG00000160223
OMIM: 605717, Gene2Phenotype
ICOSLG is in 2 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. One homozygous variant reported in one case of Combined Immunodeficiency. Supportive functional evidence was presented. This variant in this French Canadian case has been reported twice in PMID 30498080 & 31532372.
Created: 7 May 2020, 2:20 p.m. | Last Modified: 7 May 2020, 2:20 p.m.
Panel Version: 2.165

Zornitza Stark (Australian Genomics)

I don't know

One, possibly two, reports (one not in English), some functional data.
Created: 10 Apr 2020, 7:51 a.m. | Last Modified: 10 Apr 2020, 7:51 a.m.
Panel Version: 2.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined immunodeficiency; recurrent bacterial and viral infections; neutropaenia

Publications

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Variants in this gene might be predicted to cause immunodeficiency but monogenic deficiency has not so far been described in humans, to my knowledge
Created: 29 Jun 2018, 2:13 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
Comment on list classification: Changed from Amber to Red due to Red review from external expert. To be referred back to Victorian Clinical Genetics Services for evidences for monogenic deficiency. Gene absent on other PID panels and is not known gene on IUIS and ESID classifications.
Created: 4 Jul 2018, 10:24 a.m.
Comment on list classification: 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 from Victorian Clinical Genetics Services. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1. No disorder or MOI was listed in the submitted list.
Created: 26 Jun 2018, 12:46 p.m.

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • IUIS Classification December 2019
  • Victorian Clinical Genetics Services
Phenotypes
  • Recurrent bacterial and viral infections
  • Immunodeficiencies affecting cellular and humoral immunity
OMIM
605717
Clinvar variants
Variants in ICOSLG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 May 2020, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: icoslg has been classified as Red List (Low Evidence).

7 May 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: icoslg has been classified as Amber List (Moderate Evidence).

7 May 2020, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ICOSLG were set to 32086639; 32048120; 30498080; 31532372

7 May 2020, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ICOSLG were set to 32086639; 32048120; 30498080

28 Feb 2020, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ICOSLG were updated from 32048120; 32086639 to 32086639; 32048120; 30498080

28 Feb 2020, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to ICOSLG. Mode of inheritance for gene ICOSLG was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Recurrent bacterial and viral infections; Immunodeficiencies affecting cellular and humoral immunity for gene: ICOSLG Publications for gene ICOSLG were updated from to 32048120; 32086639

12 Jul 2018, Gel status: 1

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.

4 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: icoslg has been classified as Red List (Low Evidence).

26 Jun 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: icoslg has been classified as Amber List (Moderate Evidence).

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

ICOSLG was added to Primary immunodeficiency disorders panel. Sources: Victorian Clinical Genetics Services

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

ICOSLG was created by Louise Daugherty