Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: ICOSLGComment 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
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
Variants in this gene might be predicted to cause immunodeficiency but monogenic deficiency has not so far been described in humans, to my knowledgeCreated: 29 Jun 2018, 2:13 p.m.
Added publication referenced by IUIS december 2019 updateCreated: 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
Gene: icoslg has been classified as Red List (Low Evidence).
Gene: icoslg has been classified as Amber List (Moderate Evidence).
Publications for gene: ICOSLG were set to 32086639; 32048120; 30498080; 31532372
Publications for gene: ICOSLG were set to 32086639; 32048120; 30498080
Publications for gene ICOSLG were updated from 32048120; 32086639 to 32086639; 32048120; 30498080
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
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.
Gene: icoslg has been classified as Red List (Low Evidence).
Gene: icoslg has been classified as Amber List (Moderate Evidence).
ICOSLG was added to Primary immunodeficiency disorders panel. Sources: Victorian Clinical Genetics Services
ICOSLG was created by Louise Daugherty