Combined Immunodeficiency

Gene: ICOS

Green List (high evidence)

ICOS (inducible T-cell costimulator)
EnsemblGeneIds (GRCh38): ENSG00000163600
EnsemblGeneIds (GRCh37): ENSG00000163600
OMIM: 604558, Gene2Phenotype
ICOS is in 9 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

15 affected individuals from 8 unrelated families reported with ICOS variants and displayed immunodeficiency, common variable, 1 phenotype; three mouse models.

Homozygous and compound heterozygous deletion and missense variants, with the most frequent variant being a 442 nucleotide deletion.

Patients typically presented with recurrent bacterial respiratory & gastrointestinal infections and low IgG/IgA. However, phenotypic expression is highly variable, with some individuals only displaying immunological phenotypes.
Created: 27 Jul 2021, 5:46 a.m. | Last Modified: 27 Jul 2021, 5:46 a.m.
Panel Version: 0.232

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency, common variable, 1 MIM# 607594; recurrent bacterial respiratory/gastrointestinal infections; autoimmunity; gastroenteritis; low IgG/IgA; normal-low IgM; hypogammaglobulinaemia; low-normal B-cells; normal T-cells; Bronchitis; Lymphadenopathy; Hepatomegaly; Diarrhoea

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 1 MIM# 607594
  • recurrent bacterial respiratory/gastrointestinal infections
  • autoimmunity
  • gastroenteritis
  • low IgG/IgA
  • normal-low IgM
  • hypogammaglobulinaemia
  • low-normal B-cells
  • normal T-cells
  • Bronchitis
  • Lymphadenopathy
  • Hepatomegaly
  • Diarrhoea
Tags
SV/CNV
OMIM
604558
Clinvar variants
Variants in ICOS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ICOS were changed from to Immunodeficiency, common variable, 1 MIM# 607594; recurrent bacterial respiratory/gastrointestinal infections; autoimmunity; gastroenteritis; low IgG/IgA; normal-low IgM; hypogammaglobulinaemia; low-normal B-cells; normal T-cells; Bronchitis; Lymphadenopathy; Hepatomegaly; Diarrhoea

27 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ICOS were set to

27 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ICOS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

27 Jul 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: ICOS.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ICOS was added gene: ICOS was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: ICOS was set to Unknown