A- or hypo-gammaglobulinaemia

Gene: ICOS

Red List (low evidence)

ICOS (inducible T-cell costimulator)
EnsemblGeneIds (GRCh38): ENSG00000163600
EnsemblGeneIds (GRCh37): ENSG00000163600
OMIM: 604558, Gene2Phenotype
ICOS is in 3 panels

3 reviews

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Reports after the original description show that a CID phenotype is possible (with opportunistic infection, colitis etc)
Created: 6 Jan 2017, 2:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hypogammaglobulinaemia, agammaglobulinaemia, combined immunodeficiency

Publications

William Rae (University Hospital Southampton NHS Foundation Trust)

Green List (high evidence)

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: No expert reviews. No association with disease on Gen2Phen. Two publications reporting a defined deletion of exons 2-3 in 9 members of 4 families, haplotype analysis reveals founder effect
Created: 11 May 2016, 8:30 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Immunodeficiency, common variable, 1 607594
OMIM
604558
Clinvar variants
Variants in ICOS
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 May 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 May 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ICOS were set to Immunodeficiency, common variable, 1 607594

11 May 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 May 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ICOS were set to 12577056; 15507387

29 Apr 2016, Gel status: 0

Added New Source

William Rae (University Hospital Southampton NHS Foundation Trust)

ICOS was added to A- or hypo-gammaglobulinaemiapanel. Sources: Literature

29 Apr 2016, Gel status: 0

Created

William Rae (University Hospital Southampton NHS Foundation Trust)

ICOS was created by wmkr103