Common Variable Immunodeficiency
Gene: IL21

IL21 (interleukin 21)
EnsemblGeneIds (GRCh38): ENSG00000138684
EnsemblGeneIds (GRCh37): ENSG00000138684
OMIM: 605384, Gene2Phenotype
IL21 is in 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single case with a homozygous loss of function variant has been identified with a IBD and CVID-like disorder. Animal models exist in OMIM, but unsure if the null mouse model recapitulates the human phenotype.
Sources: Literature
Created: 23 Jul 2020, 1:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency, common variable, 11 MIM#615767

Publications

Created: 23 Jul 2020, 1:41 a.m.

Panel version: 0.80

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

Immunodeficiency, common variable, 11 MIM#615767

OMIM

605384

Clinvar variants

Variants in IL21

Penetrance

None

Publications

Panels with this gene

History Filter Activity

23 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: il21 has been classified as Red List (Low Evidence).

23 Jul 2020, Gel status: 1

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