Inflammatory bowel disease
Gene: IL21EnsemblGeneIds (GRCh38): ENSG00000138684
EnsemblGeneIds (GRCh37): ENSG00000138684
OMIM: 605384, Gene2Phenotype
IL21 is in 4 panels
3 reviews
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Only a single case reportedCreated: 10 Nov 2024, 3:41 a.m. | Last Modified: 10 Nov 2024, 3:41 a.m.
Panel Version: 0.122
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency, common variable, 11, MIM# 615767
Aimee Huynh (Queensland Health)
IL-21 deficiency - a novel monogenetic cause of severe, early-onset IBD associated with a CVID-like primary immunodeficiency. One case of a turkish boy born to consanguinous parents, diagnosed with IBD in early years (diarrhea from 2 months of age, worsened over time, biopsy typical of Crohn's). This proband had 2 siblings who had early onset IBD before age 1 year and died.
Sources: Expert ReviewCreated: 24 Mar 2023, 12:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
immunodeficiency; inflammatory bowel disease
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Immunodeficiency, common variable, 11, MIM# 615767
- OMIM
- 605384
- Clinvar variants
- Variants in IL21
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: il21 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: il21 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: IL21 were changed from immunodeficiency; inflammatory bowel disease to Immunodeficiency, common variable, 11, MIM# 615767
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: il21 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Aimee Huynh (Queensland Health)gene: IL21 was added gene: IL21 was added to Inflammatory bowel disease. Sources: Expert Review Mode of inheritance for gene: IL21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL21 were set to 24746753 Phenotypes for gene: IL21 were set to immunodeficiency; inflammatory bowel disease Penetrance for gene: IL21 were set to unknown Review for gene: IL21 was set to AMBER gene: IL21 was marked as current diagnostic