Severe Combined Immunodeficiency (absent T present B cells)
Gene: IL7REnsemblGeneIds (GRCh38): ENSG00000168685
EnsemblGeneIds (GRCh37): ENSG00000168685
OMIM: 146661, Gene2Phenotype
IL7R is in 8 panels
1 review
Danielle Ariti (University of Melbourne)
6 unrelated probands with 9 unique variants (missense, splicing, nonsense, and frameshift) have been reported).
Two IL7R null mice models demonstrating a phenotype consistent with T cell Lymphopaenia
Typical patient immunological phenotype consisted of absent/ low T-cells, decreased immunoglobulins with normal-high B and NK cell numbers.Created: 26 Aug 2021, 5:14 a.m. | Last Modified: 26 Aug 2021, 5:14 a.m.
Panel Version: 0.28
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971; low T-cell numbers; normal-high B and NK-cell numbers; fever; rash; failure to thrive; recurrent respiratory and gastric infections; Hepatomegaly; Splenomegaly; diarrhoea; lymphadenopathy; pneumonitis; Pancytopaenia; decreased immunoglobulins
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- severe combined immunodeficiency 104 MIM#608971
- OMIM
- 146661
- Clinvar variants
- Variants in IL7R
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)Phenotypes for gene: IL7R were changed from severe combined immunodeficiency 104 MIM#608971 to severe combined immunodeficiency 104 MIM#608971
Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)Phenotypes for gene: IL7R were changed from Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971; low T-cell numbers; normal-high B and NK-cell numbers; fever; rash; failure to thrive; recurrent respiratory and gastric infections; Hepatomegaly; Splenomegaly; diarrhoea; lymphadenopathy; pneumonitis; Pancytopaenia; decreased immunoglobulins to severe combined immunodeficiency 104 MIM#608971
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: il7r has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: IL7R were changed from to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971; low T-cell numbers; normal-high B and NK-cell numbers; fever; rash; failure to thrive; recurrent respiratory and gastric infections; Hepatomegaly; Splenomegaly; diarrhoea; lymphadenopathy; pneumonitis; Pancytopaenia; decreased immunoglobulins
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: IL7R were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: IL7R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: IL7R was added gene: IL7R was added to Severe combined immunodeficiency (absent T, present B cells)_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: IL7R was set to Unknown