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  2. Combined Immunodeficiency
  3. IL7
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Combined Immunodeficiency

Gene: IL7

Green List (high evidence)
IL7 (interleukin 7)
EnsemblGeneIds (GRCh38): ENSG00000104432
EnsemblGeneIds (GRCh37): ENSG00000104432
OMIM: 146660, Gene2Phenotype
IL7 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined immunodeficiency, MONDO:0015131, IL7-related

Created: 3 Oct 2024, 6:40 a.m.
Last Modified: 3 Oct 2024, 6:40 a.m.
Panel version: 1.71

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

6 patients from 4 kindreds with combined immune deficiency and recurrent infections. Extensive immunophenotyping revealing IL7 dependent and independent development of T cells.
Sources: Literature
Created: 3 Oct 2024, 2:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined Immune deficiency

Publications

Created: 3 Oct 2024, 2:47 a.m.

Panel version: 1.71

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Combined immunodeficiency, MONDO:0015131, IL7-related
OMIM
146660
Clinvar variants
Variants in IL7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: il7 has been classified as Green List (High Evidence).

3 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IL7 were changed from Combined Immune deficiency to Combined immunodeficiency, MONDO:0015131, IL7-related

3 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: il7 has been classified as Green List (High Evidence).

3 Oct 2024, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

gene: IL7 was added gene: IL7 was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: IL7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL7 were set to PMID: 39352394 Phenotypes for gene: IL7 were set to Combined Immune deficiency Review for gene: IL7 was set to GREEN