Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: IL7

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 24 Feb 2025, 12:01 p.m. | Last Modified: 24 Feb 2025, 12:01 p.m.

Panel Version: 7.26

Comment on list classification: As reviewed by Cassandra Smith, PMID:39352394 reported the identification of biallelic IL7 variants in four unrelated kindreds with combined immunodeficiency and recurrent infections. Extensive immunophenotyping revealed IL7 dependent and independent development of T cells.

As there is sufficient evidence available, this gene should be promoted to green rating in the next GMS update.

Created: 7 Nov 2024, 9:58 a.m. | Last Modified: 7 Nov 2024, 9:58 a.m.

Panel Version: 7.6

Comment on phenotypes: This gene has not yet been associated with immunodeficiency phenotype either in OMIM or in Gene2Phenotype.

Created: 7 Nov 2024, 9:43 a.m. | Last Modified: 7 Nov 2024, 9:43 a.m.

Panel Version: 7.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
combined immunodeficiency, MONDO:0015131

Publications

• 39352394

4 families with biallelic LOF variants and immune deficiency. 2 families share the same variant on the same haplotype, still leaving three unrelated families.

Functional study investigates impact on immune system cells.

No biallelic pLOF variants in gnomAD.
Sources: Literature

Created: 1 Nov 2024, 10:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 39352394