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Primary immunodeficiency or monogenic inflammatory bowel disease v7.26 IL7 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: IL7.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.26 IL7 Achchuthan Shanmugasundram commented on gene: IL7: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.25 IL7 Achchuthan Shanmugasundram Source NHS GMS was added to IL7.
Source Expert Review Green was added to IL7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v7.6 IL7 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: IL7.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.6 IL7 Achchuthan Shanmugasundram Classified gene: IL7 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v7.6 IL7 Achchuthan Shanmugasundram Added comment: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.6 IL7 Achchuthan Shanmugasundram Gene: il7 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v7.5 IL7 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has not yet been associated with immunodeficiency phenotype either in OMIM or in Gene2Phenotype.
Primary immunodeficiency or monogenic inflammatory bowel disease v7.5 IL7 Achchuthan Shanmugasundram Phenotypes for gene: IL7 were changed from to combined immunodeficiency, MONDO:0015131
Primary immunodeficiency or monogenic inflammatory bowel disease v7.4 IL7 Achchuthan Shanmugasundram reviewed gene: IL7: Rating: GREEN; Mode of pathogenicity: None; Publications: 39352394; Phenotypes: combined immunodeficiency, MONDO:0015131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v7.1 IL7 Cassandra Smith gene: IL7 was added
gene: IL7 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: IL7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL7 were set to 39352394
Added comment: 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
Primary immunodeficiency or monogenic inflammatory bowel disease v2.265 IL7R Eleanor Williams Classified gene: IL7R as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.265 IL7R Eleanor Williams Gene: il7r has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 IL7R Eleanor Williams Source Other was added to IL7R.
Publications for gene IL7R were updated from to 9843216
Rating Changed from Green List (high evidence) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 IL7R Eleanor Williams reviewed gene: IL7R: Rating: ; Mode of pathogenicity: ; Publications: 9843216; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL7R Louise Daugherty commented on gene: IL7R: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL7R Louise Daugherty commented on gene: IL7R: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL7R Kimberly Gilmour commented on gene: IL7R: agree with green gene
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 IL7R Tracy Briggs commented on gene: IL7R: YES- this is covered on our targeted exome
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 IL7R Louise Daugherty Source NHS GMS was added to IL7R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 IL7R Louise Daugherty Source North West GLH was added to IL7R.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 IL7R Louise Daugherty Source London North GLH was added to IL7R.
Primary immunodeficiency or monogenic inflammatory bowel disease IL7R Louise Daugherty commented on gene: IL7R
Primary immunodeficiency or monogenic inflammatory bowel disease IL7R Louise Daugherty marked gene: IL7R as ready
Primary immunodeficiency or monogenic inflammatory bowel disease IL7R Louise Daugherty commented on IL7R
Primary immunodeficiency or monogenic inflammatory bowel disease IL7R Louise Daugherty commented on IL7R
Primary immunodeficiency or monogenic inflammatory bowel disease IL7R Louise Daugherty reviewed IL7R