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Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 | CXCR2 | Achchuthan Shanmugasundram Tag Q4_23_NHS_review tag was added to gene: CXCR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 | CXCR2 | Achchuthan Shanmugasundram Classified gene: CXCR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 | CXCR2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there are five unrelated cases with biallelic CXCR2 variants. Hence, this gene can be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 | CXCR2 | Achchuthan Shanmugasundram Gene: cxcr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.39 | CXCR2 | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CXCR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.39 | CXCR2 | Achchuthan Shanmugasundram reviewed gene: CXCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?WHIM syndrome 2, OMIM:619407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 | CXCR2 | Hannah Knight reviewed gene: CXCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24777453, 34854278; Phenotypes: ?WHIM syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.484 | CXCR2 | Sophie Hambleton reviewed gene: CXCR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.452 | CXCR2 | Arina Puzriakova Phenotypes for gene: CXCR2 were changed from WHIM syndrome 2 619407 to WHIM syndrome 2, OMIM:619407 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.451 | CXCR2 | Arina Puzriakova Classified gene: CXCR2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.451 | CXCR2 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Only a single family with variants in this gene and WHIM syndrome described to date. Rating Red until further evidence emerges. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.451 | CXCR2 | Arina Puzriakova Gene: cxcr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.441 | CXCR2 |
Zornitza Stark gene: CXCR2 was added gene: CXCR2 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: CXCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CXCR2 were set to 24777453 Phenotypes for gene: CXCR2 were set to WHIM syndrome 2 619407 Review for gene: CXCR2 was set to RED Added comment: 2 sisters with neutropaenia, myelokathexis, and recurrent bacterial infections and homozygous frameshift variant in this gene. Sources: Literature |