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| Combined Immunodeficiency v1.34 | LCP2 | Zornitza Stark Marked gene: LCP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.34 | LCP2 | Zornitza Stark Gene: lcp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.34 | LCP2 | Zornitza Stark Phenotypes for gene: LCP2 were changed from to Immunodeficiency 81, MIM# 619374 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.33 | LCP2 | Zornitza Stark reviewed gene: LCP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 81, MIM# 619374; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.33 | LCP2 | Zornitza Stark Classified gene: LCP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.33 | LCP2 | Zornitza Stark Gene: lcp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.31 | LCP2 |
Peter McNaughton gene: LCP2 was added gene: LCP2 was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: LCP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LCP2 were set to PMID: 36474126; PMID: 33231617 Review for gene: LCP2 was set to GREEN Added comment: 3-year-old child who was born to first-cousins parents and presented with recurrent infections, failure to thrive, and severe EBV-related infection and lymphoproliferation. Functional testing linking gene with impaired t cell signalling. Previous unrelated patient reported in PMID: 33231617 with SCID phenotype. Sources: Literature |
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