Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Mendeliome v1.1551 | LCP2 | Achchuthan Shanmugasundram reviewed gene: LCP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37211057; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.750 | LCP2 | Zornitza Stark Publications for gene: LCP2 were set to 33231617 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.749 | LCP2 | Zornitza Stark Classified gene: LCP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.749 | LCP2 | Zornitza Stark Gene: lcp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v1.748 | LCP2 | Zornitza Stark edited their review of gene: LCP2: Added comment: PMID 36474126: second individual reported. Functional data.; Changed rating: GREEN; Changed publications: 33231617, 36474126 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.8084 | LCP2 | Zornitza Stark Phenotypes for gene: LCP2 were changed from Severe combined immunodeficiency to Immunodeficiency 81, MIM# 619374; Severe combined immunodeficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.8083 | LCP2 | Zornitza Stark edited their review of gene: LCP2: Changed phenotypes: Immunodeficiency 81, MIM# 619374, Severe combined immunodeficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.5461 | LCP2 | Zornitza Stark Marked gene: LCP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.5461 | LCP2 | Zornitza Stark Gene: lcp2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mendeliome v0.5461 | LCP2 |
Zornitza Stark gene: LCP2 was added gene: LCP2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: LCP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LCP2 were set to 33231617 Phenotypes for gene: LCP2 were set to Severe combined immunodeficiency Review for gene: LCP2 was set to RED Added comment: Infant with bi-allelic variants in this gene and early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation. Sources: Literature |