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| Combined Immunodeficiency v1.61 | LCP1 | Zornitza Stark Marked gene: LCP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.61 | LCP1 | Zornitza Stark Gene: lcp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.61 | LCP1 | Zornitza Stark Phenotypes for gene: LCP1 were changed from lymphopaenia and neutropaenia to Bone marrow failure syndrome, MONDO:0000159, LCP1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.60 | LCP1 | Zornitza Stark Classified gene: LCP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.60 | LCP1 | Zornitza Stark Gene: lcp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.59 | LCP1 | Zornitza Stark reviewed gene: LCP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Bone marrow failure syndrome, MONDO:0000159, LCP1-related; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.59 | LCP1 |
Peter McNaughton gene: LCP1 was added gene: LCP1 was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: LCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LCP1 were set to PMID: 38710235 Phenotypes for gene: LCP1 were set to lymphopaenia and neutropaenia Mode of pathogenicity for gene: LCP1 was set to Other Review for gene: LCP1 was set to AMBER Added comment: 3 individuals from single kindred presenting with fevers, recurrent infections ,lymphopaenia, neutropaenia and thrombocytopaenia. Murine model with similar phenotype. heterozygous LCP1c.740 -1G>A splice site variant hypothesized to cause dominant negative mode of inheritance Sources: Literature |
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