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| Mendeliome v1.3508 | LCP1 | Zornitza Stark Phenotypes for gene: LCP1 were changed from Bone marrow failure syndrome, MONDO:0000159, LCP1-related to Combined immunodeficiency, MONDO:0015131, LCP1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3507 | LCP1 | Zornitza Stark Publications for gene: LCP1 were set to 38710235 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3506 | LCP1 | Zornitza Stark Classified gene: LCP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3506 | LCP1 | Zornitza Stark Gene: lcp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3505 | LCP1 |
Sarah Milton changed review comment from: LCP1 encodes lymphocyte cytosolic protein and has a role in actin cross-linking in haematopoietic cells. PMID: 41056520 describes 4 families with 10 affected individuals who presented with neutropenia +/- lymphopenia and hypogammaglobulinemia. 2 individuals developed acute leukemia. Variant type included missense, splice and inframe del. Appears there is some genotype phenotype correlation in regards to severity of disease. All variants appropriately rare in gnomAD v4. Supportive functional studies with IPSC produced with variant seen in affected individuals, these haematopoietic progenitors failed to produce CFU-G colonies with rescue upon introduction of gene corrected cells. PMID: 41056520 describes additional family with 5 affected individuals who also had neutropenia +/- lymphopenia, hypogammaglobulinemia as well as deafness.; to: LCP1 encodes lymphocyte cytosolic protein and has a role in actin cross-linking in haematopoietic cells. PMID: 41056520 describes 4 families with 10 affected individuals who presented with neutropenia +/- lymphopenia and hypogammaglobulinemia. 2 individuals developed acute leukemia. Variant type included missense, splice and inframe del. Appears there is some genotype phenotype correlation in regards to severity of disease. All variants appropriately rare in gnomAD v4. Supportive functional studies with IPSC produced with variant seen in affected individuals, these haematopoietic progenitors failed to produce CFU-G colonies with rescue upon introduction of gene corrected cells. Exact mechanism of disease remains unclear. PMID: 41056520 describes additional family with 5 affected individuals who also had neutropenia +/- lymphopenia, hypogammaglobulinemia as well as deafness. |
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| Mendeliome v1.3505 | LCP1 | Sarah Milton reviewed gene: LCP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40510848, PMID: 41056520; Phenotypes: Combined immunodeficiency, MONDO:0015131, LCP1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1784 | LCP1 | Zornitza Stark Marked gene: LCP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1784 | LCP1 | Zornitza Stark Gene: lcp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1784 | LCP1 | Zornitza Stark Classified gene: LCP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1784 | LCP1 | Zornitza Stark Gene: lcp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1783 | LCP1 |
Zornitza Stark gene: LCP1 was added gene: LCP1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: LCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LCP1 were set to 38710235 Phenotypes for gene: LCP1 were set to Bone marrow failure syndrome, MONDO:0000159, LCP1-related Review for gene: LCP1 was set to AMBER Added comment: 3 individuals from single kindred presenting with fevers, recurrent infections ,lymphopenia, neutropenia and thrombocytopenia. 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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