Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: LCP2
Comment on list classification: There are three unrelated cases reported with biallelic LCP2 variants and functional data available in support of the disease association. Hence, this gene should be rated green in the next GMS review.Created: 20 Feb 2024, 5:19 p.m. | Last Modified: 20 Feb 2024, 5:38 p.m.
Panel Version: 4.191
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Immunodeficiency 81, OMIM:619374
Publications
Two more patients reported:
PMID: 36474126 (2023) - 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 proliferation. Novel homozygous frameshift variant (p.Q331Sfs*6)
PMID: 37211057 (2023) - 26-year-old man who presented with specific antibody deficiency, autoimmunity, and inflammatory bowel disease since early childhood. Compound heterozygous missense variants (p.P190R and p.R204W)Created: 1 Feb 2024, 2:27 p.m. | Last Modified: 1 Feb 2024, 2:27 p.m.
Panel Version: 4.163
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Immunodeficiency 81
Publications
Comment on list classification: New gene added by Boaz Palterer (University of Florence). Rating Red pending publication of the Lev et al., 2021 article. Paper only describes a single individual and additional cases would be required before inclusion of LCP2 on an immunodeficiency panel.Created: 1 Dec 2020, 3:27 p.m. | Last Modified: 1 Dec 2020, 3:27 p.m.
Panel Version: 2.384
Not associated with any phenotype in OMIM or Gene2Phenotype.
PMID: 33231617 (2021) - Full paper is not yet published and will be available in the March 2021 issue of JEM. Based on the Brief Definitive Report: Infant with biallelic variants in the LCP2 gene and severe immunodeficiency characterised by early-onset life-threatening infections, combined T and B cell immunodeficiency, severe neutrophil defects, and impaired platelet aggregation. Functional studies showed that aspects of the patient's immune phenotype could be recapitulated using an LCP2-deficient Jurkat-derived T cell line and subsequently rescued by ectopic expression of wild-type LCP2.Created: 1 Dec 2020, 3:18 p.m. | Last Modified: 1 Dec 2020, 3:18 p.m.
Panel Version: 2.383
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe immunodeficiency
Publications
One patient with severe combined immunodeficiency was found to have biallelic mutations in SLP76.
Sources: LiteratureCreated: 27 Nov 2020, 10:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SCID; combined T and B cell immunodeficiency; severe neutrophil defects; impaired platelet aggregation
Publications
Gene: lcp2 has been classified as Amber List (Moderate Evidence).
Tag Q1_24_promote_green tag was added to gene: LCP2. Tag Q1_24_NHS_review tag was added to gene: LCP2.
Phenotypes for gene: LCP2 were changed from SCID; combined T and B cell immunodeficiency; severe neutrophil defects; impaired platelet aggregation to ?Immunodeficiency 81, OMIM:619374
Publications for gene: LCP2 were set to 33231617
Tag watchlist tag was added to gene: LCP2.
Gene: lcp2 has been classified as Red List (Low Evidence).
gene: LCP2 was added gene: LCP2 was added to Primary immunodeficiency. 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 SCID; combined T and B cell immunodeficiency; severe neutrophil defects; impaired platelet aggregation Penetrance for gene: LCP2 were set to unknown Review for gene: LCP2 was set to AMBER