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Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 LCP2 Eleanor Williams Tag watchlist was removed from gene: LCP2.
Tag Q1_24_promote_green was removed from gene: LCP2.
Tag Q1_24_NHS_review was removed from gene: LCP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 LCP2 Eleanor Williams reviewed gene: LCP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v6.9 LCP2 Eleanor Williams Source NHS GMS was added to LCP2.
Source Expert Review Green was added to LCP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.191 LCP2 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three unrelated cases reported now with biallelic LCP2 variants. Hence, this gene should be rated green in the next GMS review.; to: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.191 LCP2 Achchuthan Shanmugasundram Classified gene: LCP2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.191 LCP2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases reported now with biallelic LCP2 variants. Hence, this gene should be rated green in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.191 LCP2 Achchuthan Shanmugasundram Gene: lcp2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.190 LCP2 Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: LCP2.
Tag Q1_24_NHS_review tag was added to gene: LCP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.190 LCP2 Achchuthan Shanmugasundram 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
Primary immunodeficiency or monogenic inflammatory bowel disease v4.189 LCP2 Achchuthan Shanmugasundram Publications for gene: LCP2 were set to 33231617
Primary immunodeficiency or monogenic inflammatory bowel disease v4.188 LCP2 Achchuthan Shanmugasundram reviewed gene: LCP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33231617, 36474126, 37211057; Phenotypes: ?Immunodeficiency 81, OMIM:619374; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.163 LCP2 Hannah Knight reviewed gene: LCP2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37211057, PMID: 36474126; Phenotypes: ?Immunodeficiency 81; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.384 LCP2 Arina Puzriakova Tag watchlist tag was added to gene: LCP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.384 LCP2 Arina Puzriakova Classified gene: LCP2 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.384 LCP2 Arina Puzriakova Added comment: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.384 LCP2 Arina Puzriakova Gene: lcp2 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.383 LCP2 Arina Puzriakova reviewed gene: LCP2: Rating: ; Mode of pathogenicity: None; Publications: 33231617; Phenotypes: Severe immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.379 LCP2 Boaz Palterer 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
Added comment: One patient with severe combined immunodeficiency was found to have biallelic mutations in SLP76.
Sources: Literature