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Primary immunodeficiency or monogenic inflammatory bowel disease v4.166 LACC1 Achchuthan Shanmugasundram Tag Q1_24_NHS_review tag was added to gene: LACC1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.166 LACC1 Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: LACC1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.166 LACC1 Achchuthan Shanmugasundram Classified gene: LACC1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.166 LACC1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available for the association of this gene with juvenile arthritis and hence with this panel. So, this gene should be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.166 LACC1 Achchuthan Shanmugasundram Gene: lacc1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.165 LACC1 Achchuthan Shanmugasundram Publications for gene: LACC1 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v4.164 LACC1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotype in OMIM (MIM #618795), but not yet in Gene2Phenotype.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.164 LACC1 Achchuthan Shanmugasundram Phenotypes for gene: LACC1 were changed from Juvenile arthritis to Juvenile arthritis, OMIM:618795
Primary immunodeficiency or monogenic inflammatory bowel disease v4.163 LACC1 Achchuthan Shanmugasundram reviewed gene: LACC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25220867, 27881174, 29717096, 30872671; Phenotypes: Juvenile arthritis, OMIM:618795; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.163 LACC1 Hannah Knight gene: LACC1 was added
gene: LACC1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: LACC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LACC1 were set to Juvenile arthritis
Review for gene: LACC1 was set to GREEN
Added comment: PMID: 25220867 (2015) - in 13 patients and unaffected members of 5 consanguineous Saudi Arabian families with systemic juvenile idiopathic arthritis, a homozygous missense variant in LACC1 was identified (p.C284R). This segregated fully with disease, and haplotype analysis was consistent with a common founder for the 5 families. Systemic features were present including organomegaly, fevers and rashes
PMID: 27881174 (2016) - 2 Lebanese sisters with juvenile arthritis found to have a homozygous 1bp deletion in LACC1 (c.827delC). Present in heterozygosity in their unaffected consanguineous parents, but was not found in 2 unaffected sibs or in the ExAC database
PMID: 29717096 (2018) identified three different families with homozygous LACC1 variants (p.M1I, p.R414X, p.Ile330del)
PMID: 30872671 (2019) - three affected siblings with a homozygous variant (p.Cys43TyrfsTer6)
Sources: Literature