Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: LACC1
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.Created: 14 Feb 2024, 1:24 p.m. | Last Modified: 14 Feb 2024, 1:24 p.m.
Panel Version: 4.166
Comment on phenotypes: This gene has been associated with relevant phenotype in OMIM (MIM #618795), but not yet in Gene2Phenotype.Created: 14 Feb 2024, 1:21 p.m. | Last Modified: 14 Feb 2024, 1:21 p.m.
Panel Version: 4.164
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Juvenile arthritis, OMIM:618795
Publications
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: LiteratureCreated: 13 Feb 2024, 10:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Juvenile arthritis
Tag Q1_24_NHS_review tag was added to gene: LACC1.
Tag Q1_24_promote_green tag was added to gene: LACC1.
Gene: lacc1 has been classified as Amber List (Moderate Evidence).
Publications for gene: LACC1 were set to
Phenotypes for gene: LACC1 were changed from Juvenile arthritis to Juvenile arthritis, OMIM:618795
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