Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CTNNBL1
Comment on list classification: Relevant phenotype for this panel, but additional cases required to validate pathogenicity.Created: 17 Sep 2020, 1:55 p.m. | Last Modified: 17 Sep 2020, 1:55 p.m.
Panel Version: 2.185
PMID: 32484799 (2020) - One patient with common variable immunodeficiency associated with autoimmune cytopenia (CVID+AIC), associated with a homozygous missense M466V variant in the CTNNBL1 gene. Functional studies showed that the variant impaired interaction with AID, in turn disrupting AID-mediated antibody diversification in activated B-cells.Created: 17 Sep 2020, 1:54 p.m. | Last Modified: 17 Sep 2020, 1:54 p.m.
Panel Version: 2.184
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Sources: LiteratureCreated: 2 Sep 2020, 7:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Immunodeficiency; Autoimmune Cytopenias; Common variable immunodeficiency
Publications
Gene: ctnnbl1 has been classified as Red List (Low Evidence).
gene: CTNNBL1 was added gene: CTNNBL1 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: CTNNBL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTNNBL1 were set to 32484799 Phenotypes for gene: CTNNBL1 were set to Primary Immunodeficiency; Autoimmune Cytopenias; Common variable immunodeficiency Penetrance for gene: CTNNBL1 were set to unknown Review for gene: CTNNBL1 was set to AMBER