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  2. Common Variable Immunodeficiency
  3. CTNNBL1
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Common Variable Immunodeficiency

Gene: CTNNBL1

Amber List (moderate evidence)
CTNNBL1 (catenin beta like 1)
EnsemblGeneIds (GRCh38): ENSG00000132792
EnsemblGeneIds (GRCh37): ENSG00000132792
OMIM: 611537, Gene2Phenotype
CTNNBL1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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.
Sources: Literature
Created: 18 Sep 2020, 12:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias, MIM# 619846

Publications

Created: 18 Sep 2020, 12:54 a.m.

Panel version: 1.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias, MIM# 619846
OMIM
611537
Clinvar variants
Variants in CTNNBL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CTNNBL1 were changed from Primary Immunodeficiency; Autoimmune Cytopenias; Common variable immunodeficiency to Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias, MIM# 619846

18 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctnnbl1 has been classified as Amber List (Moderate Evidence).

18 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctnnbl1 has been classified as Amber List (Moderate Evidence).

18 Sep 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CTNNBL1 was added gene: CTNNBL1 was added to Common Variable 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 Review for gene: CTNNBL1 was set to AMBER