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Primary immunodeficiency

Gene: CTNNBL1

Red List (low evidence)

CTNNBL1 (catenin beta like 1)
EnsemblGeneIds (GRCh38): ENSG00000132792
EnsemblGeneIds (GRCh37): ENSG00000132792
OMIM: 611537, Gene2Phenotype
CTNNBL1 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

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

Boaz Palterer (University of Florence)

Red List (low evidence)

Sources: Literature
Created: 2 Sep 2020, 7:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary Immunodeficiency; Autoimmune Cytopenias; Common variable immunodeficiency

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Primary Immunodeficiency
  • Autoimmune Cytopenias
  • Common variable immunodeficiency
OMIM
611537
Clinvar variants
Variants in CTNNBL1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

17 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ctnnbl1 has been classified as Red List (Low Evidence).

2 Sep 2020, Gel status: 0

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

Boaz Palterer (University of Florence)

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