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  3. CTNNBL1
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Predominantly Antibody Deficiency

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

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single case has been reported and a supporting null mouse model.
https://search.clinicalgenome.org/CCID:004601
Sources: Expert list
Created: 11 Nov 2024, 7:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
common variable immunodeficiency MONDO:0015517

Publications

Created: 11 Nov 2024, 7:49 a.m.

Panel version: 0.140

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: Imported from Mendeliome panel version 1.1232

Arina Puzriakova (Genomics England)

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: 17 Sep 2020, 1:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary Immunodeficiency; Autoimmune Cytopenias; Common variable immunodeficiency

Publications

Created: 17 Sep 2020, 1:58 p.m.

Panel version: Imported from Mendeliome panel version 0.4480

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Expert Review Amber
  • Literature
  • Expert Review Amber
Phenotypes
  • common variable immunodeficiency MONDO:0015517
OMIM
611537
Clinvar variants
Variants in CTNNBL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Nov 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CTNNBL1 was added gene: CTNNBL1 was added to Predominantly Antibody Deficiency. Sources: Expert list Mode of inheritance for gene: CTNNBL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTNNBL1 were set to 23343763; 32484799 Phenotypes for gene: CTNNBL1 were set to common variable immunodeficiency MONDO:0015517 Review for gene: CTNNBL1 was set to AMBER