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Predominantly Antibody Deficiency v0.141 CTNNBL1 Bryony Thompson Marked gene: CTNNBL1 as ready
Predominantly Antibody Deficiency v0.141 CTNNBL1 Bryony Thompson Gene: ctnnbl1 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.141 CTNNBL1 Bryony Thompson Classified gene: CTNNBL1 as Amber List (moderate evidence)
Predominantly Antibody Deficiency v0.141 CTNNBL1 Bryony Thompson Gene: ctnnbl1 has been classified as Amber List (Moderate Evidence).
Predominantly Antibody Deficiency v0.140 CTNNBL1 Bryony Thompson 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
Added comment: A single case has been reported and a supporting null mouse model.
https://search.clinicalgenome.org/CCID:004601
Sources: Expert list