CTNNB1 - Gene browser

CTNNB1

catenin beta 1

HCNC Approved Symbol: CTNNB1 (HGNC:2514)
Genomic Coordinates: 3:41,199,505 - 41,240,443 (3p22.1)
Synonyms: beta-catenin, armadillo, CTNNB
Disease Associations: This gene is associated with the following 7 diseases in OMIM.

Diagnosed Cases

36Patients

In total, 36 patients were diagnosed with a variant in the CTNNB1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

036
Patient count

Microcephaly: 16 (44.4%)
Patient Count: 16 (44.4%)
% of total patients presenting each phenotype is shown in parentheses.
16 (44.4%)
Intellectual disability: 10 (27.8%)
Patient Count: 10 (27.8%)
% of total patients presenting each phenotype is shown in parentheses.
10 (27.8%)
Strabismus: 9 (25.0%)
Patient Count: 9 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
9 (25.0%)
Global developmental delay: 8 (22.2%)
Patient Count: 8 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
8 (22.2%)
Developmental delay: 8 (22.2%)
Patient Count: 8 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
8 (22.2%)