PAX3 - Gene browser

PAX3

paired box 3

HCNC Approved Symbol: PAX3 (HGNC:8617)
Genomic Coordinates: 2:222,199,887 - 222,298,998 (2q36.1)
Synonyms: HUP2, PAX-3, WS1
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

10Patients

In total, 10 patients were diagnosed with a variant in the PAX3 gene.

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

010
Patient count

Blue irides: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Hypertelorism: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Bulbous nasal tip: 1 (10.0%)
Patient Count: 1 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (10.0%)
Bulbous nose: 1 (10.0%)
Patient Count: 1 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (10.0%)
Intellectual disability, mild: 1 (10.0%)
Patient Count: 1 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (10.0%)