PTCH1 - Gene browser

PTCH1

patched 1

HCNC Approved Symbol: PTCH1 (HGNC:9585)
Genomic Coordinates: 9:95,442,980 - 95,516,971 (9q22.32)
Synonyms: BCNS, NBCCS, PTCH
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

22Patients

In total, 22 patients were diagnosed with a variant in the PTCH1 gene.

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

022
Patient count

Basal cell carcinoma: 5 (22.7%)
Patient Count: 5 (22.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (22.7%)
Palmar pits: 4 (18.2%)
Patient Count: 4 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
4 (18.2%)
Pectus excavatum: 3 (13.6%)
Patient Count: 3 (13.6%)
% of total patients presenting each phenotype is shown in parentheses.
3 (13.6%)
Odontogenic keratocysts of the jaw: 2 (9.1%)
Patient Count: 2 (9.1%)
% of total patients presenting each phenotype is shown in parentheses.
2 (9.1%)
Frontal bossing: 2 (9.1%)
Patient Count: 2 (9.1%)
% of total patients presenting each phenotype is shown in parentheses.
2 (9.1%)