PRRT2 - Gene browser

PRRT2

proline rich transmembrane protein 2

HCNC Approved Symbol: PRRT2 (HGNC:30500)
Genomic Coordinates: 16:29,812,193 - 29,815,881 (16p11.2)
Synonyms: FLJ25513, DKFZp547J199, IFITMD1, FICCA, DSPB3, PKC, EKD1, ICCA, DYT10
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

33Patients

In total, 33 patients were diagnosed with a variant in the PRRT2 gene.

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

033
Patient count

Epilepsy: 9 (27.3%)
Patient Count: 9 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
9 (27.3%)
Seizures: 5 (15.2%)
Patient Count: 5 (15.2%)
% of total patients presenting each phenotype is shown in parentheses.
5 (15.2%)
Paroxysmal dyskinesia: 4 (12.1%)
Patient Count: 4 (12.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (12.1%)
Paroxysmal choreoathetosis: 4 (12.1%)
Patient Count: 4 (12.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (12.1%)
Paroxysmal dystonia: 3 (9.1%)
Patient Count: 3 (9.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (9.1%)