TOR1A - Gene browser

TOR1A

torsin family 1 member A

HCNC Approved Symbol: TOR1A (HGNC:3098)
Genomic Coordinates: 9:129,812,942 - 129,824,136 (9q34.11)
Synonyms: DQ2, DYT1
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

6Patients

In total, 6 patients were diagnosed with a variant in the TOR1A gene.

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

06
Patient count

Dystonia: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Arthrogryposis multiplex: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Dysmorphism: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Hirschsprung megacolon: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)
Kyphoscoliosis: 1 (16.7%)
Patient Count: 1 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (16.7%)