TOR1A

torsin family 1 member A
OMIM: 605204
PanelMode of inheritanceDetails
3 panels
R-numbers: R56
Signed-off version 1.121
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia-1, torsion, OMIM:128100, Dystonic disorder, MONDO:0003441
R-numbers: R83
Signed-off version 3.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
arthrogryposis with developmental delay, strabismus and tremor, Dystonia-1, torsion, 128100
R-numbers: R57
Signed-off version 1.137
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia-1, torsion, OMIM:128100, Dystonic disorder, MONDO:0003441