VPS16

VPS16, CORVET/HOPS core subunit
OMIM: 608550
PanelMode of inheritanceDetails
3 panels
R-numbers: R56
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia 30, OMIM:619291, Dystonia Associated with Lysosomal Abnormalities
R-numbers: R57
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia 30, OMIM:619291, Dystonia Associated with Lysosomal Abnormalities
R-numbers: R276
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis-like syndrome (biallelic), Dystonia Associated with Lysosomal Abnormalities (monoallelic), Dystonia 30, OMIM:619291