Genomics England
GMS Panels
Panels
Genes and Entities

VPS16

VPS16, CORVET/HOPS core subunit
OMIM: 608550
PanelMode of inheritanceDetails
3 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 3.12
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia 30, OMIM:619291, Dystonia Associated with Lysosomal Abnormalities
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 3.56
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia 30, OMIM:619291, Dystonia Associated with Lysosomal Abnormalities
Green
in Lysosomal storage disorder
R-numbers: R276
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis-like syndrome (biallelic), Dystonia Associated with Lysosomal Abnormalities (monoallelic), Dystonia 30, OMIM:619291