Genomics England
GMS Panels
Panels
Genes and Entities

VPS16

VPS16, CORVET/HOPS core subunit
OMIM: 608550
PanelMode of inheritanceDetails
4 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 3.19
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 4.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia 30, OMIM:619291, Dystonia Associated with Lysosomal Abnormalities
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis-like syndrome (biallelic), Dystonia Associated with Lysosomal Abnormalities (monoallelic), Dystonia 30, OMIM:619291
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