Genomics England

VPS16, CORVET/HOPS core subunit

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 4.0	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 5.4	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 6.14	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