Genomics England

VAMP2

vesicle associated membrane protein 2

Panel	Mode of inheritance	Details
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Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 6.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes axial hypotonia intellectual disability autistic features central visual impairment hyperkinetic movement disorder epilepsy or electroencephalography abnormalities
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes INTELLECTUAL DISABILITY 616579
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Cortical visual impairment, Seizures, Stereotypic behavior, Generalized hypotonia, Intellectual disability, Abnormality of movement, Global developmental delay, Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment, Autistic behavior
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Cortical visual impairment, Seizures, Stereotypic behavior, Generalized hypotonia, Intellectual disability, Abnormality of movement, Global developmental delay, Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment, Autistic behavior
Green in Paroxysmal central nervous system disorders R-numbers: R66 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes axial hypotonia, intellectual disability, autistic features, central visual impairment, hyperkinetic movement disorder, epilepsy or electroencephalography abnormalities