VAMP2

vesicle associated membrane protein 2
OMIM: 185881
PanelMode of inheritanceDetails
4 panels
R-numbers: R57
Signed-off version 1.137
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
axial hypotonia intellectual disability autistic features central visual impairment hyperkinetic movement disorder epilepsy or electroencephalography abnormalities
R-numbers: R59
Signed-off version 2.2
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
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
R-numbers: R66
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
axial hypotonia, intellectual disability, autistic features, central visual impairment, hyperkinetic movement disorder, epilepsy or electroencephalography abnormalities