VAMP2:Ensemblv115

vesicle associated membrane protein 2
OMIM: 185881, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green VAMP2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760
  • Cortical visual impairment
  • Seizures
  • Stereotypic behaviour
  • Generalized hypotonia
  • Intellectual disability

Green VAMP2 in Dystonia - complex


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760
  • Dystonia
  • Cortical visual impairment
  • Seizures
  • Stereotypic behaviour
  • Generalized hypotonia
  • Intellectual disability