VAMP1

vesicle associated membrane protein 1
OMIM: 185880
PanelMode of inheritanceDetails
4 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
presynaptic CMS, Congenital myasthenic syndrome
R-numbers: R57
Signed-off version 1.137
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spastic ataxia 1, autosomal dominant, 108600
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R80
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myasthenic syndrome, presynaptic CMS
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital myasthenic syndrome (CMS) and delayed development