GOSR2

golgi SNAP receptor complex member 2
OMIM: 604027
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 4.40
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 6, 614018
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 6, 614018
R-numbers: R54
Signed-off version 4.26
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 6, 614018, Progressive myoclonic epilepsy 6, 614018