Genomics England
GMS Panels
Panels
Genes and Entities

GOSR2

golgi SNAP receptor complex member 2
OMIM: 604027
PanelMode of inheritanceDetails
3 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 6, 614018
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 6, 614018
Green
in Hereditary ataxia - adult onset
R-numbers: R54
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 6, 614018, Progressive myoclonic epilepsy 6, 614018