Genetic Epilepsy
Gene: GOSR2

GOSR2 (golgi SNAP receptor complex member 2)
EnsemblGeneIds (GRCh38): ENSG00000108433
EnsemblGeneIds (GRCh37): ENSG00000108433
OMIM: 604027, Gene2Phenotype
GOSR2 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Progressive myoclonic epilepsy-6 is an autosomal recessive neurologic disorder characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade.

More than 10 individuals reported.
Created: 19 May 2022, 8:39 a.m. | Last Modified: 19 May 2022, 8:39 a.m.

Panel Version: 0.14597

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic 6 , MIM#614018

Publications

Created: 19 May 2022, 8:39 a.m.
Last Modified: 19 May 2022, 8:39 a.m.
Panel version: Imported from Mendeliome panel version 0.14597

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship
Victorian Clinical Genetics Services

Phenotypes

Epilepsy, progressive myoclonic 6 , MIM#614018

OMIM

604027

Clinvar variants

Variants in GOSR2

Penetrance

None

Publications

Panels with this gene