Ataxia - paediatric
Gene: GOSR2
GOSR2 (golgi SNAP receptor complex member 2)
EnsemblGeneIds (GRCh38): ENSG00000108433
EnsemblGeneIds (GRCh37): ENSG00000108433
OMIM: 604027, Gene2Phenotype
GOSR2 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000108433
EnsemblGeneIds (GRCh37): ENSG00000108433
OMIM: 604027, Gene2Phenotype
GOSR2 is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Epilepsy, progressive myoclonic 6, 614018
- Progressive myoclonic epilepsy 6, 614018
- OMIM
- 604027
- Clinvar variants
- Variants in GOSR2
- Penetrance
- None
- Panels with this gene
History Filter Activity
19 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GOSR2 was added gene: GOSR2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6, 614018; Progressive myoclonic epilepsy 6, 614018