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Mackenzie's Mission_Reproductive Carrier Screening

Gene: GOSR2

Green List (high evidence)

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epilepsy, progressive myoclonic 6, 614018 (3)
OMIM
604027
Clinvar variants
Variants in GOSR2
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GOSR2 was added gene: GOSR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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 (3)