Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Mackenzie's Mission_Reproductive Carrier Screening

Gene: GYS2

Green List (high evidence)

GYS2 (glycogen synthase 2)
EnsemblGeneIds (GRCh38): ENSG00000111713
EnsemblGeneIds (GRCh37): ENSG00000111713
OMIM: 138571, Gene2Phenotype
GYS2 is in 7 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Glycogen storage disease 0, liver, 240600 (3)
OMIM
138571
Clinvar variants
Variants in GYS2
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: GYS2 was added gene: GYS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GYS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GYS2 were set to Glycogen storage disease 0, liver, 240600 (3)