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  3. GYS2
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Glycogen Storage Diseases

Gene: GYS2

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

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

>5 patients and different variants reported in patients with GSD 0
Created: 29 Jan 2021, 2:38 a.m. | Last Modified: 29 Jan 2021, 2:38 a.m.
Panel Version: 0.26

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease 0, liver (MIM#240600)

Publications

Created: 29 Jan 2021, 2:38 a.m.
Last Modified: 29 Jan 2021, 2:38 a.m.
Panel version: 0.26

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease 0, liver (MIM#240600)
OMIM
138571
Clinvar variants
Variants in GYS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gys2 has been classified as Green List (High Evidence).

29 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GYS2 were changed from to Glycogen storage disease 0, liver (MIM#240600)

29 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GYS2 were set to

29 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GYS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GYS2 was added gene: GYS2 was added to Glycogen Storage Diseases_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GYS2 was set to Unknown