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Intellectual disability syndromic and non-syndromic

Gene: GYS2

Red List (low evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

ID is not typically a feature.
Created: 4 Dec 2019, 7:54 p.m. | Last Modified: 4 Dec 2019, 7:54 p.m.
Panel Version: 0.332

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease 0, liver, MIM#240600

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Glycogen storage disease 0, liver, MIM#240600
OMIM
138571
Clinvar variants
Variants in GYS2
Penetrance
None
Panels with this gene

History Filter Activity

4 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gys2 has been classified as Red List (Low Evidence).

4 Dec 2019, Gel status: 1

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

4 Dec 2019, Gel status: 1

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

4 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gys2 has been classified as Red List (Low Evidence).

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GYS2 was set to Unknown