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  3. GYG1
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Glycogen Storage Diseases

Gene: GYG1

Green List (high evidence)
GYG1 (glycogenin 1)
EnsemblGeneIds (GRCh38): ENSG00000163754
EnsemblGeneIds (GRCh37): ENSG00000163754
OMIM: 603942, Gene2Phenotype
GYG1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Presents as predominant skeletal myopathy or cardiomyopathy
Created: 26 Feb 2021, 9:54 a.m. | Last Modified: 26 Feb 2021, 9:54 a.m.
Panel Version: 0.49

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease XV, MIM# 613507; Polyglucosan body myopathy 2, MIM# 616199

Publications

Created: 26 Feb 2021, 9:54 a.m.
Last Modified: 26 Feb 2021, 9:54 a.m.
Panel version: 0.49

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease XV, MIM# 613507
  • Polyglucosan body myopathy 2, MIM# 616199
OMIM
603942
Clinvar variants
Variants in GYG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gyg1 has been classified as Green List (High Evidence).

26 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GYG1 were changed from to Glycogen storage disease XV, MIM# 613507; Polyglucosan body myopathy 2, MIM# 616199

26 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GYG1 were set to

26 Feb 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GYG1 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: GYG1 was added gene: GYG1 was added to Glycogen Storage Diseases_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GYG1 was set to Unknown