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  3. GYS1
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Glycogen storage disease

Gene: GYS1

Green List (high evidence)
GYS1 (glycogen synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000104812
EnsemblGeneIds (GRCh37): ENSG00000104812
OMIM: 138570, Gene2Phenotype
GYS1 is in 8 panels

2 reviews

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 13 Feb 2019, 1:09 p.m.

Panel version: 0.3

Carol Hardy (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease 0, muscle 611556

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Feb 2019, 1:09 p.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • London North GLH
  • Expert Review Green
Phenotypes
  • Glycogen storage disease 0, muscle 611556
OMIM
138570
Clinvar variants
Variants in GYS1
Penetrance
None
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: GYS1 was added gene: GYS1 was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: GYS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GYS1 were set to Glycogen storage disease 0, muscle 611556