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  3. GYS1
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Acute rhabdomyolysis

Gene: GYS1

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

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 16 Feb 2022, 2:32 p.m. | Last Modified: 16 Feb 2022, 2:32 p.m.
Panel Version: 0.6
Created: 16 Feb 2022, 2:32 p.m.
Last Modified: 16 Feb 2022, 2:32 p.m.
Panel version: 0.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Glycogen storage disease 0, muscle, OMIM:611556
OMIM
138570
Clinvar variants
Variants in GYS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jan 2022, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: GYS1 was added gene: GYS1 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GYS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GYS1 were set to 17928598; 19699667; 27604308; 30397902; 21958591; 24579562 Phenotypes for gene: GYS1 were set to Glycogen storage disease 0, muscle, OMIM:611556