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  2. Likely inborn error of metabolism
  3. GYS1
Genes in panel
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Likely inborn error of metabolism

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

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rhabdomyolysis and metabolic muscle disorders

Publications

Created: 13 Jan 2017, 4:12 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.76

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least four variants reported in three cases (two homozygote and one compound heterozygote). Supportive in vitro studies reported and considerable evidence of GYS1 variants in equine rhabdomyolysis
Created: 16 Jan 2017, 4:10 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 1:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rhabdomyolysis and metabolic muscle disorders

Created: 6 Jan 2017, 1:59 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.15

Details

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

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GYS1. Source London North GLH was added to GYS1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: GYS1 was added gene: GYS1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GYS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GYS1 were set to 27604308; 21958591; 24579562 Phenotypes for gene: GYS1 were set to Glycogen storage disease 0, muscle