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Inborn errors of metabolism

Gene: GYS2

Green List (high evidence)

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Glycogen Storage Disease
  • Glycogen Storage Disease Type 0, Liver
  • Glycogen Storage Disorders- Liver
  • Glycogen storage disease type 0a, liver (Glycogen storage disorders)
  • Glycogen storage disease, type 0, 240600
  • fasting intolerance without enlarged liver
OMIM
138571
Clinvar variants
Variants in GYS2
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 GYS2. Source London North GLH was added to GYS2.

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: GYS2 was added gene: GYS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GYS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GYS2 were set to 27604308 Phenotypes for gene: GYS2 were set to Glycogen Storage Disease; Glycogen Storage Disease Type 0, Liver; Glycogen Storage Disorders- Liver; Glycogen storage disease type 0a, liver (Glycogen storage disorders); Glycogen storage disease, type 0, 240600; fasting intolerance without enlarged liver