Ketotic hypoglycaemia

Gene: GYS1

Red List (low evidence)

GYS1 (glycogen synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000104812
EnsemblGeneIds (GRCh37): ENSG00000104812
OMIM: 138570, Gene2Phenotype
GYS1 is in 9 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted to red due to expert review.
Created: 7 Jun 2016, 2:33 p.m.

Alexander Broomfield (Central Manchester Foundation Trust)

Red List (low evidence)

skeletal muscle expression unlikley to cause hypoglycaemia
Created: 20 Oct 2015, 6:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Glycogen storage disease 0, muscle, 611556
  • Glycogen Storage Disease Type 0, Muscle
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease
OMIM
138570
Clinvar variants
Variants in GYS1
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 Apr 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Oct 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

GYS1 was added to Ketotic hypoglycaemiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN