Ketotic hypoglycaemia
Gene: GYS1
GYS1 (glycogen synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000104812
EnsemblGeneIds (GRCh37): ENSG00000104812
OMIM: 138570, Gene2Phenotype
GYS1 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000104812
EnsemblGeneIds (GRCh37): ENSG00000104812
OMIM: 138570, Gene2Phenotype
GYS1 is in 8 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)
skeletal muscle expression unlikley to cause hypoglycaemiaCreated: 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