GYS2 gene related symptoms and diseases
All the information presented here about the GYS2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GYS2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Hyperglycemia | Very Common - Between 80% and 100% cases |
| Ketotic hypoglycemia | Very Common - Between 80% and 100% cases |
| Postprandial hyperglycemia | Very Common - Between 80% and 100% cases |
| Fasting hypoglycemia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with GYS2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormality of the gastrointestinal tract
- Ketonuria
- Ketosis
- Neonatal hypoglycemia
- Drowsiness
- Glycosuria
- Hyperlipidemia
- Global developmental delay
And 11 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GYS2 gene
Here you will find a list of rare diseases related to the GYS2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GLYCOGEN STORAGE DISEASE DUE TO HEPATIC GLYCOGEN SYNTHASE DEFICIENCY
Alternate names
GLYCOGEN STORAGE DISEASE DUE TO HEPATIC GLYCOGEN SYNTHASE DEFICIENCY Is also known as gsd 0a, gsd type 0a, glycogen storage disease type 0a, glycogen storage disease due to liver glycogen synthase deficiency, glycogenosis type 0a, hypoglycemia with deficiency of glycogen synthetase in the liver, gsd due to hepatic glycogen synthase deficiency, li
Description
Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.
Most common symptoms of GLYCOGEN STORAGE DISEASE DUE TO HEPATIC GLYCOGEN SYNTHASE DEFICIENCY
- Seizures
- Global developmental delay
- Short stature
- Failure to thrive
- Fatigue
More info about GLYCOGEN STORAGE DISEASE DUE TO HEPATIC GLYCOGEN SYNTHASE DEFICIENCY
Search interest in GYS2
Potential gene panels for GYS2 gene
ALDOB, FBP1,GYS2 & PC Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories ALDOB, FBP1,GYS2 & PC Sequence Analysis that also includes the following genes: FBP1 ALDOB GYS2 PC
More info about this panel United States.
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
GYS2 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the GYS2 gene.
More info about this panel United States.
GYS2 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the GYS2 gene.
More info about this panel United States.
GYS2 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the GYS2 gene.
More info about this panel United States.
GYS2 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the GYS2 gene.
More info about this panel United States.
Glycogen synthase deficiency Type 0, liver Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the GYS2 gene.
More info about this panel United States.
Comprehensive Mitochondrial Metabolic Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panel United States.
Gluconeogenesis Disorders Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Gluconeogenesis Disorders that also includes the following genes: FBP1 ALDOB GYS2 PC
More info about this panel United States.
Glycogen Storage Disease and Gluconeogenesis Sequencing Panel Panel
Czech Republic.
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague Glycogen Storage Disease and Gluconeogenesis Sequencing Panel that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA ALDOA ALDOB GBE1
More info about this panel Czech Republic.
Glycogen Storage Disease Type 0, Liver Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the GYS2 gene.
More info about this panel United Kingdom.
Glycogen Storage Disease- Liver Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Glycogen Storage Disease- Liver that also includes the following genes: SLC2A2 AGL FBP1 G6PC SLC37A4 GBE1 GYG2 GYS2 PFKL PHKA2
More info about this panel United Kingdom.
GYS2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GYS2 gene.
More info about this panel Spain.
Ketotic Hypoglycemia Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Ketotic Hypoglycemia Seq + Del/Dup Panel that also includes the following genes: SLC16A1 AGL G6PC SLC37A4 GYS2 PHKA2 PHKB PHKG2 ACAT1 PYGL
More info about this panel United States.
Ketotic Hypoglycemia Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Ketotic Hypoglycemia Del/Dup Panel that also includes the following genes: SLC16A1 AGL G6PC SLC37A4 GYS2 PHKA2 PHKB PHKG2 ACAT1 PYGL
More info about this panel United States.
Glycogen Storage Disease Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Glycogen Storage Disease Del/Dup Panel that also includes the following genes: SLC16A1 SLC2A2 AGL FBP1 G6PC SLC37A4 GAA GBE1 GYS2 PCK1
More info about this panel United States.
Ketotic Hypoglycemia Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Ketotic Hypoglycemia Seq Analysis that also includes the following genes: SLC16A1 AGL G6PC SLC37A4 GYS2 PHKA2 PHKB PHKG2 ACAT1 PYGL
More info about this panel United States.
Glycogen Storage Disease Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Glycogen Storage Disease Seq + Del/Dup Panel that also includes the following genes: SLC16A1 SLC2A2 AGL FBP1 G6PC SLC37A4 GAA GBE1 GYS2 PCK1
More info about this panel United States.
Glycogen Storage Disease Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Glycogen Storage Disease Seq Analysis that also includes the following genes: SLC16A1 SLC2A2 AGL FBP1 G6PC SLC37A4 GAA GBE1 GYS2 PCK1
More info about this panel United States.
Glycogenosis type 0 (sequence analysis of GYS2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GYS2 gene.
More info about this panel Portugal.
Glycogen storage disease (NGS panel for 13 genes) Panel
Portugal.
By CGC Genetics Glycogen storage disease (NGS panel for 13 genes) that also includes the following genes: SLC2A2 AGL FBP1 G6PC SLC37A4 GAA GBE1 GYS2 PCK1 PHKA2
More info about this panel Portugal.
Glycogen storage disease (NGS panel for 22 genes) Panel
Portugal.
By CGC Genetics Glycogen storage disease (NGS panel for 22 genes) that also includes the following genes: SLC2A2 AGL ENO3 G6PC SLC37A4 GAA ALDOA GBE1 GYG1 GYS1
More info about this panel Portugal.
Glycogen Storage Disease Type 0, Liver Panel
Netherlands.
By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center
This panel specifically test the GYS2 gene.
More info about this panel Netherlands.
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection that also includes the following genes: SLC16A1 SLC2A2 AGL ENO3 G6PC SLC37A4 GAA ALDOA ALDOB GBE1
More info about this panel United States.
Metabolic Hypoglycemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Metabolic Hypoglycemia Sequencing Panel with CNV Detection that also includes the following genes: SLC16A1 SLC2A2 ACSF3 AGL FBP1 G6PC SLC37A4 GALT ALDOB GYS2
More info about this panel United States.
Glycogen Storage Disease Type 0 via Glycogen Synthase 2 (GYS2) Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the GYS2 gene.
More info about this panel United States.
Glycogen storage disease type 0 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GYS2 gene.
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel
Estonia.
By Asper Biogene Asper Biogene LLC Mitochondrial Diseases (mtDNA and 133 nuclear genes) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SLC25A4 SLC6A8 SOD1 SPG7 SUCLA2 SUCLG1
More info about this panel Estonia.
Glycogen Storage Disease Panel
Estonia.
By Asper Biogene Asper Biogene LLC Glycogen Storage Disease that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA ALDOA GBE1 GYG1
More info about this panel Estonia.
Invitae Liver Glycogen Storage Disease Panel Panel
United States.
By Invitae Invitae Liver Glycogen Storage Disease Panel that also includes the following genes: SLC2A2 AGL FBP1 G6PC SLC37A4 GBE1 GYS2 PHKA2 PHKB PHKG2
More info about this panel United States.
Invitae Comprehensive Glycogen Storage Disease Panel Panel
United States.
By Invitae Invitae Comprehensive Glycogen Storage Disease Panel that also includes the following genes: SLC2A2 RBCK1 AGL ENO3 FBP1 G6PC SLC37A4 GAA ALDOA GBE1
More info about this panel United States.
GLYCOGEN STORAGE DISEASE Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases GLYCOGEN STORAGE DISEASE that also includes the following genes: SLC2A2 AGL ENO3 G6PC SLC37A4 GAA ALDOA GBE1 GYG1 GYS1
More info about this panel Spain.
Glycogen Storage Disorders- Liver: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders- Liver: Sequencing Panel that also includes the following genes: SLC2A2 AGL FBP1 G6PC SLC37A4 GBE1 GYS2 PHKA2 PHKB PHKG2
More info about this panel United States.
Glycogen Storage Disorders: Comprehensive Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders: Comprehensive Sequencing Panel that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA GBE1 GYS1 GYS2
More info about this panel United States.
Inherited Metabolic Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Inherited Metabolic Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC7A7 SMPD1 SUCLG1 TAZ LPIN1
More info about this panel United States.
Glycogen Storage Disorders- Liver: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders- Liver: Deletion/Duplication Panel that also includes the following genes: SLC2A2 AGL FBP1 G6PC SLC37A4 GBE1 GYS2 PHKA2 PHKB PHKG2
More info about this panel United States.
Glycogen Storage Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders: Deletion/Duplication Panel that also includes the following genes: SLC2A2 AGL ENO3 FBP1 G6PC SLC37A4 GAA GBE1 GYS1 GYS2
More info about this panel United States.
Lactic Acidosis-Pyruvate NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Lactic Acidosis-Pyruvate NGS Panel that also includes the following genes: BCS1L SCO2 SLC25A3 SLC25A4 SUCLA2 SUCLG1 SURF1 TAZ TK2 TSFM
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
GYS2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GYS2 gene.
More info about this panel United States.
Glycogen Storage Disorder Panel Panel
Finland.
By Blueprint Genetics Glycogen Storage Disorder Panel that also includes the following genes: SLC2A2 RBCK1 NHLRC1 AGL ENO3 EPM2A FBP1 G6PC SLC37A4 GAA
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel Panel
Finland.
By Blueprint Genetics Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel that also includes the following genes: SLC16A1 SLC2A2 HNF1A UCP2 RBCK1 NHLRC1 PTF1A ACSF3 AGL ENO3
More info about this panel Finland.
GLYCOGEN STORAGE DISEASE, TYPE 0 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the GYS2 gene.
More info about this panel Spain.
GLYCOGEN STORAGE: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL GLYCOGEN STORAGE: NGS PANEL that also includes the following genes: AGL ENO3 G6PC SLC37A4 GAA ALDOA GBE1 GYG1 GYS1 GYS2
More info about this panel Spain.
Glycogen Storage Disease Type 0, Sequencing GYS2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GYS2 gene.
More info about this panel Spain.
Glycogen Storage Disease, Panel Massive Sequencing (NGS) 11 Genes Panel
Spain.
By Reference Laboratory Genetics Glycogen Storage Disease, Panel Massive Sequencing (NGS) 11 Genes that also includes the following genes: SLC2A2 AGL G6PC SLC37A4 GAA GBE1 GYS2 PFKM PHKA2 PYGL
More info about this panel Spain.
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