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.

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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

SOURCES: ORPHANET MESH OMIM


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

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

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

GYS2 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the GYS2 gene.

More info about this panel

GYS2 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the GYS2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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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

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GYS2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GYS2 gene.

More info about this panel

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

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

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

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

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

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

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


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