GBE1 gene related symptoms and diseases

All the information presented here about the GBE1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GBE1 gene

Symptoms // Phenotype % Cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Decreased liver function Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Hepatomegaly Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with GBE1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Cirrhosis
  • Generalized hypotonia
  • Failure to thrive
  • Reduced tendon reflexes
  • Peripheral neuropathy
  • Seizures
  • Skeletal muscle atrophy
  • Hepatic fibrosis

And 160 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GBE1 gene

Here you will find a list of rare diseases related to the GBE1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD NEUROMUSCULAR FORM


Alternate names

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD NEUROMUSCULAR FORM Is also known as gsd due to glycogen branching enzyme deficiency, childhood neuromuscular form, gbe deficiency, childhood neuromuscular form, glycogenosis type iv, childhood neuromuscular form, glycogenosis type 4, childhood neuromuscular form, gsdiv, childhood neuromuscular


More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD NEUROMUSCULAR FORM

SOURCES: ORPHANET

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CONGENITAL NEUROMUSCULAR FORM


Alternate names

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CONGENITAL NEUROMUSCULAR FORM Is also known as glycogenosis type 4, congenital neuromuscular form, glycogenosis type iv, congenital neuromuscular form, glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form, gbe deficiency, congenital neuromuscular form, glycogen storage d


More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CONGENITAL NEUROMUSCULAR FORM

SOURCES: ORPHANET

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM


Alternate names

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM Is also known as gsd due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form, glycogenosis type iv, fatal perinatal neuromuscular form, tarui disease, glycogenosis type 4, fatal perinatal neuromuscular form, gsd vii, gbe deficiency, fatal perinatal neur

Description

Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder.

Most common symptoms of GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Flexion contracture


More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM

SOURCES: OMIM ORPHANET

GLYCOGEN STORAGE DISEASE IV; GSD4


Alternate names

GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease, brancher deficiency, gbe1 deficiency, amylopectinosis, gsd iv, glycogen branching enzyme deficiency, cirrhosis, familial, with deposition of abnormal glycogen, glycogenosis iv

Most common symptoms of GLYCOGEN STORAGE DISEASE IV; GSD4

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


More info about GLYCOGEN STORAGE DISEASE IV; GSD4

SOURCES: OMIM

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM


Alternate names

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form, gde deficiency, glycogen storage disease type iv, childhood combined hepatic and myopathic form, gsd type 4, childhood combined hepatic and myopathic form, glycogenosis due to glycogen branc

Description

Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

Most common symptoms of GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

SOURCES: ORPHANET OMIM

ADULT POLYGLUCOSAN BODY DISEASE


Alternate names

ADULT POLYGLUCOSAN BODY DISEASE Is also known as apbd, polyglucosan body disease, adult form

Description

Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.

Most common symptoms of ADULT POLYGLUCOSAN BODY DISEASE

  • Intellectual disability
  • Ataxia
  • Muscle weakness
  • Spasticity
  • Cognitive impairment


More info about ADULT POLYGLUCOSAN BODY DISEASE

SOURCES: OMIM ORPHANET MESH

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, PROGRESSIVE HEPATIC FORM


Alternate names

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, PROGRESSIVE HEPATIC FORM Is also known as glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form, glycogen storage disease type 4, progressive hepatic form, gsd type 4, progressive hepatic form, gsd due to glycogen branching enzyme deficiency, progressive hepatic form, gbe


More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, PROGRESSIVE HEPATIC FORM

SOURCES: ORPHANET

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, NON PROGRESSIVE HEPATIC FORM


Alternate names

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, NON PROGRESSIVE HEPATIC FORM Is also known as glycogenosis type iv, non progressive hepatic form, glycogen storage disease type 4, non progressive hepatic form, gsd type 4, non progressive hepatic form, glycogen storage disease type iv, non progressive hepatic form, gbe deficiency, non progressive hepati


More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, NON PROGRESSIVE HEPATIC FORM

SOURCES: ORPHANET

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, ADULT NEUROMUSCULAR FORM


Alternate names

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, ADULT NEUROMUSCULAR FORM Is also known as gbe deficiency, adult neuromuscular form, glycogen storage disease type iv, adult neuromuscular form, gsd type 4, adult neuromuscular form, glycogenosis type iv, adult neuromuscular form, gsd due to glycogen branching enzyme deficiency, adult neuromuscular fo


More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, ADULT NEUROMUSCULAR FORM

SOURCES: ORPHANET


Potential gene panels for GBE1 gene

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

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GBE1 Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the GBE1 gene.

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GBE1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the GBE1 gene.

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GBE1 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the GBE1 gene.

More info about this panel

GBE1 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the GBE1 gene.

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Non-immune Hydrops Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B

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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

GBE1 Mutation Analysis Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the GBE1 gene.

More info about this panel

Neuromuscular Disorders Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel Panel

United States.

By GeneDx Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel that also includes the following genes: BTD SPR TH MMACHC CYP27A1 GALC GBE1 GCH1 ABCD1 ARG1

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

GBE1-Related Disorders Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust

This panel specifically test the GBE1 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

Glycogen Storage Disease- Muscle Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Glycogen Storage Disease- Muscle that also includes the following genes: RBCK1 AGL ENO3 FBP2 GAA ALDOA GBE1 GYG1 GYS1 LDHA

More info about this panel

Glycogen Storage Disease- Heart Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Glycogen Storage Disease- Heart that also includes the following genes: RBCK1 AGL GBE1 GYG1 GYS1 PRKAG2

More info about this panel

Rhabdomyolysis Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Rhabdomyolysis that also includes the following genes: RYR1 SLC22A5 LPIN1 CAV3 RBCK1 CPT1B CPT2 ISCU AGL ENO3

More info about this panel

GBE1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the GBE1 gene.

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

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

Glycogen Storage Disease type IV (sequence analysis of GBE1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GBE1 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

Polyglucosan body disease, adult form (sequence analysis of GBE1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GBE1 gene.

More info about this panel

Polyglucosan body disease, adult form (sequence analysis of GBE1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GBE1 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

Glycogen Storage Disease Type IV via GBE1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the GBE1 gene.

More info about this panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11

More info about this panel

Comprehensive Neuromuscular Sequencing Panel Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1

More info about this panel

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel Panel

United States.

By PreventionGenetics PreventionGenetics Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel that also includes the following genes: RYR1 SLC22A5 SUCLA2 TAZ TWNK TK2 LPIN1 SLC25A20 RBCK1 COQ8A

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Neuropathy Panel

Germany.

By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST

More info about this panel

Newborn: Cardiomyopathy as presenting sign Panel

Germany.

By MGZ Medical Genetics Center Newborn: Cardiomyopathy as presenting sign that also includes the following genes: SCO2 SDHA SLC22A5 SLC25A3 TAZ TTN LPIN1 GFM1 SLC25A20 MTO1

More info about this panel

Heart Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Amyotrophic Lateral Sclerosis (ALS) and Phenocopies Panel

Germany.

By MGZ Medical Genetics Center Amyotrophic Lateral Sclerosis (ALS) and Phenocopies that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP UBQLN2 VAPB VCP CHCHD10 BSCL2 SLC52A3

More info about this panel

Mitochondrial Diseases Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12

More info about this panel

Newborn: “Floppy Infant “ Panel

Germany.

By MGZ Medical Genetics Center Newborn: “Floppy Infant “ that also includes the following genes: RYR1 BIN1 SCN4A TCAP TNNT1 TPM2 TPM3 TTN UBA1 ACTA1

More info about this panel

Mitochondrial Hepato(encephalo)pathy and Phenocopies Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Hepato(encephalo)pathy and Phenocopies that also includes the following genes: BCS1L SCO1 SUCLG1 TWNK TSFM GFM1 ABHD5 CPT1A TRMU DGUOK

More info about this panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Germany.

By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5

More info about this panel

Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel

Germany.

By MGZ Medical Genetics Center Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) that also includes the following genes: RYR1 SCN4A SGCA SGCB SGCD SGCG SLC22A5 STIM1 TCAP TIA1

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Glycogen storage disease type IV (GBE1 deficiency) Panel

Netherlands.

By VU University Medical Center Metabolic Unit, PX 1X 009

This panel specifically test the GBE1 gene.

More info about this panel

Metabolic myopathies panel Panel

Germany.

By Centogene AG - the Rare Disease Company Metabolic myopathies panel that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ABHD5 CPT2 PNPLA2 AGL ENO3 ETFA

More info about this panel

Andersen disease Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GBE1 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

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

Glycogen storage disease type IV Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GBE1 gene.

More info about this panel

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1

More info about this panel

Metabolic Myopathies Panel Panel

Germany.

By CeGaT GmbH Metabolic Myopathies Panel that also includes the following genes: SLC16A1 SLC22A5 TAZ LPIN1 SLC25A20 PUS1 RBCK1 RRM2B ABHD5 ACAD9

More info about this panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10

More info about this panel

Single gene testing GBE1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the GBE1 gene.

More info about this panel

Leukodystrophy / Leukoencephalopathy Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy / Leukoencephalopathy Panel that also includes the following genes: SCP2 AIMP1 SLC16A2 SLC17A5 SOX10 ACOX1 TREX1 TYROBP VPS11 SAMHD1

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

Metabolic Myopathy and Rhabdomyolysis Panel

Estonia.

By Asper Biogene Asper Biogene LLC Metabolic Myopathy and Rhabdomyolysis that also includes the following genes: RYR1 SCN4A SLC22A5 SUCLA2 TAZ TWNK TK2 LPIN1 SLC25A20 CAV3

More info about this panel

Glycogen storage disease type 4, GBE1 gene, sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the GBE1 gene.

More info about this panel

Glycogen storage disease IV Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the GBE1 gene.

More info about this panel

Polyglucosan body disease, adult form Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the GBE1 gene.

More info about this panel

GBE1 Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the GBE1 gene.

More info about this panel

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel

Glycogen storage disease IV Panel

Slovakia.

By MedGene

This panel specifically test the GBE1 gene.

More info about this panel

Polyglucosan body disease, adult form Panel

Slovakia.

By MedGene

This panel specifically test the GBE1 gene.

More info about this panel

Invitae Muscle Glycogen Storage Disease Panel Panel

United States.

By Invitae Invitae Muscle Glycogen Storage Disease Panel that also includes the following genes: RBCK1 ENO3 GAA ALDOA GBE1 GYG1 GYS1 LAMP2 LDHA PFKM

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

METABOLIC MYOPATHIES Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases METABOLIC MYOPATHIES that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ABHD5 CPT2 PNPLA2 AGL ENO3 ETFA

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- Muscle: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders- Muscle: Sequencing Panel that also includes the following genes: AGL ENO3 GAA GBE1 GYS1 LAMP2 PFKM PGAM2 PGM1 PHKB

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- Muscle: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Glycogen Storage Disorders- Muscle: Deletion/Duplication Panel that also includes the following genes: AGL ENO3 GAA GBE1 GYS1 LAMP2 PFKM PGAM2 PGM1 PHKB

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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

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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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GBE1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GBE1 gene.

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Cardiomyopathy Panel Panel

Finland.

By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB

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Spastic Paraplegia Panel Panel

Finland.

By Blueprint Genetics Spastic Paraplegia Panel that also includes the following genes: SACS SLC16A2 SLC25A15 KDM5C BTD SPG11 ATL1 SPAST SPG7 SPR

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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

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Arthrogryposes Panel Panel

Finland.

By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B

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Comprehensive Cardiology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA

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Amyotrophic Lateral Sclerosis Panel Panel

Finland.

By Blueprint Genetics Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SOD1 SPG11 ATL1 SPAST SQSTM1 TARDBP TUBA4A UBQLN2 VAPB VCP

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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

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Metabolic Myopathy and Rhabdomyolysis Panel Panel

Finland.

By Blueprint Genetics Metabolic Myopathy and Rhabdomyolysis Panel that also includes the following genes: RYR1 SCN4A SLC22A5 SUCLA2 TWNK TK2 LPIN1 SLC25A20 CAV3 RBCK1

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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

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Dilated Cardiomyopathy (DCM) Panel Panel

Finland.

By Blueprint Genetics Dilated Cardiomyopathy (DCM) Panel that also includes the following genes: SCN5A TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN

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Glycogen storage disease type 4 Panel

Spain.

By Bioarray

This panel specifically test the GBE1 gene.

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GLYCOGEN STORAGE DISEASE, TYPE 4 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the GBE1 gene.

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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

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Andersen Disease (Glycogen Storage Disease Type IV), Sequencing GBE1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GBE1 gene.

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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

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Congenital Myopathy , Panel Massive Sequencing (NGS) 26 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Myopathy , Panel Massive Sequencing (NGS) 26 Genes that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ABHD5 CPT2 PNPLA2 AGL ENO3 ETFA

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Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes Panel

Spain.

By Reference Laboratory Genetics Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes that also includes the following genes: RYR1 SCN1A SCN1B SCN2A SCN4A SCN8A SCN9A ST3GAL3 ST3GAL5 SPTAN1

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Glycogen Storage Disease Type IV: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the GBE1 gene.

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Glycogen Storage Disease Type IV: gene deletion/duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the GBE1 gene.

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