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.
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
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
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
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
Search interest in GBE1
Potential gene panels for GBE1 gene
MitoMet®Plus aCGH Analysis Panel
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 panelGBE1 Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the GBE1 gene.
More info about this panelGBE1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the GBE1 gene.
More info about this panelGBE1 Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the GBE1 gene.
More info about this panelGBE1 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the GBE1 gene.
More info about this panelNon-immune Hydrops Panel Panel
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
More info about this panelComprehensive Mitochondrial Metabolic Panel Panel
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 panelGBE1 Mutation Analysis Panel
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the GBE1 gene.
More info about this panelNeuromuscular Disorders Sequencing Panel Panel
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 panelAtaxia Exome Panel Panel
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 panelHereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel Panel
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 panelGlycogen Storage Disease and Gluconeogenesis Sequencing Panel Panel
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 panelGBE1-Related Disorders Panel
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the GBE1 gene.
More info about this panelGlycogen Storage Disease- Liver Panel
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 panelGlycogen Storage Disease- Muscle Panel
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 panelGlycogen Storage Disease- Heart Panel
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 panelRhabdomyolysis Panel
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 panelGBE1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GBE1 gene.
More info about this panelGlycogen Storage Disease Del/Dup Panel Panel
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 panelGlycogen Storage Disease Seq + Del/Dup Panel Panel
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 panelGlycogen Storage Disease Seq Analysis Panel
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 panelGlycogen Storage Disease type IV (sequence analysis of GBE1 gene) Panel
By CGC Genetics
This panel specifically test the GBE1 gene.
More info about this panelGlycogen storage disease (NGS panel for 13 genes) Panel
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 panelGlycogen storage disease (NGS panel for 22 genes) Panel
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 panelPolyglucosan body disease, adult form (sequence analysis of GBE1 gene) Panel
By CGC Genetics
This panel specifically test the GBE1 gene.
More info about this panelPolyglucosan body disease, adult form (sequence analysis of GBE1 gene) Panel
By CGC Genetics
This panel specifically test the GBE1 gene.
More info about this panelGlycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection Panel
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 panelGlycogen Storage Disease Type IV via GBE1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the GBE1 gene.
More info about this panelLeukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel
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 panelComprehensive Neuromuscular Sequencing Panel Panel
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 panelMetabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel Panel
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
More info about this panelNeuropathy Panel
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 panelNewborn: Cardiomyopathy as presenting sign Panel
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 panelHeart Diseases - panels Panel
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 panelNeurogenetic Disorders - panels Panel
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 panelMental Retardation and Dysmorphology - panels Panel
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 panelSyndromal Diseases - panels Panel
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 panelAmyotrophic Lateral Sclerosis (ALS) and Phenocopies Panel
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 panelMitochondrial Diseases Panel
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 panelNewborn: “Floppy Infant “ Panel
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 panelMitochondrial Hepato(encephalo)pathy and Phenocopies Panel
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 panelMuscle Weakness (Myopathy, Muscular Dystrophy) Panel
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 panelMuscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel
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
More info about this panelGlycogen storage disease type IV (GBE1 deficiency) Panel
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the GBE1 gene.
More info about this panelMetabolic myopathies panel Panel
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 panelAndersen disease Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the GBE1 gene.
More info about this panelAllNeuro panel Panel
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 panelCentoICU platinum plus Panel
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 panelNew Born testing (CentoICU) Panel
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 panelGlycogen storage disease type IV Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the GBE1 gene.
More info about this panelHereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
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 panelMetabolic Myopathies Panel Panel
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 panelLeukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
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 panelSingle gene testing GBE1 Panel
By CeGaT GmbH
This panel specifically test the GBE1 gene.
More info about this panelLeukodystrophy / Leukoencephalopathy Panel Panel
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 panelGlycogen Storage Disease Panel
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 panelMetabolic Myopathy and Rhabdomyolysis Panel
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 panelGlycogen storage disease type 4, GBE1 gene, sequencing Panel
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the GBE1 gene.
More info about this panelGlycogen storage disease IV Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the GBE1 gene.
More info about this panelPolyglucosan body disease, adult form Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the GBE1 gene.
More info about this panelGBE1 Panel
By Division Human Genetics Medical University Innsbruck
This panel specifically test the GBE1 gene.
More info about this panelqCarrier Plus Panel
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 panelGlycogen storage disease IV Panel
By MedGene
This panel specifically test the GBE1 gene.
More info about this panelPolyglucosan body disease, adult form Panel
By MedGene
This panel specifically test the GBE1 gene.
More info about this panelInvitae Muscle Glycogen Storage Disease Panel Panel
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 panelInvitae Liver Glycogen Storage Disease Panel Panel
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 panelInvitae Comprehensive Glycogen Storage Disease Panel Panel
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 panelGLYCOGEN STORAGE DISEASE Panel
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 panelMETABOLIC MYOPATHIES Panel
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 panelGlycogen Storage Disorders- Liver: Sequencing Panel Panel
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 panelGlycogen Storage Disorders- Muscle: Sequencing Panel Panel
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 panelGlycogen Storage Disorders: Comprehensive Sequencing Panel Panel
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 panelInherited Metabolic Disorders: Sequencing Panel Panel
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 panelGlycogen Storage Disorders- Liver: Deletion/Duplication Panel Panel
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 panelGlycogen Storage Disorders- Muscle: Deletion/Duplication Panel Panel
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
More info about this panelGlycogen Storage Disorders: Deletion/Duplication Panel Panel
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 panelIntellectual Disability NGS Panel Panel
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 panelGBE1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GBE1 gene.
More info about this panelCardiomyopathy Panel Panel
By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB
More info about this panelSpastic Paraplegia Panel Panel
By Blueprint Genetics Spastic Paraplegia Panel that also includes the following genes: SACS SLC16A2 SLC25A15 KDM5C BTD SPG11 ATL1 SPAST SPG7 SPR
More info about this panelGlycogen Storage Disorder Panel Panel
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 panelArthrogryposes Panel Panel
By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B
More info about this panelComprehensive Cardiology Panel Panel
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panelAmyotrophic Lateral Sclerosis Panel Panel
By Blueprint Genetics Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SOD1 SPG11 ATL1 SPAST SQSTM1 TARDBP TUBA4A UBQLN2 VAPB VCP
More info about this panelComprehensive Metabolism Panel Panel
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 panelMetabolic Myopathy and Rhabdomyolysis Panel Panel
By Blueprint Genetics Metabolic Myopathy and Rhabdomyolysis Panel that also includes the following genes: RYR1 SCN4A SLC22A5 SUCLA2 TWNK TK2 LPIN1 SLC25A20 CAV3 RBCK1
More info about this panelHypoglycemia, Hyperinsulinism and Ketone Metabolism Panel Panel
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 panelDilated Cardiomyopathy (DCM) Panel Panel
By Blueprint Genetics Dilated Cardiomyopathy (DCM) Panel that also includes the following genes: SCN5A TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN
More info about this panelGlycogen storage disease type 4 Panel
By Bioarray
This panel specifically test the GBE1 gene.
More info about this panelGLYCOGEN STORAGE DISEASE, TYPE 4 Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the GBE1 gene.
More info about this panelGLYCOGEN STORAGE: NGS PANEL Panel
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 panelAndersen Disease (Glycogen Storage Disease Type IV), Sequencing GBE1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the GBE1 gene.
More info about this panelGlycogen Storage Disease, Panel Massive Sequencing (NGS) 11 Genes Panel
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 panelCongenital Myopathy , Panel Massive Sequencing (NGS) 26 Genes Panel
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
More info about this panelNeuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes Panel
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
More info about this panelGlycogen Storage Disease Type IV: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GBE1 gene.
More info about this panelGlycogen Storage Disease Type IV: gene deletion/duplication Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GBE1 gene.
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