Glycogen Storage Disease Xv; Gsd15

Description

Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.

Clinical Features

Top most frequent phenotypes and symptoms related to Glycogen Storage Disease Xv; Gsd15

  • Muscle weakness
  • Myopathy
  • Peripheral neuropathy
  • Cardiomyopathy
  • Arrhythmia
  • Respiratory distress
  • Peripheral axonal neuropathy
  • Tachycardia
  • Vertigo
  • Ventricular hypertrophy
And another 23 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available there are 1 published cases of Glycogen Storage Disease Xv; Gsd15 in Europe.


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Glycogen Storage Disease Xv; Gsd15 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Glycogen Storage Disease- Muscle.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

AGL, ALDOA, GAA, PGM1, LDHA, ENO3, GYS1, PHKA1, PGAM2, PFKM, PYGM, GBE1, PGK1, RBCK1, FBP2, PHKG1, GYG1
Specificity
6 %
Genes
100 %
Glycogen Storage Disease- Heart.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

AGL, GYS1, GBE1, PRKAG2, RBCK1, GYG1
Specificity
17 %
Genes
100 %
Rhabdomyolysis.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

AGL, ACADVL, ALDOA, GAA, CPT2, HADHA, PGM1, LDHA, ENO3, GYS1, HADHB, PHKA1, LPIN1, PGAM2, ISCU, PFKM, PYGM, GBE1, ETFB, ETFA , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Glycogen storage disease type XV (sequence analysis of GYG1 gene).

By CGC Genetics in Portugal.

GYG1
Specificity
100 %
Genes
100 %
Glycogen storage disease (NGS panel for 22 genes).

By CGC Genetics in Portugal.

AGL, ALDOA, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, PRKAG2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Glycogen storage disease type XV (deletion/duplication analysis of GYG1 gene).

By CGC Genetics in Portugal.

GYG1
Specificity
100 %
Genes
100 %
Glycogen storage disease type XV (deletion/duplication analysis of GYG1 gene).

By CGC Genetics in Portugal.

GYG1
Specificity
100 %
Genes
100 %
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AGL, ALDOA, ALDOB, PC, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PCK2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
GYG1-Related Disorders via GYG1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GYG1
Specificity
100 %
Genes
100 %
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

ACAD9, ACADM, ACADS, AGL, ACADVL, ALDOA, TWNK, GAA, AMACR, CPT2, OPA1, POLG, RRM2B, HADHA, OPA3, COQ9, PDSS2, PDSS1, PGM1, LDHA , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Metabolic myopathies panel.

By Centogene AG - the Rare Disease Company in Germany.

AGL, ACADVL, GAA, CPT2, PGM1, LDHA, ENO3, GYS1, PNPLA2, TAZ, PHKA1, ABHD5, LPIN1, PGAM2, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Glycogen storage disease XV.

By Centogene AG - the Rare Disease Company in Germany.

GYG1
Specificity
100 %
Genes
100 %
Metabolic Myopathies Panel.

By CeGaT GmbH in Germany.

ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, YARS2, GAA, SLC16A1, CPT2, RRM2B, HADHA, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PNPLA2, POLG2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Glycogen Storage Disease.

By Asper Biogene Asper Biogene LLC in Estonia.

AGL, ALDOA, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Metabolic Myopathy and Rhabdomyolysis.

By Asper Biogene Asper Biogene LLC in Estonia.

ACAD9, ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, CPT2, OPA1, POLG, RRM2B, HADHA, OPA3, PGM1, LDHA, ENO3, SUCLA2, GYS1, PNPLA2, POLG2 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Invitae Muscle Glycogen Storage Disease Panel.

By Invitae in United States.

ALDOA, GAA, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2, RBCK1, GYG1
Specificity
8 %
Genes
100 %
Invitae Comprehensive Glycogen Storage Disease Panel.

By Invitae in United States.

AGL, ALDOA, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
GLYCOGEN STORAGE DISEASE.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

AGL, ALDOA, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
METABOLIC MYOPATHIES.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

AGL, ACADVL, GAA, CPT2, PGM1, LDHA, ENO3, GYS1, PNPLA2, TAZ, PHKA1, ABHD5, LPIN1, PGAM2, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Arrhythmia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

DSP, CPT1A, SLC25A20, LMNA, CAV3, DES, TMEM43, KCNJ2, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, KCNE1, KCNQ1, CACNA1C, KCNJ8, SCN3B, KCNE3, CACNB2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
GYG1.

By Fulgent Genetics Fulgent Genetics in United States.

GYG1
Specificity
100 %
Genes
100 %
Glycogen Storage Disorder Panel.

By Blueprint Genetics in Finland.

AGL, ALDOA, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Metabolic Myopathy and Rhabdomyolysis Panel.

By Blueprint Genetics in Finland.

ACAD9, ACADL, ACADM, AGL, ACADVL, ALDOA, TWNK, GAA, CPT2, OPA1, POLG, RRM2B, HADHA, OPA3, PGM1, LDHA, ENO3, SUCLA2, COQ8A, GYS1 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel.

By Blueprint Genetics in Finland.

AGL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, GAA, HNF1A, SLC37A4, SLC16A1, GCK, ACSF3, PHKA2, HMGCL, PYGL, G6PC, PHKG2, PGM1, LDHA , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
GLYCOGEN STORAGE DISEASE, TYPE 15.

By Laboratorio de Genetica Clinica SL in Spain.

GYG1
Specificity
100 %
Genes
100 %
GLYCOGEN STORAGE: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

ALDOA, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2, GYG1
Specificity
6 %
Genes
100 %
Congenital Myopathy , Panel Massive Sequencing (NGS) 26 Genes.

By Reference Laboratory Genetics in Spain.

AGL, ACADVL, GAA, CPT2, PGM1, LDHA, ENO3, GYS1, PNPLA2, TAZ, PHKA1, ABHD5, LPIN1, PGAM2, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %

Alternate names

Glycogen Storage Disease Xv; Gsd15 Is also known as gsd xv, glycogenin deficiency, gyg1 deficiency;gsd type 15; gsd type xv; gsd with severe cardiomyopathy due to glycogenin deficiency; glycogen storage disease type 15; glycogen storage disease type xv; glycogenosis type 15; glycogenosis type xv; glycogenosis with severe cardiomyopathy due to glycogenin deficiency.



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