Polyglucosan Body Myopathy 2; Pgbm2

Description

Polyglucosan body myopathy-2 is an autosomal recessive disorder characterized by proximal muscle weakness of the lower limbs resulting in gait disturbances. Some patients also have involvement of the upper limbs and/or distal muscle weakness. The age at onset is highly variable, and the disorder is slowly progressive. Muscle biopsy shows accumulation of polyglucosan, which contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase (summary by Malfatti et al., 2014).For a discussion of genetic heterogeneity of PGBM, see PGBM1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Polyglucosan Body Myopathy 2; Pgbm2

  • Muscle weakness
  • Myopathy
  • Skeletal muscle atrophy
  • Proximal muscle weakness
  • Distal muscle weakness
  • Shoulder girdle muscle weakness
  • Limb-girdle muscle weakness

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Polyglucosan Body Myopathy 2; Pgbm2 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 %


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