Reducing Body Myopathy, X-linked 1b, With Late Childhood Or Adult Onset; Rbmx1b

Description

Reducing-body myopathy (RBM) is a rare myopathy characterized pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase (MAG) in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium (NBT) in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. The clinical features of RBM are variable; a severe form has onset in infancy or early childhood and results in severe disability or early death (RBMX1A ), and a less severe form has onset in late childhood or adulthood (RBMX1B) (summary by Liewluck et al., 2007 and Shalaby et al., 2009).

Clinical Features

Top most frequent phenotypes and symptoms related to Reducing Body Myopathy, X-linked 1b, With Late Childhood Or Adult Onset; Rbmx1b

  • Scoliosis
  • Muscle weakness
  • Myopathy
  • Flexion contracture
  • Short neck
  • Respiratory insufficiency
  • Cardiomyopathy
  • Kyphosis
  • Hyporeflexia
  • Elevated serum creatine phosphokinase
And another 19 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Reducing Body Myopathy, X-linked 1b, With Late Childhood Or Adult Onset; Rbmx1b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Myofibrillar Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

CRYAB, TTN, DES, FLNC, MYOT, LDB3, BAG3, FHL1, SELENON
Specificity
12 %
Genes
100 %
Emery-Dreifuss Muscular Dystrophy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

LMNA, FHL1, SYNE1, TMEM43, SYNE2, EMD
Specificity
17 %
Genes
100 %
Muscular Dystrophy Advanced Evaluation.

By Athena Diagnostics Inc in United States.

TRIM32, CAVIN1, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, FHL1, CCDC78, SYNE1 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Congenital Muscular Dystrophy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

FKTN, POMGNT1, DNM2, LMNA, FKRP, FHL1, SELENON, POMT2, POMT1, TCAP, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Comprehensive Cardiac Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

TTR, AGL, ACADVL, GAA, DSP, CRYAB, RAF1, MTO1, TMEM70, TAZ, SLC22A5, ALMS1, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %
Neuromuscular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ATP7A, TWNK, GAA, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, CRYAB, VCP, AGK, CAVIN1, DPM3, SUCLA2, PNPLA2, REEP1, POLG2, TK2, DPM1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Comprehensive Neuromuscular Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Limb-Girdle Muscular Dystrophy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

GAA, GNE, TRIM32, VCP, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Neuromuscular Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

GAA, GNE, TRIM32, CRYAB, VCP, DPM3, DPM1, ALG2, CHAT, PYGM, GBE1, DPAGT1, DMD, HRAS, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
100 %
Emery-Dreifuss Muscular Dystrophy Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

LMNA, FHL1, SYNE1, TMEM43, SYNE2, EMD
Specificity
17 %
Genes
100 %
EMD-Related Emery-Dreifuss Muscular Dystrophy, X-Linked.

By Institute of Human Genetics Universitätsmedizin Greifswald in Germany.

FHL1, EMD
Specificity
50 %
Genes
100 %
X-linked myopathy with postural muscle atrophy.

By Institute of Human Genetics Universitätsmedizin Greifswald in Germany.

FHL1
Specificity
100 %
Genes
100 %
Cardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

TTR, DSP, CRYAB, TAZ, GLA, LMNA, CAV3, TTN, DES, MYH7, LDB3, BAG3, FHL1, MYBPC3, TMEM43, EMD, TCAP, SGCD, HCN4, SCN5A , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
FHL1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

FHL1
Specificity
100 %
Genes
100 %
FHL1-Related Myopathies - FHL1 Sequence Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

FHL1
Specificity
100 %
Genes
100 %
FHL1-Related Myopathies - FHL1 Known Point Mutation Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

FHL1
Specificity
100 %
Genes
100 %
X-linked Emery-Dreifuss muscular dystrophy type 6 (sequence analysis of FHL1 gene).

By CGC Genetics in Portugal.

FHL1
Specificity
100 %
Genes
100 %
Congenital muscular dystrophies (NGS panel for 31 genes).

By CGC Genetics in Portugal.

CAVIN1, DMD, FKTN, POMGNT1, DNM2, LMNA, PABPN1, FKRP, DYSF, TTN, ANO5, FHL1, SELENON, SYNE1, TMEM43, SYNE2, EMD, POMT2, POMT1, TCAP , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Congenital myopathy (NGS panel of 19 genes).

By CGC Genetics in Portugal.

NEB, DNM2, MYH7, FHL1, SELENON, RYR1, ACTA1, CCDC78, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, MYF6, MTMR14, MAMLD1
Specificity
6 %
Genes
100 %
Congenital myopathy (NGS panel of 19 genes).

By CGC Genetics in Portugal.

NEB, DNM2, MYH7, FHL1, SELENON, RYR1, ACTA1, CCDC78, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, MYF6, MTMR14, MAMLD1
Specificity
6 %
Genes
100 %
Distal Hereditary Myopathy Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

GNE, CRYAB, VCP, SQSTM1, CAV3, DYSF, TTN, KLHL9, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6, TCAP
Specificity
5 %
Genes
100 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HFE, TTR, GAA, COL3A1, ELN, EYA4, JAG1, DSP, SLC25A4, CRYAB, HADHA, RAF1, FBN1, GCKR, DNAJC19, SCO2, TAZ, COX15, CBS, ALMS1 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
100 %
Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TTR, GAA, RAF1, SCO2, GLA, KRAS, PTPN11, PRKAR1A, CAV3, TTN, MYH7, LDB3, BAG3, FHL1, MYBPC3, TCAP, MYO6, LAMP2, RYR2, ACTC1 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Pan Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TTR, GAA, EYA4, DSP, CRYAB, RAF1, SCO2, TAZ, ALMS1, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, MAP2K2 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
100 %
FHL1-Myopathies via FHL1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FHL1
Specificity
100 %
Genes
100 %
Comprehensive Neuromuscular Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

AGL, GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, ISCU, CHAT, PFKM, PYGM, GBE1, DPAGT1, DMD, CHRNE , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
Distal Myopathy NGS panel.

By Connective Tissue Gene Tests in United States.

GNE, CRYAB, VCP, SQSTM1, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6, TCAP
Specificity
5 %
Genes
100 %
Distal Myopathy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

GNE, CRYAB, VCP, SQSTM1, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6, TCAP
Specificity
5 %
Genes
100 %
Distal Myopathy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

GNE, CRYAB, VCP, SQSTM1, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6, TCAP
Specificity
5 %
Genes
100 %
Myofibrillar myopathy and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

CRYAB, DES, FLNC, MYOT, LDB3, BAG3, FHL1, ACTA1, DNAJB6, KY, PYROXD1
Specificity
10 %
Genes
100 %
Limb girdle muscular dystrophy Comprehensive panel.

By Connective Tissue Gene Tests in United States.

GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, FHL1, EMD, TRAPPC11 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Myofibrillar myopathy and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

CRYAB, DES, FLNC, MYOT, LDB3, BAG3, FHL1, ACTA1, DNAJB6, KY, PYROXD1
Specificity
10 %
Genes
100 %
Limb girdle muscular dystrophy Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, FHL1, EMD, TRAPPC11 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Limb girdle muscular dystrophy NGS panel.

By Connective Tissue Gene Tests in United States.

GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, FHL1, EMD, TRAPPC11 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Myofibrillar myopathy and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

CRYAB, DES, FLNC, MYOT, LDB3, BAG3, FHL1, ACTA1, DNAJB6, KY, PYROXD1
Specificity
10 %
Genes
100 %
Hypertrophic cardiomyopathy - different panels.

By Institute of Human Genetics Cologne University in Germany.

TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, DLD, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22, TSFM , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Histological Myofibrillar Myopathy.

By MGZ Medical Genetics Center in Germany.

GNE, CRYAB, VCP, LMNA, TTN, DES, FLNC, MYOT, LDB3, BAG3, FHL1, PLEC
Specificity
9 %
Genes
100 %
Muscular Dystrophy: X-linked.

By MGZ Medical Genetics Center in Germany.

DMD, FHL1, EMD
Specificity
34 %
Genes
100 %
Muscular Dystrophy: Emery-Dreifuss.

By MGZ Medical Genetics Center in Germany.

LMNA, FHL1, SYNE1, TMEM43, SYNE2, EMD
Specificity
17 %
Genes
100 %
Myopathy – Rigid Spine.

By MGZ Medical Genetics Center in Germany.

GAA, LMNA, FHL1, SELENON, RYR1, EMD, LAMA2, COL6A2, COL6A3, COL6A1
Specificity
10 %
Genes
100 %
FHL1.

By MGZ Medical Genetics Center in Germany.

FHL1
Specificity
100 %
Genes
100 %
Heart Diseases - panels.

By MGZ Medical Genetics Center in Germany.

TTR, AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, GAA, ELN, CPT2, GNE, JAG1, DSP, CRYAB, RAF1, VCP, FBN1, MTO1, AGK, TMEM70 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Emery-Dreifuss Muscular Dystrophy.

By MGZ Medical Genetics Center in Germany.

LMNA, FHL1, SYNE1, TMEM43, SYNE2, EMD
Specificity
17 %
Genes
100 %
X-Linked Mental Retardation.

By MGZ Medical Genetics Center in Germany.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, NDUFA1, SLC6A8 , (...)

View the complete list with 93 more genes
Specificity
1 %
Genes
100 %
Muscle Disease with Contractures and/or Rigid Spine.

By MGZ Medical Genetics Center in Germany.

GAA, NEB, CAPN3, RAPSN, DNM2, LMNA, FHL1, SELENON, RYR1, KLHL40, TPM3, ACTA1, KBTBD13, CFL2, TPM2, TNNT1, SYNE1, TMEM43, SYNE2, EMD , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Muscle Disease with Distal Myopathy.

By MGZ Medical Genetics Center in Germany.

AGL, GNE, CRYAB, VCP, PNPLA2, CHRNE, CAPN3, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Muscle Weakness (Myopathy, Muscular Dystrophy).

By MGZ Medical Genetics Center in Germany.

TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
100 %
Muscle Disease with FSHD Phenocopies.

By MGZ Medical Genetics Center in Germany.

VCP, SGCA, CAPN3, FHL1, SMCHD1
Specificity
20 %
Genes
100 %
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR).

By MGZ Medical Genetics Center in Germany.

ACADM, AGL, ACADVL, GAA, CPT2, GNE, TRIM32, POLG, RRM2B, CRYAB, HADHA, VCP, PNPLA2, TK2, HADHB, PUS1, ABHD5, LPIN1, ISCU, PYGM , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Cardiomyopathy panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

TTR, EYA4, DSP, CRYAB, TAZ, DMD, GLA, FKTN, LMNA, CAV3, DES, MYH7, FLNC, MYOT, LDB3, BAG3, FHL1, MYBPC3, TMEM43, EMD , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Myofibrillar myopathy panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

CRYAB, DES, FLNC, MYOT, LDB3, BAG3, FHL1
Specificity
15 %
Genes
100 %
Myofibrillar myopathy panel.

By Centogene AG - the Rare Disease Company in Germany.

CRYAB, DES, FLNC, MYOT, LDB3, BAG3, FHL1, DNAJB6
Specificity
13 %
Genes
100 %
Emery-Dreifuss muscular dystrophy type 6.

By Centogene AG - the Rare Disease Company in Germany.

FHL1
Specificity
100 %
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 %
Congenital and Distal Myopathies Panel.

By CeGaT GmbH in Germany.

YARS2, TWNK, OPA1, GNE, TRIM32, POLG, RRM2B, CRYAB, VCP, SUCLA2, POLG2, TK2, PUS1, ISCU, NEB, DNM2, PABPN1, CAV3, DYSF, TTN , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Muscular Dystrophies Panel.

By CeGaT GmbH in Germany.

CAVIN1, DPM1, DMD, FKTN, POMGNT1, LMNA, PABPN1, FKRP, DYSF, TTN, ANO5, FHL1, SELENON, SYNE1, TMEM43, SYNE2, EMD, POMT2, POMT1, TCAP , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Cardiomyopathy, hypertrophic Panel.

By CeGaT GmbH in Germany.

TTR, GLA, CAV3, TTN, MYH7, LDB3, FHL1, MYBPC3, TCAP, LAMP2, ACTC1, MYLK2, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, MYPN , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Congenital Myopathy and Distal Myopathy NGS panel.

By Asper Biogene Asper Biogene LLC in Estonia.

GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, SELENON , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %
Left Ventricular Non-Compactation Panel.

By Health in Code in Spain.

DSP, DNAJC19, TAZ, MLYCD, DMD, PTPN11, LMNA, TTN, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, KCNH2, HCN4, KCNQ1, NOTCH1, RYR2, CASQ2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Restrictive Cardiomyopathy Panel.

By Health in Code in Spain.

HFE, TTR, GLA, LMNA, TTN, DES, MYH7, FLNC, BAG3, FHL1, MYBPC3, ACTC1, TNNC1, TNNI3, MYPN, TPM1, TNNT2, ACTN2, MYL2, MYL3
Specificity
5 %
Genes
100 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
100 %
Skeletal Myopathy Panel.

By Health in Code in Spain.

AGL, GAA, DLD, SLC25A4, CRYAB, AGK, COQ2, TAZ, PHKA1, SURF1, SLC22A5, PMM2, DOLK, DMD, HRAS, FKTN, SGCA, SGCB, CAPN3, LMNA , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK , (...)

View the complete list with 121 more genes
Specificity
1 %
Genes
100 %
Cardiomyopathies Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP, DLD, SLC25A4, CRYAB, RAF1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Hypertrophic Cardiomyopathy Extended Panel.

By Health in Code in Spain.

TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
100 %
Non-compaction cardiomyopathy.

By Health in Code in Spain.

DSP, DNAJC19, TAZ, MLYCD, DMD, PTPN11, LMNA, TTN, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, KCNH2, HCN4, KCNQ1, NOTCH1, RYR2, CASQ2 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Skeletal myopathy Panel.

By Health in Code in Spain.

AGL, GAA, DLD, SLC25A4, CRYAB, AGK, CAVIN1, SLC25A3, COQ2, SCO2, TAZ, PHKA1, SURF1, FXN, SLC22A5, PMM2, SDHA, DOLK, DMD, HRAS , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Arrhythmia General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, FOXRED1, CRYAB , (...)

View the complete list with 198 more genes
Specificity
1 %
Genes
100 %
Hypertrophic cardiomyopathy extended panel.

By Health in Code in Spain.

TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1, MTO1, MRPL3, LIAS , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Resctrictive cardiomyopathy.

By Health in Code in Spain.

HFE, TTR, GLA, LMNA, TTN, DES, MYH7, FLNC, BAG3, FHL1, MYBPC3, ACTC1, TNNC1, TNNI3, MYPN, TPM1, TNNT2, ACTN2, MYL2, MYL3
Specificity
5 %
Genes
100 %
Cardiomyopathies General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1 , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel.

By Invitae in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
100 %
Invitae Cardiomyopathy Comprehensive Panel.

By Invitae in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Invitae Comprehensive Neuromuscular Disorders Panel.

By Invitae in United States.

GAA, CPT2, GNE, TRIM32, CRYAB, VCP, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, TAZ, CHAT, DPAGT1, DMD, SMN1, CHRNE, DOK7, FKTN, NEB , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Invitae Myofibrillar Myopathy Panel.

By Invitae in United States.

CRYAB, DES, FLNC, MYOT, LDB3, BAG3, FHL1, DNAJB6
Specificity
13 %
Genes
100 %
Invitae Comprehensive Muscular Dystrophy Panel.

By Invitae in United States.

GAA, TRIM32, DPM3, PNPLA2, DPM1, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Invitae Distal Myopathy Panel.

By Invitae in United States.

GNE, CRYAB, VCP, SQSTM1, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, DNAJB6
Specificity
6 %
Genes
100 %
Invitae Emery-Dreifuss Muscular Dystrophy Panel.

By Invitae in United States.

LMNA, FHL1, EMD
Specificity
34 %
Genes
100 %
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel.

By Invitae in United States.

TTR, AGL, GAA, EYA4, CPT2, GNE, TRIM32, DSP, CRYAB, RAF1, VCP, DPM3, PNPLA2, DPM1, SQSTM1, TAZ, SLC22A5, DOLK, DMD, GLA , (...)

View the complete list with 93 more genes
Specificity
1 %
Genes
100 %
Invitae Comprehensive Myopathy Panel.

By Invitae in United States.

CPT2, GNE, CRYAB, VCP, SQSTM1, NEB, DNM2, LMNA, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Invitae Hypertrophic Cardiomyopathy Panel.

By Invitae in United States.

TTR, AGL, GAA, GLA, CAV3, DES, MYH7, FLNC, BAG3, FHL1, MYBPC3, TCAP, CACNA1C, LAMP2, ACTC1, TNNC1, TNNI3, PRKAG2, PLN, TPM1 , (...)

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

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

TRIM32, CRYAB, LMNA, TTN, DES, MYH7, FLNC, MYOT, LDB3, BAG3, FHL1, TPM3, DNAJB6
Specificity
8 %
Genes
100 %
Expanded Neuromuscular Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, VCP, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Expanded Neuromuscular Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Muscular Dystrophies NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TRIM32, CAVIN1, DPM3, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, FHL1, SYNE1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Distal Hereditary Myopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

GNE, CRYAB, VCP, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, LDB3, MATR3, FHL1, TCAP
Specificity
8 %
Genes
100 %
Myofibrillar Myopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CRYAB, DES, FLNC, MYOT, LDB3, BAG3, FHL1, DNAJB6
Specificity
13 %
Genes
100 %
FHL1.

By Fulgent Genetics Fulgent Genetics in United States.

FHL1
Specificity
100 %
Genes
100 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)

View the complete list with 140 more genes
Specificity
1 %
Genes
100 %
Cardiomyopathy Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 135 more genes
Specificity
1 %
Genes
100 %
Emery-Dreifuss Muscular Dystrophy Panel.

By Blueprint Genetics in Finland.

DMD, LMNA, TTN, FHL1, TMEM43, EMD
Specificity
17 %
Genes
100 %
Comprehensive Muscular Dystrophy / Myopathy Panel.

By Blueprint Genetics in Finland.

GAA, TRIM32, POLG, CRYAB, PNPLA2, SEPT9, DMD, FKTN, NEB, SGCA, SGCB, SGCG, CAPN3, LMNA, PABPN1, FKRP, CAV3, DYSF, TTN, DES , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Arthrogryposes Panel.

By Blueprint Genetics in Finland.

FKBP10, RARS2, TK2, PLOD2, SCO2, CHAT, GBE1, PMM2, DPAGT1, GBA, CHRNE, DOK7, FKTN, NEB, RAPSN, TRPV4, MPZ, EGR2, FHL1, SELENON , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Comprehensive Cardiology Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 165 more genes
Specificity
1 %
Genes
100 %
Hypertrophic Cardiomyopathy (HCM) Panel.

By Blueprint Genetics in Finland.

TTR, ACAD9, AGL, ACADVL, GAA, ELAC2, SLC25A4, NDUFAF2, RAF1, AGK, COX15, FXN, BRAF, GLA, HRAS, SOS1, CBL, MYH7, FLNC, BAG3 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Genetic Study of Hypertrophic Cardiomyopathy Panel (2 panels: 57 genes or 18 genes).

By HeartGenetics, Genetics and Biotechnology, SA in Portugal.

CRYAB, BRAF, MYH7, FLNC, LDB3, FHL1, MYBPC3, TCAP, LAMP2, ACTC1, TNNC1, TNNI3, TPM1, TNNT2, CSRP3, MYL2, MYL3
Specificity
6 %
Genes
100 %
X-linked Emery-Dreifuss muscular dystrophy type 6.

By Bioarray in Spain.

FHL1
Specificity
100 %
Genes
100 %
CardioGene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

TTR, DSP, RAF1, TAZ, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, LMNA, CAV3, TTN, DES, MYH7 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
100 %
Cardiomyopathy Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

TTR, DSP, RAF1, TAZ, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, LMNA, TTN, DES, MYH7, LDB3 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Dilated Cardiomyopathy Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

TAZ, LMNA, TTN, DES, MYH7, LDB3, BAG3, FHL1, MYBPC3, EMD, TCAP, SGCD, SCN5A, LAMP2, ABCC9, ACTC1, ANKRD1, TNNC1, TNNI3, MYH6 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
MUSCULAR DYSTROPHY, EMERY-DREYFUSS, TYPE 1 (X- LINKED ).

By Laboratorio de Genetica Clinica SL in Spain.

FHL1, EMD
Specificity
50 %
Genes
100 %
Myofibrillar Myopathy, Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

CRYAB, DES, FLNC, MYOT, LDB3, BAG3, FHL1, DNAJB6
Specificity
13 %
Genes
100 %
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes.

By Reference Laboratory Genetics in Spain.

GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, PHKA1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, PEX2, PEX7 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
100 %
Emery-Dreifuss Muscular Dystrophy , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

LMNA, FHL1, SYNE1, TMEM43, SYNE2, EMD
Specificity
17 %
Genes
100 %
Phosphorus Pan Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, DMD, GLA , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pan Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1 , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, LMNA, FKRP, CAV3, TTN, DES, MYH7, FLNC , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, EYA4, DSP, CRYAB, RAF1, TAZ, SLC22A5, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1 , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, BRAF, DMD , (...)

View the complete list with 75 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, BRAF, DMD , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, EYA4, CPT2, DSP, CRYAB, RAF1, MTO1, TMEM70, DNAJC19, TAZ, SLC22A5, ALMS1, SDHA, DOLK, DMD, GLA , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, CPT2, RAF1, MTO1, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Phosphorus Hypertrophic Cardiomyopathy Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, GLA, CAV3, DES, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, TCAP, CACNA1C, LAMP2, ACTC1, TNNC1, TNNI3, PRKAG2, PLN , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, GAA, RAF1, BRAF, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, CAV3, NF1, DES , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Phosphorus Hypertrophic Cardiomyopathy Including Recessive Pediatric Syndromes Panel.

By Phosphorus Diagnostics LLC in United States.

TTR, AGL, ACADVL, GAA, ELAC2, CPT2, MTO1, GLA, CAV3, DES, MYH7, FLNC, LDB3, BAG3, FHL1, MYBPC3, TCAP, CACNA1C, LAMP2, ACTC1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %

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