Inclusion Body Myopathy With Early-onset Paget Disease With Or Without Frontotemporal Dementia 1; Ibmpfd1

Description

IBMPFD is an autosomal dominant disorder characterized by incomplete penetrance of 3 main features: disabling muscle weakness (in 90%), osteolytic bone lesions consistent with Paget disease (in 51%), and frontotemporal dementia (in 32%). Muscle weakness is an isolated symptom in about 30% of patients and the presenting symptom in greater than half of patients, suggesting that IBMPFD may commonly be seen in a neuromuscular clinic without its other syndromic features (review by Weihl et al., 2009). Genetic Heterogeneity of IBMPFD/MSPIBMPFD2 (MSP2 ) is caused by mutation in the HNRNPA2B1 gene (OMIM ) on chromosome 7p15. IBMPFD3 (MSP3 ) is caused by mutation in the HNRNPA1 gene (OMIM ) on chromosome 12q13.Bucelli et al. (2015) suggested use of the designation MSP4 to include disparate phenotypes in muscle, brain, spinal cord, and bone caused by mutation in the SQSTM1 gene (OMIM ); see {617158}.

Clinical Features

Top most frequent phenotypes and symptoms related to Inclusion Body Myopathy With Early-onset Paget Disease With Or Without Frontotemporal Dementia 1; Ibmpfd1

  • Intellectual disability
  • Short stature
  • Pica
  • Cataract
  • Muscle weakness
  • Myopathy
  • Skeletal muscle atrophy
  • Tics
  • Ventriculomegaly
  • Gait disturbance
And another 75 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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Inclusion Body Myopathy With Early-onset Paget Disease With Or Without Frontotemporal Dementia 1; Ibmpfd1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Frontotemporal dementia (NGS panel for 13 genes).

By CGC Genetics in Portugal.

PSEN1, VCP, GRN, MAPT, FUS, CHMP2B, TARDBP, UBQLN2, CSF1R, CHCHD10, HNRNPA2B1, HNRNPA1, TUBA4A
Specificity
24 %
Genes
100 %
Frontotemporal dementia (sequence analysis of HNRNPA2B1 gene).

By CGC Genetics in Portugal.

HNRNPA2B1
Specificity
100 %
Genes
34 %
Hereditary dementias (NGS panel for 28 genes).

By CGC Genetics in Portugal.

TYROBP, APP, PSEN1, VCP, GRN, TIMM8A, SNCB, PSEN2, MAPT, APOE, NOTCH3, SNCA, FUS, CHMP2B, TARDBP, UBQLN2, ATP13A2, DNMT1, CSF1R, TREM2 , (...)

View the complete list with 8 more genes
Specificity
11 %
Genes
100 %
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PSEN1, OPTN, VCP, GRN, SQSTM1, SOD1, PSEN2, MAPT, C9orf72, KIF5A, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, TREM2 , (...)

View the complete list with 5 more genes
Specificity
12 %
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
3 %
Genes
100 %
Amyotrophic lateral sclerosis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

OPTN, VCP, SQSTM1, SOD1, FIG4, SPG11, MATR3, ALS2, SIGMAR1, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, CHCHD10, HNRNPA2B1 , (...)

View the complete list with 4 more genes
Specificity
13 %
Genes
100 %
Amyotrophic lateral sclerosis and related disorders Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

OPTN, VCP, SQSTM1, SOD1, FIG4, SPG11, MATR3, ALS2, SIGMAR1, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, CHCHD10, HNRNPA2B1 , (...)

View the complete list with 4 more genes
Specificity
13 %
Genes
100 %
Amyotrophic lateral sclerosis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

OPTN, VCP, SQSTM1, SOD1, FIG4, SPG11, MATR3, ALS2, SIGMAR1, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, CHCHD10, HNRNPA2B1 , (...)

View the complete list with 4 more genes
Specificity
13 %
Genes
100 %
Paget disease of bone and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

TNFRSF11A, VCP, SQSTM1, TNFRSF11B, HNRNPA2B1, HNRNPA1, ZNF687
Specificity
43 %
Genes
100 %
Paget disease of bone and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

TNFRSF11A, VCP, SQSTM1, TNFRSF11B, HNRNPA2B1, HNRNPA1, ZNF687
Specificity
43 %
Genes
100 %
Paget disease of bone and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

TNFRSF11A, VCP, SQSTM1, TNFRSF11B, HNRNPA2B1, HNRNPA1, ZNF687
Specificity
43 %
Genes
100 %
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel.

By CeGaT GmbH in Germany.

MTHFR, ABHD12, ARG1, ATP7A, AUH, C12orf65, PSEN1, OPTN, OPA1, GLB1, ELOVL4, HSPD1, GARS, AFG3L2, PANK2, OPA3, VCP, ALDH18A1, MTPAP, SPR , (...)

View the complete list with 123 more genes
Specificity
3 %
Genes
100 %
Amyotrophic Lateral Sclerosis (ALS) Panel.

By CeGaT GmbH in Germany.

HFE, OPTN, VCP, GRN, PARK7, SQSTM1, SOD1, NEFH, ATXN1, FIG4, SPG11, MAPT, C9orf72, ATXN2, MATR3, SPART, ALS2, SIGMAR1, FUS, SETX , (...)

View the complete list with 34 more genes
Specificity
6 %
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
5 %
Genes
100 %
Frontotemporal Dementia (FTD) Panel.

By CeGaT GmbH in Germany.

PSEN1, OPTN, VCP, GRN, SQSTM1, PSEN2, MAPT, C9orf72, NOTCH3, ATXN2, MATR3, SIGMAR1, FUS, DCTN1, CHMP2B, TARDBP, UBQLN2, TBK1, CSF1R, TREM2 , (...)

View the complete list with 8 more genes
Specificity
11 %
Genes
100 %
Dementia all Panel.

By CeGaT GmbH in Germany.

APP, PSEN1, OPTN, VCP, GRN, SQSTM1, PSEN2, MAPT, APOE, C9orf72, NOTCH3, ATXN2, TBP, MATR3, SIGMAR1, FUS, DCTN1, CHMP2B, TARDBP, UBQLN2 , (...)

View the complete list with 16 more genes
Specificity
9 %
Genes
100 %
NGS panel - dementia.

By Genome Diagnostics VU University Medical Center in Netherlands.

TYROBP, APP, PSEN1, OPTN, VCP, GRN, SQSTM1, SNCB, SOD1, NEFH, FIG4, PSEN2, MAPT, NOTCH3, SNCA, ALS2, SIGMAR1, FUS, SETX, CHMP2B , (...)

View the complete list with 21 more genes
Specificity
8 %
Genes
100 %
HNRNPA2B1.

By Fulgent Genetics Fulgent Genetics in United States.

HNRNPA2B1
Specificity
100 %
Genes
34 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
34 %
Frontotemporal dementia (sequence analysis of HNRNPA1 gene).

By CGC Genetics in Portugal.

HNRNPA1
Specificity
100 %
Genes
34 %
Amyotrophic lateral sclerosis (ALS) via the hnRNPA1 Gene.

By PreventionGenetics PreventionGenetics in United States.

HNRNPA1
Specificity
100 %
Genes
34 %
Amyotrophic Lateral Sclerosis NGS Panel + C9orf72 Repeat Expansion.

By MNG Laboratories (Medical Neurogenetics, LLC.) in United States.

PSEN1, OPTN, VCP, PARK7, SQSTM1, SOD1, FIG4, SPG11, MAPT, C9orf72, MATR3, ALS2, SIGMAR1, FUS, SETX, TARDBP, ANG, VAPB, PFN1, UBQLN2 , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
67 %
Amyotrophic Lateral Sclerosis NGS Panel.

By MNG Laboratories (Medical Neurogenetics, LLC.) in United States.

PSEN1, OPTN, VCP, PARK7, SQSTM1, SOD1, FIG4, SPG11, MAPT, MATR3, ALS2, SIGMAR1, FUS, SETX, TARDBP, ANG, VAPB, PFN1, UBQLN2, HNRNPA1 , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
67 %
Amyotrophic lateral sclerosis.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

OPTN, GRN, SQSTM1, SOD1, NEFH, FIG4, C9orf72, MATR3, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, TBK1, CHCHD10 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
34 %
HNRNPA1.

By Fulgent Genetics Fulgent Genetics in United States.

HNRNPA1
Specificity
100 %
Genes
34 %
Amyotrophic Lateral Sclerosis Panel.

By Blueprint Genetics in Finland.

OPTN, HSPD1, VCP, REEP1, GRN, SQSTM1, HEXA, GBE1, SOD1, PRF1, FIG4, ATL1, SPG11, SPAST, KIF5A, BSCL2, WASHC5, SPART, ALS2, FUS , (...)

View the complete list with 12 more genes
Specificity
7 %
Genes
67 %
AMYOTROPHIC LATERAL SCLEROSIS: ALS NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

OPTN, VCP, SQSTM1, SOD1, NEFH, FIG4, SPG11, MATR3, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, CHCHD10 , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
67 %
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
34 %
Distal Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

GNE, CRYAB, VCP, NEB, DNM2, CAV3, DYSF, TTN, KLHL9, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3
Specificity
6 %
Genes
34 %
Amyotrophic Lateral Sclerosis Advanced Evaluation.

By Athena Diagnostics Inc in United States.

OPTN, VCP, SQSTM1, SOD1, FIG4, C9orf72, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2
Specificity
6 %
Genes
34 %
Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

OPTN, VCP, SQSTM1, FIG4, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2
Specificity
7 %
Genes
34 %
Charcot-Marie-Tooth Hereditary Neuropathy Panel.

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

GARS, KIF1B, MFN2, VCP, HARS, KARS, AIFM1, SURF1, NEFH, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
34 %
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
34 %
Amyotrophic Lateral Sclerosis.

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

OPTN, PRPH2, VCP, SOD1, NEFH, FIG4, C9orf72, ATXN2, SPART, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
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
34 %
Dementia.

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

APP, PSEN1, OPTN, VCP, GRN, FIG4, PSEN2, MAPT, APOE, C9orf72, ALS2, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, CSF1R, TREM2, PRNP , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
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
34 %
VCP sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

VCP
Specificity
100 %
Genes
34 %
VCP Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

VCP
Specificity
100 %
Genes
34 %
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
34 %
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia.

By Human Genetics Ruhr University in Germany.

VCP
Specificity
100 %
Genes
34 %
Body myopathy with Paget disease and frontotemporal dementia (sequence analysis of VCP gene).

By CGC Genetics in Portugal.

VCP
Specificity
100 %
Genes
34 %
Amyotrophic lateral sclerosis 14 (sequence analysis of VCP gene).

By CGC Genetics in Portugal.

VCP
Specificity
100 %
Genes
34 %
Body myopathy with Paget disease and frontotemporal dementia (deletion/duplication analysis of VCP gene).

By CGC Genetics in Portugal.

VCP
Specificity
100 %
Genes
34 %
Body myopathy with Paget disease and frontotemporal dementia (deletion/duplication analysis of VCP gene).

By CGC Genetics in Portugal.

VCP
Specificity
100 %
Genes
34 %
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
34 %
Valosin-Containing Protein-Related Disorders via the VCP Gene.

By PreventionGenetics PreventionGenetics in United States.

VCP
Specificity
100 %
Genes
34 %
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel.

By PreventionGenetics PreventionGenetics in United States.

GAA, TRIM32, VCP, PNPLA2, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
34 %
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

C12orf65, VCP, ALDH18A1, REEP1, SPG7, GAD1, ABCD1, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, PNPLA6 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
34 %
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

C12orf65, HSPD1, VCP, ALDH18A1, REEP1, SPG7, GAD1, ABCD1, FARS2, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
34 %
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
34 %
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
34 %
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
34 %
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
34 %
Neuropathy.

By MGZ Medical Genetics Center in Germany.

TTR, ABHD12, ATP7A, C12orf65, GAA, FBLN5, OPTN, AMACR, POLG, GARS, MFN2, HADHA, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, SQSTM1 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
34 %
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
34 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
34 %
Amyotrophic Lateral Sclerosis (ALS) and Phenocopies.

By MGZ Medical Genetics Center in Germany.

OPTN, VCP, REEP1, SQSTM1, HEXA, GBE1, SOD1, FIG4, SPG11, MATR3, BSCL2, ALS2, FUS, SETX, DCTN1, TARDBP, ANG, VAPB, UBQLN2, BICD2 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
34 %
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
34 %
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
34 %
Muscle Disease with FSHD Phenocopies.

By MGZ Medical Genetics Center in Germany.

VCP, SGCA, CAPN3, FHL1, SMCHD1
Specificity
20 %
Genes
34 %
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
34 %
VCP.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

VCP
Specificity
100 %
Genes
34 %
FTD - ALS panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

VCP, SMPD1, GRN, SOD1, NPC1, NPC2, FIG4, MAPT, ALS2, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB
Specificity
7 %
Genes
34 %
Amyotrophic lateral sclerosis type 14.

By Centogene AG - the Rare Disease Company in Germany.

VCP
Specificity
100 %
Genes
34 %
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
34 %
ALS panel.

By Centogene AG - the Rare Disease Company in Germany.

OPTN, PRPH2, VCP, SOD1, NEFH, FIG4, C9orf72, ATXN2, SPART, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
34 %
Single gene testing VCP.

By CeGaT GmbH in Germany.

VCP
Specificity
100 %
Genes
34 %
VCP - Gene sequencing.

By Clinical Genetics Academic Medical Center in Netherlands.

VCP
Specificity
100 %
Genes
34 %
Charcot-Marie-Tooth Disease.

By Asper Biogene Asper Biogene LLC in Estonia.

C12orf65, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, TYMP, AIFM1, SURF1, NAGLU, HK1, ARSA, NDRG1, SBF2, PRX, FIG4 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
34 %
Amyotrophic Lateral Sclerosis.

By Asper Biogene Asper Biogene LLC in Estonia.

OPTN, VCP, SQSTM1, SOD1, FIG4, SPG11, MATR3, SPART, ALS2, SIGMAR1, FUS, SETX, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TBK1, CHCHD10 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
34 %
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
34 %
Test for VCP-Related Frontotemporal Dementia.

By Secugen SL in Spain.

VCP
Specificity
100 %
Genes
34 %
Amyotrophic lateral sclerosis 14.

By Praxis fuer Humangenetik Wien in Austria.

VCP
Specificity
100 %
Genes
34 %
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia.

By Praxis fuer Humangenetik Wien in Austria.

VCP
Specificity
100 %
Genes
34 %
Amyotrophic lateral sclerosis 14.

By MedGene in Slovakia.

VCP
Specificity
100 %
Genes
34 %
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia.

By MedGene in Slovakia.

VCP
Specificity
100 %
Genes
34 %
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
34 %
Invitae Inclusion Body Myopathy Panel.

By Invitae in United States.

GNE, VCP, TTN, MYH2
Specificity
25 %
Genes
34 %
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
34 %
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
34 %
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
34 %
Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel.

By Invitae in United States.

APP, PSEN1, OPTN, VCP, GRN, SOD1, SPG11, PSEN2, MAPT, SNCA, ALS2, FUS, DCTN1, TARDBP, VAPB, PFN1, UBQLN2, TFG, TBK1, PRNP , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
Invitae Frontotemporal Dementia Panel.

By Invitae in United States.

VCP, GRN, MAPT, FUS, DCTN1, TARDBP, UBQLN2, TBK1, CHCHD10
Specificity
12 %
Genes
34 %
AMYOTROPHIC LATERAL SCLEROSIS A.D. & A.R..

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

OPTN, VCP, SOD1, FIG4, SPART, ALS2, FUS, SETX, TARDBP, ANG, VAPB
Specificity
10 %
Genes
34 %
Frontotemporal dementia.

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

VCP, GRN, MAPT, SIGMAR1, FUS, CHMP2B, TARDBP, UBQLN2
Specificity
13 %
Genes
34 %
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
34 %
Amyotrophic Lateral Sclerosis NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ABHD12, OPTN, VCP, ACAD8, ABCD1, SOD1, FIG4, C9orf72, ATXN2, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
34 %
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
34 %
VCP.

By Fulgent Genetics Fulgent Genetics in United States.

VCP
Specificity
100 %
Genes
34 %
PAGET-Complete.

By PentaCoreLab in Hungary.

OPTN, TNFRSF11A, VCP, SQSTM1, TNFSF11, TNFRSF11B, DCSTAMP, CSF1
Specificity
13 %
Genes
34 %
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
34 %
Dementia Panel.

By Blueprint Genetics in Finland.

UBE3A, APP, PSEN1, VCP, GRN, PSEN2, MAPT, APOE, SNCA, SIGMAR1, FUS, CHMP2B, TARDBP, UBQLN2, CSF1R, TREM2, PRNP, SORL1, RNF216, TUBA4A , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
34 %
Charcot-Marie-Tooth Neuropathy Panel.

By Blueprint Genetics in Finland.

TTR, ATP7A, C12orf65, FBLN5, AMACR, GNE, POLG, GARS, KIF1B, MFN2, VCP, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
34 %
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
34 %
Amyotrophic Lateral Sclerosis (VCP gene).

By Diagnostic Service Facility University of Antwerp in Belgium.

VCP
Specificity
100 %
Genes
34 %
AMYOTROPHIC LATERAL SCLEROSIS (ALS) (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

VCP, SQSTM1, SOD1, NEFH, FIG4, C9orf72, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, CHCHD10, PRPH
Specificity
7 %
Genes
34 %
DEMENTIA & ALZHEIMER: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

APP, PSEN1, VCP, GRN, PSEN2, MAPT, APOE, FUS, CHMP2B, TARDBP, CSF1R, TREM2, PRNP, ITM2B
Specificity
8 %
Genes
34 %
INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA.

By Laboratorio de Genetica Clinica SL in Spain.

VCP
Specificity
100 %
Genes
34 %
Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia , Sequencing VCPGene.

By Reference Laboratory Genetics in Spain.

VCP
Specificity
100 %
Genes
34 %
Amyotrophic Lateral Sclerosis , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

OPTN, VCP, SOD1, FIG4, SPG11, SPART, ALS2, FUS, SETX, TARDBP, ANG, VAPB
Specificity
9 %
Genes
34 %
Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes.

By Reference Laboratory Genetics in Spain.

ATP7A, OCRL, GARS, KIF1B, MFN2, VCP, KARS, REEP1, ELP1, SMN1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
34 %
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
34 %
Frontotemporal Dementia , Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

VCP, GRN, MAPT, SIGMAR1, FUS, CHMP2B, TARDBP, UBQLN2
Specificity
13 %
Genes
34 %
Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VCP
Specificity
100 %
Genes
34 %

Alternate names

Inclusion Body Myopathy With Early-onset Paget Disease With Or Without Frontotemporal Dementia 1; Ibmpfd1 Is also known as multisystem proteinopathy 1;msp1, muscular dystrophy, limb-girdle, with paget disease of bone, pagetoid amyotrophic lateral sclerosis, pagetoid neuroskeletal syndrome, lower motor neuron degeneration with paget-like bone disease;ibmpfd; limb-girdle muscular dystrophy with paget disease of bone; pagetoid amyotrophic lateral sclerosis; pagetoid neuroskeletal syndrome.



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