Spinal Muscular Atrophy, Scapuloperoneal

Clinical Features

Phenotypes and symptoms related to Spinal Muscular Atrophy, Scapuloperoneal

  • Spinal muscular atrophy
  • Peroneal muscle atrophy
  • Scapular muscle atrophy

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Spinal Muscular Atrophy, Scapuloperoneal Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CMT Advanced Evaluation - Dominant.

By Athena Diagnostics Inc in United States.

GARS, MFN2, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2
Specificity
8 %
Genes
100 %
CMT Advanced Evaluation - Dominant, Axonal.

By Athena Diagnostics Inc in United States.

GARS, MFN2, TRPV4, MPZ, NEFL, HSPB8, RAB7A, HSPB1, YARS, DNM2, LMNA
Specificity
10 %
Genes
100 %
CMT Advanced Evaluation - Comprehensive.

By Athena Diagnostics Inc in United States.

GARS, MFN2, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
CMT Advanced Evaluation - Axonal.

By Athena Diagnostics Inc in United States.

GARS, MFN2, GDAP1, TRPV4, MPZ, NEFL, HSPB8, RAB7A, HSPB1, YARS, DNM2, LMNA, GJB1
Specificity
8 %
Genes
100 %
TRPV4 DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

TRPV4
Specificity
100 %
Genes
100 %
CMT Advanced Evaluation - Nonprevalent.

By Athena Diagnostics Inc in United States.

GARS, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc in United States.

GARS, TRPV4, HSPB8, HSPB1, UBA1, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2
Specificity
10 %
Genes
100 %
CMT Advanced Evaluation - Nonprevalent Axonal.

By Athena Diagnostics Inc in United States.

GARS, GDAP1, TRPV4, NEFL, HSPB8, RAB7A, HSPB1, YARS, DNM2, LMNA, GJB1
Specificity
10 %
Genes
100 %
NGS Skeletal Dysplasia Panel.

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

COL2A1, COL1A1, COL1A2, FGFR3, SLC26A2, TRPV4, HSPG2, FLNA, COMP, SOX9
Specificity
10 %
Genes
100 %
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
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 %
Charcot-Marie-Tooth Syndrome.

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

GARS, KIF1B, MFN2, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Charcot Marie Tooth Panel.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

TTR, GARS, KIF1B, MFN2, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ATP7A, FBLN5, GARS, KIF1B, MFN2, HARS, KARS, SPTLC2, REEP1, AIFM1, HEXA, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ATP7A, FBLN5, GARS, KIF1B, MFN2, HARS, KARS, SPTLC2, REEP1, AIFM1, HEXA, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
Scapuloperoneal Spinal Muscular Atrophy.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

TRPV4
Specificity
100 %
Genes
100 %
Charcot-Marie-Tooth Neuropathy Type 2C.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

TRPV4
Specificity
100 %
Genes
100 %
Distal Congenital Nonprogressive Spinal Muscular Atrophy.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

TRPV4
Specificity
100 %
Genes
100 %
Brachyolmia type 3.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

TRPV4
Specificity
100 %
Genes
100 %
Metatropic Dysplasia.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

TRPV4
Specificity
100 %
Genes
100 %
Spondylometaphyseal Dysplasia, Kozlowski Type.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

TRPV4
Specificity
100 %
Genes
100 %
Brachyolmia type 2.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

TRPV4
Specificity
100 %
Genes
100 %
TRPV4. Complete sequencing.

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

TRPV4
Specificity
100 %
Genes
100 %
TRPV4. Sequencing of the exons 5 and 6.

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

TRPV4
Specificity
100 %
Genes
100 %
TRPV4. Complete sequencing.

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

TRPV4
Specificity
100 %
Genes
100 %
Distal Congenital Nonprogressive Spinal Muscular Atrophy.

By CGC Genetics in Portugal.

TRPV4
Specificity
100 %
Genes
100 %
Scapuloperoneal Spinal Muscular Atrophy.

By CGC Genetics in Portugal.

TRPV4
Specificity
100 %
Genes
100 %
Charcot-Marie-Tooth disease type 2C (sequence analysis of TRPV4 gene).

By CGC Genetics in Portugal.

TRPV4
Specificity
100 %
Genes
100 %
Metatropic dysplasia (p.R594H and p.P799L mutations on TRPV4 gene).

By CGC Genetics in Portugal.

TRPV4
Specificity
100 %
Genes
100 %
Spondylometaphyseal dysplasia (sequence analysis of TRPV4 gene).

By CGC Genetics in Portugal.

TRPV4
Specificity
100 %
Genes
100 %
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes).

By CGC Genetics in Portugal.

TTR, ABHD12, TWNK, C12orf65, GARS, KIF1B, MFN2, KARS, SPTLC2, REEP1, TYMP, AIFM1, PHYH, HK1, SEPT9, ELP1, SLC12A6, NDRG1, SBF2, PRX , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
100 %
Skeletal dysplasia (NGS panel for 31 genes).

By CGC Genetics in Portugal.

ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Charcot-Marie-Tooth disease (NGS panel for 43 genes).

By CGC Genetics in Portugal.

C12orf65, GARS, KIF1B, MFN2, KARS, AIFM1, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Spinal muscular atrophy (NGS panel for 21 genes).

By CGC Genetics in Portugal.

ATP7A, GARS, REEP1, SCO2, TRPV4, HSPB8, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, VRK1, IGHMBP2, ASAH1, PLEKHG5, DNAJB2, SLC5A7, CHCHD10, EXOSC8 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FBLN5, GARS, MFN2, KARS, AIFM1, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GARS, MFN2, KARS, AIFM1, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, NEFL, HSPB8, RAB7A, HSPB1, DNM2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Distal Hereditary Motor Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ATP7A, GARS, REEP1, TRPV4, HSPB8, HSPB1, BSCL2, SIGMAR1, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, LAS1L, DNAJB2, HINT1, AARS, GAN, SLC5A7 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
100 %
TRPV4-related Disorders via the TRPV4 Gene.

By PreventionGenetics PreventionGenetics in United States.

TRPV4
Specificity
100 %
Genes
100 %
Comprehensive Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TTR, ATP7A, FBLN5, GARS, MFN2, KARS, SPTLC2, REEP1, AIFM1, HK1, ELP1, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1 , (...)

View the complete list with 51 more genes
Specificity
2 %
Genes
100 %
Charcot-Marie-Tooth disease Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

C12orf65, GARS, KIF1B, MFN2, KARS, HADHB, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Charcot-Marie-Tooth disease NGS panel.

By Connective Tissue Gene Tests in United States.

C12orf65, GARS, KIF1B, MFN2, KARS, HADHB, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Charcot-Marie-Tooth disease Comprehensive panel.

By Connective Tissue Gene Tests in United States.

C12orf65, GARS, KIF1B, MFN2, KARS, HADHB, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ATP7A, GARS, HARS, REEP1, TRPV4, HSPB8, HSPB1, GJB1, BSCL2, SIGMAR1, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, PLEKHG5, PDK3, DNAJB2, HINT1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Distal hereditary motor neuropathy and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

ATP7A, GARS, HARS, REEP1, TRPV4, HSPB8, HSPB1, GJB1, BSCL2, SIGMAR1, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, PLEKHG5, PDK3, DNAJB2, HINT1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Distal hereditary motor neuropathy and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ATP7A, GARS, HARS, REEP1, TRPV4, HSPB8, HSPB1, GJB1, BSCL2, SIGMAR1, SETX, DCTN1, BICD2, DYNC1H1, HSPB3, IGHMBP2, PLEKHG5, PDK3, DNAJB2, HINT1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Skeletal dysplasia extended NGS panel.

By Connective Tissue Gene Tests in United States.

COL10A1, RMRP, SBDS, PEX7, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, ARSE, FLNB, LIFR, SLC35D1, DDR2, MMP13, MMP9
Specificity
6 %
Genes
100 %
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Skeletal dysplasia core & extended Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Skeletal dysplasia extended Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL10A1, RMRP, SBDS, PEX7, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, ARSE, FLNB, LIFR, SLC35D1, DDR2, MMP13, MMP9
Specificity
6 %
Genes
100 %
Skeletal dysplasia core & extended Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel.

By Connective Tissue Gene Tests in United States.

COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Spondylo-Epi-Metaphyseal dysplasias NGS panel.

By Connective Tissue Gene Tests in United States.

COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Skeletal dysplasia core & extended NGS panel.

By Connective Tissue Gene Tests in United States.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Skeletal dysplasia extended Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

COL10A1, RMRP, SBDS, PEX7, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, ARSE, FLNB, LIFR, SLC35D1, DDR2, MMP13, MMP9
Specificity
6 %
Genes
100 %
Spondyloepiphyseal dysplasia, Maroteaux type Comprehensive test.

By Connective Tissue Gene Tests in United States.

TRPV4
Specificity
100 %
Genes
100 %
Spondylometaphyseal dysplasia, Kozlowski type Comprehensive test.

By Connective Tissue Gene Tests in United States.

TRPV4
Specificity
100 %
Genes
100 %
Hereditary motor and sensory neuropathy, type IIC Comprehensive test.

By Connective Tissue Gene Tests in United States.

TRPV4
Specificity
100 %
Genes
100 %
Spinal muscular atrophy, distal, congenital nonprogressive Comprehensive test.

By Connective Tissue Gene Tests in United States.

TRPV4
Specificity
100 %
Genes
100 %
Metatropic dysplasia Sequencing test.

By Connective Tissue Gene Tests in United States.

TRPV4
Specificity
100 %
Genes
100 %
Metatropic dysplasia Comprehensive test.

By Connective Tissue Gene Tests in United States.

TRPV4
Specificity
100 %
Genes
100 %
Hereditary motor and sensory neuropathy, type IIC Sequencing test.

By Connective Tissue Gene Tests in United States.

TRPV4
Specificity
100 %
Genes
100 %
Spondylometaphyseal dysplasia, Kozlowski type Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

TRPV4
Specificity
100 %
Genes
100 %
Parastremmatic dwarfism Comprehensive test.

By Connective Tissue Gene Tests in United States.

TRPV4
Specificity
100 %
Genes
100 %
Parastremmatic dwarfism Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

TRPV4
Specificity
100 %
Genes
100 %
Spinal muscular atrophy, distal, congenital nonprogressive Sequencng test.

By Connective Tissue Gene Tests in United States.

TRPV4
Specificity
100 %
Genes
100 %
Spondyloepiphyseal dysplasia, Maroteaux type Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

TRPV4
Specificity
100 %
Genes
100 %
Hereditary motor and sensory neuropathy, type IIC Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

TRPV4
Specificity
100 %
Genes
100 %
Spondylometaphyseal dysplasia, Kozlowski type Sequencing test.

By Connective Tissue Gene Tests in United States.

TRPV4
Specificity
100 %
Genes
100 %
Metatropic dysplasia Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

TRPV4
Specificity
100 %
Genes
100 %
Spondyloepiphyseal dysplasia, Maroteaux type Sequencing test.

By Connective Tissue Gene Tests in United States.

TRPV4
Specificity
100 %
Genes
100 %
Parastremmatic dwarfism Sequencing test.

By Connective Tissue Gene Tests in United States.

TRPV4
Specificity
100 %
Genes
100 %
Spinal muscular atrophy, distal, congenital nonprogressive Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

TRPV4
Specificity
100 %
Genes
100 %
Spinal muscular atrophy, distal, congenital nonprogressive.

By Institute of Human Genetics Cologne University in Germany.

TRPV4
Specificity
100 %
Genes
100 %
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
100 %
Charcot-Marie-Tooth Neuropathy Type 2C.

By MGZ Medical Genetics Center in Germany.

TRPV4
Specificity
100 %
Genes
100 %
Newborn: “Floppy Infant “.

By MGZ Medical Genetics Center in Germany.

GAA, GARS, MFN2, ALG2, CHAT, GBE1, DPAGT1, CHRNE, DOK7, FKTN, NEB, POMGNT1, RAPSN, GDAP1, TRPV4, MPZ, NEFL, EGR2, DNM2, LMNA , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Spinal Muscular Atrophy, Proximal Motor Neuropathy.

By MGZ Medical Genetics Center in Germany.

MFN2, HEXA, TRPV4, LMNA, SETX, VAPB, BICD2, DYNC1H1, IGHMBP2, LAS1L, TFG, SLC52A2, SLC52A3, CLP1
Specificity
8 %
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 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 %
Charcot Marie Tooth Type 2 Panel.

By FirmaLab in United States.

GARS, KIF1B, MFN2, GDAP1, TRPV4, MPZ, NEFL, HSPB8, RAB7A, HSPB1, YARS, DNM2, LMNA, AARS, MED25
Specificity
7 %
Genes
100 %
CMT2C.

By Centogene AG - the Rare Disease Company in Germany.

TRPV4
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 %
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
1 %
Genes
100 %
Spinal Muscular Atrophy Panel.

By CeGaT GmbH in Germany.

ATP7A, GARS, REEP1, SCO2, HEXA, TRPV4, HSPB8, HSPB1, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1, LAS1L, EXOSC3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Charcot-Marie-Tooth and Sensory Neuropathies Panel.

By CeGaT GmbH in Germany.

TTR, ABHD12, TWNK, C12orf65, FBLN5, OPA1, POLG, GARS, KIF1B, MFN2, HADHA, HARS, KARS, SPTLC2, REEP1, HADHB, TYMP, AIFM1, SURF1, HK1 , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Spinal Muscular Atrophy (SMA) Panel.

By CeGaT GmbH in Germany.

ATP7A, GARS, REEP1, SCO2, HEXA, TRPV4, HSPB8, HSPB1, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1, LAS1L, EXOSC3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Single gene testing TRPV4.

By CeGaT GmbH in Germany.

TRPV4
Specificity
100 %
Genes
100 %
Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel.

By CeGaT GmbH in Germany.

COL2A1, SLC39A13, RMRP, TRPV4, HSPG2, COL11A1, COL11A2, CANT1, DYM, B3GALT6, EIF2AK3, SMARCAL1, WISP3, CHST3, IMPAD1, NKX3-2, ACP5, RAB33B, TRAPPC2, MATN3 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Potentially lethal skeletal disorders Panel.

By CeGaT GmbH in Germany.

ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, FAM20C, PPIB, FGFR3, DHCR7, FGFR2, PEX7, SLC26A2, TRPV4, FLNA, OFD1, LBR, COL11A1, COL11A2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel.

By CeGaT GmbH in Germany.

TRPV4, GLI3, TP63, BMPR1B, GJA1, HOXA11, ROR2, WNT7A, LRP4, HOXD13, PTHLH, GDF5, WNT10B, BMP2, BHLHA9, IHH, FBLN1, NOG, LMBR1, FGF16
Specificity
5 %
Genes
100 %
TRPV4 - Gene sequencing.

By Clinical Genetics Academic Medical Center in Netherlands.

TRPV4
Specificity
100 %
Genes
100 %
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
100 %
Brachyolmia type 3.

By Praxis fuer Humangenetik Wien in Austria.

TRPV4
Specificity
100 %
Genes
100 %
Charcot-Marie-Tooth 2C.

By Praxis fuer Humangenetik Wien in Austria.

TRPV4
Specificity
100 %
Genes
100 %
Digital arthropathy-brachydactyly, familial.

By Praxis fuer Humangenetik Wien in Austria.

TRPV4
Specificity
100 %
Genes
100 %
Metatropic dysplasia.

By Praxis fuer Humangenetik Wien in Austria.

TRPV4
Specificity
100 %
Genes
100 %
Parastremmatic dwarfism.

By Praxis fuer Humangenetik Wien in Austria.

TRPV4
Specificity
100 %
Genes
100 %
Scapuloperoneal spinal muscular atrophy.

By Praxis fuer Humangenetik Wien in Austria.

TRPV4
Specificity
100 %
Genes
100 %
Spondyloepiphyseal dyspalsia, Maroteaux type.

By Praxis fuer Humangenetik Wien in Austria.

TRPV4
Specificity
100 %
Genes
100 %
Spondylometaphyseal dysplasia, Kozlowski type.

By Praxis fuer Humangenetik Wien in Austria.

TRPV4
Specificity
100 %
Genes
100 %
Brachyolmia type 3.

By MedGene in Slovakia.

TRPV4
Specificity
100 %
Genes
100 %
Charcot-Marie-Tooth 2C.

By MedGene in Slovakia.

TRPV4
Specificity
100 %
Genes
100 %
Digital arthropathy-brachydactyly, familial.

By MedGene in Slovakia.

TRPV4
Specificity
100 %
Genes
100 %
Metatropic dysplasia.

By MedGene in Slovakia.

TRPV4
Specificity
100 %
Genes
100 %
Parastremmatic dwarfism.

By MedGene in Slovakia.

TRPV4
Specificity
100 %
Genes
100 %
Scapuloperoneal spinal muscular atrophy.

By MedGene in Slovakia.

TRPV4
Specificity
100 %
Genes
100 %
Spondyloepiphyseal dyspalsia, Maroteaux type.

By MedGene in Slovakia.

TRPV4
Specificity
100 %
Genes
100 %
Spondylometaphyseal dysplasia, Kozlowski type.

By MedGene in Slovakia.

TRPV4
Specificity
100 %
Genes
100 %
Invitae Comprehensive Neuropathies Panel.

By Invitae in United States.

TTR, ATP7A, GARS, MFN2, HARS, SPTLC2, REEP1, AIFM1, ELP1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Invitae Hereditary Motor Neuropathy Panel.

By Invitae in United States.

ATP7A, GARS, REEP1, SMN1, TRPV4, HSPB8, HSPB1, SMN2, UBA1, BSCL2, SIGMAR1, DCTN1, VAPB, BICD2, DYNC1H1, IGHMBP2, PLEKHG5, DNAJB2, HINT1, SLC5A7 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Invitae Charcot-Marie-Tooth Disease Comprehensive Panel.

By Invitae in United States.

GARS, MFN2, HARS, AIFM1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Invitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel.

By Invitae in United States.

GARS, MFN2, HARS, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, INF2, BSCL2, DYNC1H1, MORC2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Spondylometaphyseal dysplasia, Kozlowski type: TRPV4 gene sequence analysis (exons 5, 6, 8-9, 11-14).

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

TRPV4
Specificity
100 %
Genes
100 %
Charcot Marie-Tooth disease: TRPV4 gene sequence analysis.

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

TRPV4
Specificity
100 %
Genes
100 %
Spondylometaphyseal dysplasia, Kozlowski type: TRPV4 gene sequence analysis.

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

TRPV4
Specificity
100 %
Genes
100 %
CHARCOT- MARIE TOOTH.

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

GARS, KIF1B, MFN2, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Skeletal dysplasias.

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

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, PTH1R, EBP , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Disproportionate Short Stature: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, COL2A1, COL1A1, FBN1, SLC39A13, AGPS, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5 , (...)

View the complete list with 65 more genes
Specificity
2 %
Genes
100 %
Hereditary Neuropathies: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
100 %
Disproportionate Short Stature: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ANKH, COL2A1, COL1A1, FBN1, SLC39A13, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5, HSPG2 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
100 %
Hereditary Neuropathies: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

TTR, ATP7A, TWNK, PRKCG, POLG, GARS, KIF1B, MFN2, SPTLC2, COQ8A, REEP1, SPG7, ALDH3A2, PHYH, FXN, APTX, ELP1, GLA, PLP1, ATM , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Hereditary Neuropathies NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TTR, GARS, KIF1B, MFN2, SPTLC2, GLA, NDRG1, SBF2, PRX, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
100 %
Distal Hereditary Motor Neuropathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ATP7A, GARS, REEP1, FIG4, TRPV4, HSPB8, HSPB1, BSCL2, SETX, DCTN1, MEGF10, IGHMBP2, DNMT1, GAN, SLC5A7
Specificity
7 %
Genes
100 %
Charcot Marie Tooth Disease Extended NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TTR, ATP7A, GARS, KIF1B, MFN2, SPTLC2, REEP1, ELP1, GLA, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
TRPV4.

By Fulgent Genetics Fulgent Genetics in United States.

TRPV4
Specificity
100 %
Genes
100 %
Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel.

By Blueprint Genetics in Finland.

COL2A1, SLC39A13, RMRP, TRPV4, HSPG2, COL11A1, COL11A2, CANT1, DYM, BGN, B3GALT6, EIF2AK3, SMARCAL1, WISP3, CHST3, NKX3-2, ACP5, RAB33B, TRAPPC2, MATN3 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
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
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 %
Spinal Muscular Atrophy Panel.

By Blueprint Genetics in Finland.

ATP7A, GARS, REEP1, SCO2, HEXA, SMN1, TRPV4, HSPB8, HSPB1, SMN2, UBA1, BSCL2, DCTN1, VAPB, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, ASAH1 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Skeletal Dysplasias Core Panel.

By Blueprint Genetics in Finland.

ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
100 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
Charcot-Marie-Tooth neuropathy type 2C.

By Bioarray in Spain.

TRPV4
Specificity
100 %
Genes
100 %
Brachyolmia type 3.

By Bioarray in Spain.

TRPV4
Specificity
100 %
Genes
100 %
CHARCOT-MARIE-TOOTH DISEASE TYPE 2C.

By Laboratorio de Genetica Clinica SL in Spain.

TRPV4
Specificity
100 %
Genes
100 %
CHARCOT-MARIE-TOOTH : NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

GARS, KIF1B, MFN2, KARS, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE.

By Laboratorio de Genetica Clinica SL in Spain.

TRPV4
Specificity
100 %
Genes
100 %
Charcot-Marie-Tooth neuropathy axonal autosomal dominant panel.

By LifeLabs Genetics in Canada.

GARS, KIF1B, MFN2, SLC12A6, GDAP1, TRPV4, MPZ, NEFL, HSPB8, HSPB1, YARS, DNM2, LMNA, DYNC1H1, AARS, MED25, GAN, ARHGEF10
Specificity
6 %
Genes
100 %
Charcot-Marie-Tooth Disease Type 2, Sequencing TRPV4 Gene.

By Reference Laboratory Genetics in Spain.

TRPV4
Specificity
100 %
Genes
100 %
Brachyolmia Type 3 , Sequencing TRPV4 Gene.

By Reference Laboratory Genetics in Spain.

TRPV4
Specificity
100 %
Genes
100 %
Spondylometaphyseal Dysplasia Type Kozlowsky, Sequencing TRPV4 Gene.

By Reference Laboratory Genetics in Spain.

TRPV4
Specificity
100 %
Genes
100 %
Spondylometaphyseal Dysplasia Type Kozlowsky, Sequencing Exons (5,6,8,9,11-14) TRPV4 Gene.

By Reference Laboratory Genetics in Spain.

TRPV4
Specificity
100 %
Genes
100 %
Scapuloperoneal Spinal Muscular Atrophy , Sequencing TRPV4 Gene.

By Reference Laboratory Genetics in Spain.

TRPV4
Specificity
100 %
Genes
100 %
Hereditary Peripheral Neuropathy , Panel Massive Sequencing (NGS) 31 Genes.

By Reference Laboratory Genetics in Spain.

GARS, KIF1B, MFN2, PHYH, PEX7, SLC12A6, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes.

By Reference Laboratory Genetics in Spain.

GARS, KIF1B, MFN2, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Rheumatoid Type Osteoarthropathy and Related Disorders , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

COL2A1, TRPV4, LPIN2, WISP3, IL1RN, HPGD, ACAN
Specificity
15 %
Genes
100 %
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
100 %
Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes.

By Reference Laboratory Genetics in Spain.

ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, PTH1R, EBP , (...)

View the complete list with 16 more genes
Specificity
3 %
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 %
Charcot-Marie-Tooth Disease Type 2 , Panel Massive Sequencing (NGS) 20 Genes.

By Reference Laboratory Genetics in Spain.

GARS, KIF1B, MFN2, HARS, NAGLU, GDAP1, TRPV4, MPZ, NEFL, HSPB8, RAB7A, HSPB1, DNM2, LMNA, DYNC1H1, IGHMBP2, MME, LRSAM1, AARS, MED25
Specificity
5 %
Genes
100 %
Spinal Muscular Atrophy and related Disorders , Panel Massive Sequencing (NGS) 19 Genes.

By Reference Laboratory Genetics in Spain.

ATP7A, GARS, REEP1, SCO2, SMN1, TRPV4, HSPB8, SMN2, UBA1, BSCL2, DCTN1, VAPB, DYNC1H1, VRK1, IGHMBP2, ASAH1, PLEKHG5, DNAJB2, SLC5A7
Specificity
6 %
Genes
100 %
TRPV4-Associated Disorders: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TRPV4
Specificity
100 %
Genes
100 %

Alternate names

Spinal Muscular Atrophy, Scapuloperoneal Is also known as ;neurogenic scapuloperoneal amyotrophy, new england type; spsma; scapuloperoneal neuronopathy.



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