Charcot-marie-tooth Disease, Axonal, Type 2d; Cmt2d

Description

Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.

Clinical Features

Top most frequent phenotypes and symptoms related to Charcot-marie-tooth Disease, Axonal, Type 2d; Cmt2d

  • Scoliosis
  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Tremor
  • Hyporeflexia
  • Pes cavus
  • Distal sensory impairment
  • Distal amyotrophy
  • Peripheral axonal neuropathy
And another 12 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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Charcot-marie-tooth Disease, Axonal, Type 2d; Cmt2d Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
100 %
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 %
GARS (CMT2D) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

GARS
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 %
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 %
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 %
Charcot-Marie-Tooth.

By Human Genetics University Hospital Bern in Switzerland.

GARS, SEPT9, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, MPZ, PMP22, NEFL, LITAF, RAB7A, EGR2, YARS, DNM2, GJB1, BSCL2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Glycyl-tRNA synthetase (GARS) gene sequencing test.

By Neurogenetics Department Cyprus Institute of Neurology and Genetics in Cyprus.

GARS
Specificity
100 %
Genes
100 %
GARS. Complete sequencing.

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

GARS
Specificity
100 %
Genes
100 %
DNM2, GARS, GDAP1, GJB1, MFN2, MPZ, MTMR2, NEFL, PMP22, PRX. NextGeneDx.Complete sequencing by NGS.

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

GARS, MFN2, PRX, MTMR2, GDAP1, MPZ, PMP22, NEFL, DNM2, GJB1
Specificity
10 %
Genes
100 %
GARS. Complete sequencing.

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

GARS
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 %
Spinal muscular atrophy distal type V (sequence analysis of GARS gene).

By CGC Genetics in Portugal.

GARS
Specificity
100 %
Genes
100 %
Charcot-Marie-Tooth disease type 2D (CMT2D, sequence analysis of GARS gene).

By CGC Genetics in Portugal.

GARS
Specificity
100 %
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 %
Glycyl tRNA Synthetase-Related Disorders via the GARS Gene.

By PreventionGenetics PreventionGenetics in United States.

GARS
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 %
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AARS2, ACAD9, YARS2, UQCRQ, UQCRB, ATP5F1E, ATPAF2, BCS1L, TWNK, C12orf65, ELAC2, OPA1, TRMU, DLD, POLG, NDUFS4, SLC25A4, GARS, AFG3L2, FOXRED1 , (...)

View the complete list with 154 more genes
Specificity
1 %
Genes
100 %
Atrial fibrillation Deletion / Duplication test.

By Connective Tissue Gene Tests in United States.

C12orf65, GARS, HADHB, AIFM1, GLA, FIG4, FGD4, GDAP1, EGR2, HSPB1, DNM2, GJB1, BSCL2, DYNC1H1, COX6A1, GNB4, DHTKD1, AARS, ATP1A1
Specificity
6 %
Genes
100 %
Atrial fibrillation Comprehensive test.

By Connective Tissue Gene Tests in United States.

C12orf65, GARS, HADHB, AIFM1, GLA, FIG4, FGD4, GDAP1, EGR2, HSPB1, DNM2, GJB1, BSCL2, DYNC1H1, COX6A1, GNB4, DHTKD1, AARS, ATP1A1
Specificity
6 %
Genes
100 %
Atrial fibrillation NGS test.

By Connective Tissue Gene Tests in United States.

C12orf65, GARS, HADHB, AIFM1, GLA, FIG4, FGD4, GDAP1, EGR2, HSPB1, DNM2, GJB1, BSCL2, DYNC1H1, COX6A1, GNB4, DHTKD1, AARS, ATP1A1
Specificity
6 %
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 %
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 %
GARS-Associated Axonal Neuropathy.

By MGZ Medical Genetics Center in Germany.

GARS
Specificity
100 %
Genes
100 %
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
100 %
Mitochondrial Diseases.

By MGZ Medical Genetics Center in Germany.

AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, UQCRB, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SDHAF2, CPT2, OPA1, TRMU , (...)

View the complete list with 148 more genes
Specificity
1 %
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 %
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 %
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 %
CMT2D.

By Centogene AG - the Rare Disease Company in Germany.

GARS
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 %
Neuronopathy distal hereditary motor type V.

By Centogene AG - the Rare Disease Company in Germany.

GARS
Specificity
100 %
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 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH in Germany.

MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)

View the complete list with 263 more genes
Specificity
1 %
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 GARS.

By CeGaT GmbH in Germany.

GARS
Specificity
100 %
Genes
100 %
GARS - Gene sequencing.

By Clinical Genetics Academic Medical Center in Netherlands.

GARS
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 %
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 %
Charcot Marie-Tooth disease: GARS gene sequence analysis.

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

GARS
Specificity
100 %
Genes
100 %
Neuropathy, distal hereditary motor, type V: GARS gene sequence analysis.

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

GARS
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 %
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 %
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 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 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 %
GARS.

By Fulgent Genetics Fulgent Genetics in United States.

GARS
Specificity
100 %
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 %
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 %
Distal hereditary motor neuropathy type 5.

By Bioarray in Spain.

GARS
Specificity
100 %
Genes
100 %
Charcot-Marie-Tooth neuropathy type 2D.

By Bioarray in Spain.

GARS
Specificity
100 %
Genes
100 %
CHARCOT-MARIE-TOOTH DISEASE TYPE 2D.

By Laboratorio de Genetica Clinica SL in Spain.

GARS
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 %
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 2D, Sequencing GARS Gene.

By Reference Laboratory Genetics in Spain.

GARS
Specificity
100 %
Genes
100 %
Hereditary Distal Motor Neuropathy Type V , Sequencing GARS Gene.

By Reference Laboratory Genetics in Spain.

GARS
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 %
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 %
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 %

Alternate names

Charcot-marie-tooth Disease, Axonal, Type 2d; Cmt2d Is also known as charcot-marie-tooth disease, neuronal, type 2d, charcot-marie-tooth neuropathy, type 2d;cmt2d.


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