Charcot-marie-tooth Disease, Axonal, Autosomal Dominant, Type 2a2a; Cmt2a2a

Description

Charcot-Marie-Tooth disease constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies. On the basis of electrophysiologic criteria, CMT is divided into 2 major types: type 1, the demyelinating form, characterized by a slow motor median nerve conduction velocity (NCV) (less than 38 m/s), and type 2, the axonal form, with a normal or slightly reduced NCV. Distal hereditary motor neuropathy (dHMN), also known as spinal CMT, is a third type of CMT characterized by normal motor and sensory NCV and degeneration of spinal cord anterior horn cells. See CMT1B (OMIM ) and CMT1A (OMIM ) for descriptions of autosomal dominant slow nerve conduction types of Charcot-Marie-Tooth disease. See CMT4A (OMIM ) and CMTX1 (OMIM ) for autosomal recessive and X-linked forms of Charcot-Marie-Tooth disease, respectively.For a discussion of genetic heterogeneity of CMT type 2, see {118210}.

Clinical Features

Top most frequent phenotypes and symptoms related to Charcot-marie-tooth Disease, Axonal, Autosomal Dominant, Type 2a2a; Cmt2a2a

  • Pica
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cognitive impairment
  • Spasticity
  • Flexion contracture
  • Nevus
And another 37 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, Autosomal Dominant, Type 2a2a; Cmt2a2a 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 %
MFN2 DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

MFN2
Specificity
100 %
Genes
100 %
CMT Advanced Evaluation - Initial Genetic Assessment.

By Athena Diagnostics Inc in United States.

MFN2, MPZ, PMP22, GJB1
Specificity
25 %
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 %
Mitochondrial Depletion Panel.

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

TWNK, OPA1, POLG, SLC25A4, RRM2B, MFN2, OPA3, AGK, DGUOK, ABAT, GFER, SUCLA2, POLG2, TK2, SPG7, TYMP, MPV17, SUCLG1, APTX, MGME1 , (...)

View the complete list with 3 more genes
Specificity
5 %
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 %
MFN2.

By Institute for Human Genetics University Clinic Freiburg in Germany.

MFN2
Specificity
100 %
Genes
100 %
Charcot Marie Tooth Type 2A2 (MFN2).

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

MFN2
Specificity
100 %
Genes
100 %
Charcot-Marie-Tooth Neuropathy Type 2A.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

MFN2
Specificity
100 %
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 %
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication).

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

MCCC2, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRQ, UQCRB, ATPAF2, BCKDHA, BCKDHB, BCS1L, TWNK, CPT2, OPA1, TRMU, WFS1, DLD , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
Mitofusin 2 (MFN2) gene sequencing test.

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

MFN2
Specificity
100 %
Genes
100 %
MFN2. Complete sequencing.

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

MFN2
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 %
MPZ, MFN2. MLPA testing.

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

MFN2, MPZ
Specificity
50 %
Genes
100 %
Hereditary motor and sensory neuropathy VI.

By CGC Genetics in Portugal.

MFN2
Specificity
100 %
Genes
100 %
Charcot-Marie-Tooth disease type 2A2 (sequence analysis of MFN2 gene).

By CGC Genetics in Portugal.

MFN2
Specificity
100 %
Genes
100 %
Charcot-Marie-Tooth disease type 1B/2A (CMT1B/CMT2A, deletion/duplication analysis of MPZ and MFN2 genes).

By CGC Genetics in Portugal.

MFN2, MPZ
Specificity
50 %
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 %
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 %
MFN2-Related Disorders via the MFN2 Gene.

By PreventionGenetics PreventionGenetics in United States.

MFN2
Specificity
100 %
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 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)

View the complete list with 285 more genes
Specificity
1 %
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 Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TWNK, OPA1, POLG, SLC25A4, RRM2B, MFN2, OPA3, AGK, DGUOK, SUCLA2, SLC25A3, POLG2, TK2, SPG7, TYMP, MPV17, SUCLG1, APTX, MGME1, SUCLG2 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Optic Atrophy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AUH, C12orf65, OPA1, WFS1, POLG, MFN2, OPA3, ACO2, SLC24A1, MTPAP, TMEM126A, SPG7, CISD2, TIMM8A, NDUFS1, NR2F1
Specificity
7 %
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 %
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 %
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 %
(Mitochondrial) Optic Atrophy.

By MGZ Medical Genetics Center in Germany.

C12orf65, OPA1, WFS1, MFN2, OPA3, MTPAP, TMEM126A
Specificity
15 %
Genes
100 %
Charcot-Marie-Tooth Neuropathy Type 2A2.

By MGZ Medical Genetics Center in Germany.

MFN2
Specificity
100 %
Genes
100 %
Eye Diseases - panels.

By MGZ Medical Genetics Center in Germany.

C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...)

View the complete list with 147 more genes
Specificity
1 %
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 %
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 %
Hereditary Optic Atrophy.

By MGZ Medical Genetics Center in Germany.

C12orf65, OPA1, WFS1, MFN2, OPA3, MTPAP, TMEM126A
Specificity
15 %
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 %
Charcot-Marie-Tooth Neuropathy Type 2A2.

By Bioscientia GmbH Center for Human Genetics in Germany.

MFN2
Specificity
100 %
Genes
100 %
Charcot-Marie-Tooth disease.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany.

MFN2, MPZ, PMP22, GJB1
Specificity
25 %
Genes
100 %
CMT2A2.

By Centogene AG - the Rare Disease Company in Germany.

MFN2
Specificity
100 %
Genes
100 %
Comprehensive mitochondrial disorders panel.

By Centogene AG - the Rare Disease Company in Germany.

MCCC1, MCCC2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, PC, UQCRB, HLCS, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, STAR, MTRR , (...)

View the complete list with 160 more genes
Specificity
1 %
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 %
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 %
Optic Atrophy Panel.

By CeGaT GmbH in Germany.

C12orf65, OPA1, WFS1, AFG3L2, MFN2, OPA3, ACO2, TMEM126A, SPG7, CISD2, TIMM8A, NR2F1, SLC25A46, RTN4IP1, VAX2
Specificity
7 %
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 %
Single gene testing MFN2.

By CeGaT GmbH in Germany.

MFN2
Specificity
100 %
Genes
100 %
MFN2 - Gene sequencing.

By Clinical Genetics Academic Medical Center in Netherlands.

MFN2
Specificity
100 %
Genes
100 %
Charcot-Marie-Tooth Neuropathy Type 2A2 (MFN2).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

MFN2
Specificity
100 %
Genes
100 %
Mitochondrial Diseases (mtDNA and 133 nuclear genes).

By Asper Biogene Asper Biogene LLC in Estonia.

AARS2, ACAD9, ACADL, ACADM, ACADS, ACADVL, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB, HLCS, ATP5F1E, ATPAF2, AUH, BCS1L, TWNK, C12orf65, SLC37A4 , (...)

View the complete list with 112 more genes
Specificity
1 %
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 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
CMT2, MFN2 sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

MFN2
Specificity
100 %
Genes
100 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
100 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 248 more genes
Specificity
1 %
Genes
100 %
Charcot-Marie-Tooth 2A.

By Praxis fuer Humangenetik Wien in Austria.

MFN2
Specificity
100 %
Genes
100 %
MFN2.

By Division Human Genetics Medical University Innsbruck in Austria.

MFN2
Specificity
100 %
Genes
100 %
Charcot-Marie-Tooth 2A.

By MedGene in Slovakia.

MFN2
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 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 Recessive Panel.

By Invitae in United States.

MFN2, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, NEFL, EGR2, LMNA, SPG11, IGHMBP2, PLEKHG5, TRIM2, DNAJB2, HINT1, LRSAM1, MED25
Specificity
5 %
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: MFN2 and MPZ genes deletion-duplication analysis (MLPA).

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

MFN2, MPZ
Specificity
50 %
Genes
100 %
Charcot Marie-Tooth disease: MFN2 gene sequence analysis.

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

MFN2
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 %
Optic atrophy.

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

AUH, C12orf65, OPA1, WFS1, POLG, MFN2, OPA3, TMEM126A, SPG7, CISD2, TIMM8A, NDUFS1
Specificity
9 %
Genes
100 %
Eye Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, RP1, GPR143 , (...)

View the complete list with 190 more genes
Specificity
1 %
Genes
100 %
Optic Atrophy: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

OPA1, MFN2, OPA3, TMEM126A, TIMM8A
Specificity
20 %
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 %
Retina/Photoreceptor Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF513, AIPL1, BEST1, SPATA7, LRP5, COL2A1, PAX6, CHM, RP1, OPA1, ELOVL4, ABCA4, CACNA1F, NDP, OTX2, CNGB3, KCNJ13, CEP290, CLRN1, TTC8 , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %
Eye Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, PDZD7, RP1 , (...)

View the complete list with 187 more genes
Specificity
1 %
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 %
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 %
MFN2.

By Fulgent Genetics Fulgent Genetics in United States.

MFN2
Specificity
100 %
Genes
100 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
100 %
Neuro-Ophthalmology Panel.

By Blueprint Genetics in Finland.

TWNK, C12orf65, PAX6, TUBB3, GPR143, OPA1, WFS1, OTX2, POLG, SLC25A4, RRM2B, MFN2, OPA3, ACO2, TMEM126A, TK2, SPG7, CISD2, TYMP, PHOX2A , (...)

View the complete list with 18 more genes
Specificity
3 %
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 %
Optic Atrophy Panel.

By Blueprint Genetics in Finland.

C12orf65, OPA1, WFS1, POLG, MFN2, OPA3, ACO2, TMEM126A, SPG7, CISD2, TIMM8A, NDUFS1, NR2F1, PRPS1, SLC25A46, SLC52A2, RTN4IP1, SNX10, FDXR
Specificity
6 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Mitochondrial DNA Depletion Syndrome Panel.

By Blueprint Genetics in Finland.

AUH, TWNK, C12orf65, OPA1, WFS1, POLG, SLC25A4, RRM2B, MFN2, OPA3, AGK, DGUOK, TMEM126A, SUCLA2, SLC25A3, POLG2, TK2, SPG7, TYMP, TIMM8A , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Charcot-Marie-Tooth neuropathy type 2A2.

By Bioarray in Spain.

MFN2
Specificity
100 %
Genes
100 %
CHARCOT-MARIE-TOOTH DISEASE TYPE 2A2.

By Laboratorio de Genetica Clinica SL in Spain.

MFN2
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 2A, Sequencing MFN2 Gene.

By Reference Laboratory Genetics in Spain.

MFN2
Specificity
100 %
Genes
100 %
Charcot-Marie-Tooth Disease, Deletions-Duplications (MLPA) MFN2 Gene.

By Reference Laboratory Genetics in Spain.

MFN2
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 %
Mitochondrial DNA Depletion Syndrome , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

TWNK, OPA1, POLG, SLC25A4, RRM2B, MFN2, DGUOK, GFER, SUCLA2, POLG2, TK2, TYMP, MPV17, SUCLG1
Specificity
8 %
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 %

Alternate names

Charcot-marie-tooth Disease, Axonal, Autosomal Dominant, Type 2a2a; Cmt2a2a Is also known as charcot-marie-tooth disease, axonal, type 2a2;cmt2a2, charcot-marie-tooth disease, neuronal, type 2a2, charcot-marie-tooth neuropathy, type 2a2, hereditary motor and sensory neuropathy iia2;hmsn2a2, hmsn iia2;cmt2a2.



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