Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive; Chn

Description

Congenital hypomyelinating neuropathy (CHN) is characterized clinically by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities. {7,8:Warner et al. (1997, 1998)} noted that pathologic findings on sural nerve biopsies show hypomyelination of most or all fibers. Based on these findings, CHN is considered to be a result of congenital impairment in myelin formation.There has been some controversy and difficulty in differentiating congenital hypomyelination from Dejerine-Sottas syndrome (DSS ), because there is considerable overlap in clinical presentation. Based on pathologic findings of sural nerve biopsies (the absence of active myelin breakdown and the paucity of the onion bulbs in CHN and the presence of demyelination/remyelination and an abundance of well-organized onion bulbs in DSS; see Balestrini et al., 1991), CHN is considered to result from a congenital impairment in myelin formation, whereas DSS is thought to be due to aberrant demyelination and subsequent remyelination of the peripheral nerve.There is also variation in the prognosis of patients diagnosed with CHN. In patients with CHN, Harati and Butler (1985) showed correlation of morbidity and mortality with the presence/absence of onion bulbs: patients with few onion bulbs died in early infancy, usually because of difficulty in swallowing and respiration after birth. Patients with atypical onion bulbs survived but were affected with severe motor and sensory impairment. These differences in outcome may represent genetic heterogeneity such that mutations in essential early myelin gene(s) cause a severe phenotype, whereas mutations in other, possibly later acting gene(s), such as MPZ, lead to a less severe outcome.

Clinical Features

Top most frequent phenotypes and symptoms related to Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive; Chn

  • Generalized hypotonia
  • Scoliosis
  • Motor delay
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Tics
  • Talipes equinovarus
  • Areflexia
  • Respiratory failure
  • Neonatal hypotonia
And another 11 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.


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Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive; Chn 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
16 %
Genes
100 %
CMT Advanced Evaluation - Dominant, Demyelinating.

By Athena Diagnostics Inc in United States.

MPZ, PMP22, LITAF, EGR2, YARS, DNM2
Specificity
34 %
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
9 %
Genes
100 %
CMT Advanced Evaluation - Demyelinating.

By Athena Diagnostics Inc in United States.

NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, MPZ, PMP22, LITAF, EGR2, YARS, DNM2, GJB1
Specificity
14 %
Genes
100 %
EGR2 DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

EGR2
Specificity
100 %
Genes
50 %
Congenital Hypomyelination Evaluation.

By Athena Diagnostics Inc in United States.

MPZ, EGR2
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
50 %
CMT Advanced Evaluation - Nonprevalent Demyelinating.

By Athena Diagnostics Inc in United States.

NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, PMP22, LITAF, EGR2, YARS, DNM2, GJB1
Specificity
8 %
Genes
50 %
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
4 %
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
6 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
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
6 %
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
3 %
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
3 %
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
10 %
Genes
100 %
Early growth response 2 (EGR2) gene sequencing test.

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

EGR2
Specificity
100 %
Genes
50 %
EGR2. Complete sequencing.

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

EGR2
Specificity
100 %
Genes
50 %
EGR2. Complete sequencing.

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

EGR2
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth disease type 1D (sequence analysis of EGR2 gene).

By CGC Genetics in Portugal.

EGR2
Specificity
100 %
Genes
50 %
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
3 %
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
5 %
Genes
100 %
Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FBLN5, KARS, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, MPZ, PMP22, NEFL, LITAF, EGR2, YARS, DNM2, GJB1, INF2 , (...)

View the complete list with 5 more genes
Specificity
8 %
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
5 %
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
3 %
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
50 %
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
50 %
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
50 %
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
5 %
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
5 %
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
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
2 %
Genes
100 %
Charcot-Marie-Tooth Neuropathy Type 1D.

By MGZ Medical Genetics Center in Germany.

EGR2
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth Neuropathy Type 4E.

By MGZ Medical Genetics Center in Germany.

EGR2
Specificity
100 %
Genes
50 %
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
3 %
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
2 %
Genes
100 %
Charcot Marie Tooth Type 1 Panel.

By FirmaLab in United States.

MPZ, PMP22, NEFL, LITAF, EGR2
Specificity
40 %
Genes
100 %
Charcot Marie Tooth Type 4 Panel.

By FirmaLab in United States.

NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, EGR2
Specificity
12 %
Genes
50 %
Charcot-Marie-Tooth Neuropathy Type 1D.

By Bioscientia GmbH Center for Human Genetics in Germany.

EGR2
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth Neuropathy Type 4E.

By Bioscientia GmbH Center for Human Genetics in Germany.

EGR2
Specificity
100 %
Genes
50 %
CMT1D.

By Centogene AG - the Rare Disease Company in Germany.

EGR2
Specificity
100 %
Genes
50 %
CMT4E.

By Centogene AG - the Rare Disease Company in Germany.

EGR2
Specificity
100 %
Genes
50 %
Dejerine-Sottas disease.

By Centogene AG - the Rare Disease Company in Germany.

EGR2
Specificity
100 %
Genes
50 %
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 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
50 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
50 %
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
3 %
Genes
100 %
Single gene testing EGR2.

By CeGaT GmbH in Germany.

EGR2
Specificity
100 %
Genes
50 %
EGR2 - Gene sequencing.

By Clinical Genetics Academic Medical Center in Netherlands.

EGR2
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth Neuropathy Type 1D (EGR2).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

EGR2
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth Neuropathy Type 4E (EGR2).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

EGR2
Specificity
100 %
Genes
50 %
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
3 %
Genes
100 %
Charcot-Marie-Tooth 1D.

By Praxis fuer Humangenetik Wien in Austria.

EGR2
Specificity
100 %
Genes
50 %
EGR2.

By Division Human Genetics Medical University Innsbruck in Austria.

EGR2
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth 1D.

By MedGene in Slovakia.

EGR2
Specificity
100 %
Genes
50 %
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
3 %
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
5 %
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
50 %
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
9 %
Genes
100 %
Charcot Marie-Tooth disease: EGR2 gene sequence analysis.

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

EGR2
Specificity
100 %
Genes
50 %
Charcot Marie-Tooth type 4: deletions-duplications analysis (MLPA).

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

SBF2, PRX, SH3TC2, MTMR2, GDAP1, NEFL, EGR2
Specificity
15 %
Genes
50 %
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
7 %
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
3 %
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
3 %
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
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
5 %
Genes
100 %
EGR2.

By Fulgent Genetics Fulgent Genetics in United States.

EGR2
Specificity
100 %
Genes
50 %
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
3 %
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
3 %
Genes
100 %
Charcot-Marie-Tooth type 1D.

By Bioarray in Spain.

EGR2
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth disease type 4E.

By Bioarray in Spain.

EGR2
Specificity
100 %
Genes
50 %
CHARCOT-MARIE-TOOTH DISEASE TYPE 4E / 1D.

By Laboratorio de Genetica Clinica SL in Spain.

EGR2
Specificity
100 %
Genes
50 %
CHARCOT-MARIE-TOOTH DISEASE TYPE 1D.

By Laboratorio de Genetica Clinica SL in Spain.

EGR2
Specificity
100 %
Genes
50 %
CHARCOT-MARIE-TOOTH DISEASE TYPE 3 (DEJERINE-SOTTAS SYNDROME).

By Laboratorio de Genetica Clinica SL in Spain.

PRX, MPZ, PMP22, EGR2
Specificity
50 %
Genes
100 %
DEJERINE-SOTTAS SYNDROME (CHARCOT-MARIE-TOOTH TYPE 3).

By Laboratorio de Genetica Clinica SL in Spain.

PRX, MPZ, PMP22, EGR2
Specificity
50 %
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
6 %
Genes
100 %
Charcot-Marie-Tooth neuropathy demyelinating panel.

By LifeLabs Genetics in Canada.

NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, MPZ, PMP22, NEFL, LITAF, EGR2, GJB1, PRPS1, CTDP1
Specificity
14 %
Genes
100 %
Charcot-Marie-Tooth Disease Types 1D and 4E, Sequencing EGR2 Gene.

By Reference Laboratory Genetics in Spain.

EGR2
Specificity
100 %
Genes
50 %
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
7 %
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
7 %
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
5 %
Genes
100 %
Charcot-Marie-Tooth Disease Type 1 ,Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

MPZ, PMP22, NEFL, LITAF, EGR2
Specificity
40 %
Genes
100 %
Charcot-Marie-Tooth Disease Type 4 , Panel Massive Sequencing (NGS) 11 Genes.

By Reference Laboratory Genetics in Spain.

SURF1, HK1, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, EGR2
Specificity
10 %
Genes
50 %
Dejerine-Sottas Disease , Panel Massive Sequencing (NGS) EGR2, MPZ, PMP22, PRX Genes.

By Reference Laboratory Genetics in Spain.

PRX, MPZ, PMP22, EGR2
Specificity
50 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
50 %
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
50 %
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
50 %
MPZ DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

MPZ
Specificity
100 %
Genes
50 %
CMT Advanced Evaluation - Initial Genetic Assessment.

By Athena Diagnostics Inc in United States.

MFN2, MPZ, PMP22, GJB1
Specificity
25 %
Genes
50 %
Charcot-Marie-Tooth disease, type IB, 2I, 2J (MPZ).

By Center for Human Genetics, Inc in United States.

MPZ
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth disease type 2I (MPZ).

By Center for Human Genetics, Inc in United States.

MPZ
Specificity
100 %
Genes
50 %
Charcot Marie Tooth Type 2I/2J/1B.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

MPZ
Specificity
100 %
Genes
50 %
Myelin Protein Zero (MPZ) gene sequencing test.

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

MPZ
Specificity
100 %
Genes
50 %
MPZ. Complete sequencing.

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

MPZ
Specificity
100 %
Genes
50 %
MPZ. Complete sequencing.

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

MPZ
Specificity
100 %
Genes
50 %
MPZ. Complete sequencing.

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

MPZ
Specificity
100 %
Genes
50 %
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
50 %
MPZ, MFN2. MLPA testing.

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

MFN2, MPZ
Specificity
50 %
Genes
50 %
MPZ. Complete sequencing.

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

MPZ
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth Disease type 1B/2I/2J (CMT1B/2I/2J, sequence analysis of MPZ gene).

By CGC Genetics in Portugal.

MPZ
Specificity
100 %
Genes
50 %
MPZ-Related Intermediate Charcot-Marie-Tooth Neuropathy.

By CGC Genetics in Portugal.

MPZ
Specificity
100 %
Genes
50 %
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
50 %
MPZ-Related Neuropathies via MPZ Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MPZ
Specificity
100 %
Genes
50 %
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
50 %
Charcot-Marie-Tooth Neuropathy Type 1B.

By MGZ Medical Genetics Center in Germany.

MPZ
Specificity
100 %
Genes
50 %
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
50 %
Charcot-Marie-Tooth Neuropathy Type 1B.

By Bioscientia GmbH Center for Human Genetics in Germany.

MPZ
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth disease.

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

MFN2, MPZ, PMP22, GJB1
Specificity
25 %
Genes
50 %
CMT1B.

By Centogene AG - the Rare Disease Company in Germany.

MPZ
Specificity
100 %
Genes
50 %
CMT4E.

By Centogene AG - the Rare Disease Company in Germany.

MPZ
Specificity
100 %
Genes
50 %
CMT2I.

By Centogene AG - the Rare Disease Company in Germany.

MPZ
Specificity
100 %
Genes
50 %
CMT2J.

By Centogene AG - the Rare Disease Company in Germany.

MPZ
Specificity
100 %
Genes
50 %
Dejerine-Sottas disease.

By Centogene AG - the Rare Disease Company in Germany.

MPZ
Specificity
100 %
Genes
50 %
DI-CMTD.

By Centogene AG - the Rare Disease Company in Germany.

MPZ
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth disease.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

MPZ
Specificity
100 %
Genes
50 %
Single gene testing MPZ.

By CeGaT GmbH in Germany.

MPZ
Specificity
100 %
Genes
50 %
MPZ - Gene sequencing.

By Clinical Genetics Academic Medical Center in Netherlands.

MPZ
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth Neuropathy Type 1B (MPZ).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

MPZ
Specificity
100 %
Genes
50 %
MPZ-related Neuropathy.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

MPZ
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth Neuropathy Type 2I/2J (MPZ).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

MPZ
Specificity
100 %
Genes
50 %
MPZ-Related Intermediate Charcot-Marie-Tooth Neuropathy.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

MPZ
Specificity
100 %
Genes
50 %
CMT, MPZ sequencing.

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

MPZ
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth 1B.

By Praxis fuer Humangenetik Wien in Austria.

MPZ
Specificity
100 %
Genes
50 %
MPZ Gene Sequencing.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.

MPZ
Specificity
100 %
Genes
50 %
MPZ.

By Division Human Genetics Medical University Innsbruck in Austria.

MPZ
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth 1B.

By MedGene in Slovakia.

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

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

MPZ
Specificity
100 %
Genes
50 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
50 %
MPZ.

By Fulgent Genetics Fulgent Genetics in United States.

MPZ
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth disease type 4E.

By Bioarray in Spain.

MPZ
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth neuropathy type 2I.

By Bioarray in Spain.

MPZ
Specificity
100 %
Genes
50 %
Dejerine-Sottas syndrome.

By Bioarray in Spain.

MPZ
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth neuropathy type 2J.

By Bioarray in Spain.

MPZ
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth type 1B.

By Bioarray in Spain.

MPZ
Specificity
100 %
Genes
50 %
CHARCOT-MARIE-TOOTH DISEASE TYPE 2I / 2J.

By Laboratorio de Genetica Clinica SL in Spain.

MPZ
Specificity
100 %
Genes
50 %
CHARCOT-MARIE-TOOTH DISEASE TYPE 1B.

By Laboratorio de Genetica Clinica SL in Spain.

MPZ
Specificity
100 %
Genes
50 %
AREFLEXIC DYSTASIA, ROUSSY-LÉVY TYPE.

By Laboratorio de Genetica Clinica SL in Spain.

MPZ
Specificity
100 %
Genes
50 %
NEUROPATHY CONGENITAL HYPOMYELINATING.

By Laboratorio de Genetica Clinica SL in Spain.

MPZ
Specificity
100 %
Genes
50 %
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
50 %
Charcot-Marie-Tooth Disease Type 1B, Sequencing MPZ Gene.

By Reference Laboratory Genetics in Spain.

MPZ
Specificity
100 %
Genes
50 %
Roussy-Levy Syndrome , Sequencing MPZ Gene.

By Reference Laboratory Genetics in Spain.

MPZ
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth Disease Type 2J , Sequencing MPZ Gene.

By Reference Laboratory Genetics in Spain.

MPZ
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth Disease Type 2I , Sequencing MPZ Gene.

By Reference Laboratory Genetics in Spain.

MPZ
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth Disease, Deletions-Duplications (MLPA) MPZ Gene.

By Reference Laboratory Genetics in Spain.

MPZ
Specificity
100 %
Genes
50 %
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
50 %

Alternate names

Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive; Chn Is also known as hypomyelination, severe congenital, charcot-marie-tooth disease, type 4e;cmt4e, charcot-marie-tooth neuropathy, type 4e;autosomal recessive congenital hypomyelinating neuropathy; cmt4e.


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