Charcot-marie-tooth Disease Type 2t
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Charcot-marie-tooth Disease Type 2t Is also known as ar-cmt2t, cmt2t, autosomal recessive axonal charcot-marie-tooth disease type 2t.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Charcot-marie-tooth Disease Type 2t Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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Charcot-Marie-Tooth Hereditary Neuropathy Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SBF1, SLC12A6, SPG11, SURF1, TFG, VCP, YARS, PRX, BSCL2, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2 , (...)
View the complete list with 34 more genes
Specificity
2 %
Genes
100 % |
Ataxia Exome Panel.
By Genetic Services Laboratory University of Chicago (United States).
BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)
View the complete list with 457 more genes
Specificity
1 %
Genes
100 % |
MME.
By Fulgent Genetics Fulgent Genetics (United States).
MME
Specificity
100 %
Genes
100 % |
Ataxia Panel.
By Blueprint Genetics (Finland).
SACS, SLC1A3, SLC20A2, SLC2A1, SLC9A6, SPG7, SPTBN2, STUB1, TWNK, ACO2, CEP41, TTPA, VAMP1, VLDLR, WFS1, WWOX, ARL6, ATP8A2, FBXL4, CA8 , (...)
View the complete list with 137 more genes
Specificity
1 %
Genes
100 % |
Comprehensive Muscular Dystrophy / Myopathy Panel.
By Blueprint Genetics (Finland).
SGCA, SGCB, SGCD, SGCG, TCAP, TNNT1, TPM2, TPM3, MYOT, TTN, ACTA1, CAPN3, DNAJB6, CAV3, MICU1, LDB3, RBCK1, SELENON, LIMS2, TRIM32 , (...)
View the complete list with 53 more genes
Specificity
2 %
Genes
100 % |
Charcot-Marie-Tooth Neuropathy Panel.
By Blueprint Genetics (Finland).
SACS, SBF1, SCN11A, SCN9A, DST, SLC12A6, SPG11, ATL1, SPTLC1, SPTLC2, SURF1, TFG, MYOT, TTR, VCP, YARS, PRX, PRDM12, ARHGEF10, WNK1 , (...)
View the complete list with 78 more genes
Specificity
2 %
Genes
100 % |
CHARCOT-MARIE-TOOTH TYPE 2T.
By Laboratorio de Genetica Clinica SL (Spain).
MME
Specificity
100 %
Genes
100 % |
Charcot-Marie-Tooth Disease Type 2 , Panel Massive Sequencing (NGS) 20 Genes.
By Reference Laboratory Genetics (Spain).
GDAP1, KIF1B, MFN2, TRPV4, AARS, LRSAM1, MED25, DYNC1H1, DNM2, HSPB8, GARS, HARS, HSPB1, IGHMBP2, LMNA, MME, MPZ, NAGLU, NEFL, RAB7A
Specificity
5 %
Genes
100 % |
You can get up to 0 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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