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Autosomal dominant Charcot-Marie-Tooth disease type 2J

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Name:
Autosomal dominant Charcot-Marie-Tooth disease type 2J
Description:
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.
ORPHAcode:
99943
Synonyms:
CMT2J
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
MPZ
Created:
Changed:
  • Inherited Peripheral Neuropathies gene panel (165 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    VWA1 89.29 0 ,
    PRDM12 92.40 0 ,
    SORD 94.99 0 ,
    ABHD12 98.57 0 ,
    NAGLU 98.71 0 ,
    CTDP1 99.13 0 ,
    CHCHD10 99.42 0 ,
    GSN 99.43 0 ,
    APTX 99.61 0 ,
    RETREG1 99.71 0 ,
    DNMT1 99.76 0 ,
    NEFH 99.80 0 ,
    TBCE 99.80 0 ,
    PRX 99.83 0 ,
    CPOX 99.85 0 ,
    PRNP 99.86 0 ,
    SEPTIN9 99.87 0 ,
    PEX7 99.90 0 ,
    NEFL 99.91 0 ,
    TYMP 99.91 0 ,
    IARS2 99.92 0 ,
    PLEKHG5 99.93 0 ,
    AGTPBP1 99.93 0 ,
    NDRG1 99.93 0 ,
    DGAT2 99.93 0 ,
    ITPR3 99.94 0 ,
    PDK3 99.94 0 ,
    PHYH 99.94 0 ,
    MYH14 99.95 0 ,
    PIEZO2 99.95 0 ,
    SYT2 99.95 0 ,
    SPTLC2 99.95 0 ,
    SOX10 99.95 0 ,
    B4GALNT1 99.95 0 ,
    POLG 99.95 0 ,
    KARS1 99.95 0 ,
    IFRD1 99.96 0 ,
    FGD4 99.96 0 ,
    GJB1 99.96 0 ,
    REEP1 99.96 0 ,
    GAN 99.96 0 ,
    VCP 99.97 0 ,
    INF2 99.97 0 ,
    HSPB1 99.97 0 ,
    DRP2 99.97 0 ,
    NTRK1 99.97 0 ,
    DNM2 99.97 0 ,
    PIGB 99.97 0 ,
    PRPS1 99.97 0 ,
    SCN11A 99.97 0 ,
    KIF1B 99.97 0 ,
    HARS1 99.97 0 ,
    FBLN5 99.97 0 ,
    ABCD1 99.97 0 ,
    KIF1A 99.97 0 ,
    CD59 99.98 0 ,
    CNTNAP1 99.98 0 ,
    SBF1 99.98 0 ,
    SPTLC1 99.98 0 ,
    AARS1 99.98 0 ,
    PMP2 99.98 0 ,
    ADPRS 99.98 0 ,
    MPZ 99.98 0 ,
    TFG 99.98 0 ,
    BICD2 99.98 0 ,
    PEX1 99.98 0 ,
    GARS1 99.98 0 ,
    TECPR2 99.98 0 ,
    POLR3B 99.98 0 ,
    ATP1A1 99.98 0 ,
    BSCL2 99.98 0 ,
    CLTCL1 99.98 0 ,
    MME 99.99 0 ,
    SCN10A 99.99 0 ,
    SLC25A46 99.99 0 ,
    HADHB 99.99 0 ,
    CCT5 99.99 0 ,
    HK1 99.99 0 ,
    KIF5A 99.99 0 ,
    CADM3 99.99 0 ,
    ATL3 99.99 0 ,
    MTMR2 99.99 0 ,
    SPG11 99.99 0 ,
    SETX 99.99 0 ,
    SBF2 99.99 0 ,
    SCN9A 99.99 0 ,
    SLC52A3 99.99 0 ,
    ARHGEF10 99.99 0 ,
    AIFM1 99.99 0 ,
    MORC2 99.99 0 ,
    DHTKD1 99.99 0 ,
    HEXA 99.99 0 ,
    MARS1 99.99 0 ,
    SLC12A6 99.99 0 ,
    ATL1 99.99 0 ,
    COX6A1 99.99 0 ,
    WARS1 99.99 0 ,
    PDXK 99.99 0 ,
    BAG3 99.99 0 ,
    HSPB3 99.99 0 ,
    MED25 99.99 0 ,
    ELP1 99.99 0 ,
    EGR2 99.99 0 ,
    TUBB3 99.99 0 ,
    HNRNPA1 99.99 0 ,
    FBXO38 99.99 0 ,
    YARS1 99.99 0 ,
    SPTAN1 99.99 0 ,
    ATP7A 99.99 0 ,
    VRK1 99.99 0 ,
    SCP2 99.99 0 ,
    MFN2 99.99 0 ,
    DNAJB2 99.99 0 ,
    TTR 99.99 0 ,
    TDP1 99.99 0 ,
    LMNA 99.99 0 ,
    DYNC1H1 99.99 0 ,
    CFAP276 99.99 0 ,
    GNB4 99.99 0 ,
    TWNK 99.99 0 ,
    SGPL1 99.99 0 ,
    HADHA 99.99 0 ,
    MCM3AP 99.99 0 ,
    COA7 99.99 0 ,
    CYP27A1 100.00 0 ,
    GBF1 100.00 0 ,
    SLC5A7 100.00 0 ,
    LRSAM1 100.00 0 ,
    SPTLC3 100.00 0 ,
    DCAF8 100.00 0 ,
    FIG4 100.00 0 ,
    DST 100.00 0 ,
    DCTN1 100.00 0 ,
    TRIM2 100.00 0 ,
    TRPV4 100.00 0 ,
    WNK1 100.00 0 ,
    TBCK 100.00 0 ,
    PPOX 100.00 0 ,
    OPA1 100.00 0 ,
    ZFHX2 100.00 0 ,
    SH3TC2 100.00 0 ,
    IGHMBP2 100.00 0 ,
    DCTN2 100.00 0 ,
    GDAP1 100.00 0 ,
    GJB3 100.00 0 ,
    GLA 100.00 0 ,
    HEXB 100.00 0 ,
    HINT1 100.00 0 ,
    HMBS 100.00 0 ,
    HOXD10 100.00 0 ,
    HSPB8 100.00 0 ,
    LITAF 100.00 0 ,
    MPV17 100.00 0 ,
    MTRFR 100.00 0 ,
    NGF 100.00 0 ,
    OPA3 100.00 0 ,
    PLD3 100.00 0 ,
    PMP22 100.00 0 ,
    PNKP 100.00 0 ,
    PTRH2 100.00 0 ,
    RAB7A 100.00 0 ,
    SCO2 100.00 0 ,
    SIGMAR1 100.00 0 ,
    SLC52A2 100.00 0 ,
    VAPB 100.00 0 ,
  • Neuropathy (148 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 1 NM_001605.3
    ABHD12 100.00 1 NM_001042472.3
    AIFM1 100.00 1 NM_004208.4
    APTX 100.00 1 NM_001195248.2
    ARHGEF10 100.00 1 NM_014629.4
    ATL1 100.00 1 NM_015915.5
    ATP1A1 100.00 1 NM_000701.8
    ATP7A 100.00 1 NM_000052.7
    BICD2 100.00 1 NM_001003800.2
    BSCL2 100.00 1 NM_001122955.3
    MTRFR 100.00 1 NM_152269.5
    COX6A1 100.00 1 NM_004373.4
    CTDP1 100.00 1 NM_004715.5
    DCTN1 100.00 1 NM_004082.4
    DHTKD1 100.00 1 NM_018706.7
    DNAJB2 100.00 1 NM_006736.6
    DNM2 100.00 1 NM_001005361.3
    DNMT1 99.93 1 NM_001130823.3
    DST 100.00 1 NM_001144770.2
    DYNC1H1 100.00 1 NM_001376.5
    EGR2 100.00 1 NM_000399.5
    ELP1 100.00 1 NM_003640.5
    FBLN5 100.00 1 NM_006329.3
    FBXO38 100.00 1 NM_205836.3
    FGD4 100.00 1 NM_001304480.1
    FIG4 100.00 1 NM_014845.6
    GAN 100.00 1 NM_022041.3
    GARS1 100.00 1 NM_002047.4
    GDAP1 100.00 1 NM_018972.4
    GJB1 100.00 1 NM_000166.6
    GJB3 100.00 1 NM_024009.3
    GNB4 100.00 1 NM_021629.4
    HARS1 100.00 1 NM_002109.6
    HINT1 100.00 1 NM_005340.7
    HK1 100.00 1 NM_001358263.1
    HOXD10 100.00 1 NM_002148.4
    HSPB1 100.00 1 NM_001540.5
    HSPB3 100.00 1 NM_006308.3
    HSPB8 100.00 1 NM_014365.3
    IFRD1 100.00 1 NM_001007245.2
    IGHMBP2 100.00 1 NM_002180.3
    INF2 99.00 1 NM_022489.4
    KARS1 100.00 1 NM_001130089.1
    KIF1A 100.00 1 NM_001244008.1
    KIF1B 100.00 1 NM_015074.3
    KIF5A 100.00 1 NM_004984.4
    LITAF 100.00 1 NM_001136472.1
    LMNA 100.00 1 NM_170707.4
    LRSAM1 100.00 1 NM_001005373.3
    MARS1 100.00 1 NM_004990.4
    MED25 100.00 1 NM_030973.3
    MFN2 100.00 1 NM_014874.4
    MME 100.00 1 NM_007289.4
    MORC2 100.00 1 NM_001303256.3
    MPZ 100.00 1 NM_000530.8
    MTMR2 100.00 1 NM_016156.6
    MYH14 100.00 1 NM_001145809.2
    NAGLU 100.00 1 NM_000263.4
    NDRG1 100.00 1 NM_006096.4
    NEFH 100.00 1 NM_021076.4
    NEFL 100.00 1 NM_006158.5
    NGF 100.00 1 NM_002506.3
    NTRK1 100.00 1 NM_002529.3
    PDK3 100.00 1 NM_001142386.3
    PEX1 100.00 1 NM_000466.3
    PEX7 100.00 1 NM_000288.4
    PHYH 100.00 1 NM_006214.4
    PLEKHG5 100.00 1 NM_001265592.1
    PMP22 100.00 1 NM_000304.4
    POLG 100.00 1 NM_001126131.2
    PRDM12 98.36 1 NM_021619.3
    PRPS1 100.00 1 NM_002764.4
    PRX 100.00 1 NM_181882.3
    RAB7A 100.00 1 NM_004637.6
    REEP1 100.00 1 NM_001371279.1
    RETREG1 100.00 1 NM_001034850.2
    SBF1 100.00 1 NM_002972.4
    SBF2 100.00 1 NM_030962.3
    SCN11A 100.00 1 NM_001349253.2
    SCN9A 100.00 1 NM_001365536.1
    SCO2 100.00 1 NM_005138.3
    SETX 100.00 1 NM_015046.7
    SH3TC2 100.00 1 NM_024577.4
    SLC12A6 100.00 1 NM_001365088.1
    SLC5A7 100.00 1 NM_021815.5
    SOX10 100.00 1 NM_006941.4
    SPG11 100.00 1 NM_025137.4
    SPTLC1 100.00 1 NM_006415.4
    SPTLC2 100.00 1 NM_004863.3
    TDP1 100.00 1 NM_018319.4
    TECPR2 100.00 1 NM_014844.5
    TFG 100.00 1 NM_006070.6
    TRIM2 100.00 1 NM_015271.5
    TRPV4 100.00 1 NM_021625.5
    TTR 100.00 1 NM_000371.4
    TUBB3 100.00 1 NM_006086.4
    TYMP 100.00 1 NM_001257989.1
    VCP 100.00 1 NM_007126.5
    WNK1 100.00 1 NM_018979.4
    YARS1 100.00 1 NM_003680.3
    AAAS 100.00 1 NM_015665.6
    ALS2 100.00 1 NM_020919.4
    ANG 100.00 1 NM_001145.4
    ANXA11 100.00 1 NM_145868.2
    ATL3 100.00 1 NM_015459.5
    CNTNAP1 100.00 1 NM_003632.3
    COA8 100.00 1 NM_001370595.1
    COL4A1 100.00 1 NM_001845.6
    DCAF8 100.00 1 NM_015726.4
    DCX 100.00 1 NM_001195553.2
    ERBB4 100.00 1 NM_005235.3
    FUS 100.00 1 NM_004960.4
    GBF1 100.00 1 NM_004193.3
    GCH1 100.00 1 NM_000161.3
    GLA 100.00 1 NM_000169.3
    HTRA1 100.00 1 NM_002775.5
    KLC2 100.00 1 NM_001134775.1
    MATR3 100.00 1 NM_018834.6
    MCM3AP 100.00 1 NM_003906.5
    MPV17 100.00 1 NM_002437.5
    NEK1 100.00 1 NM_001199397.3
    NFASC 100.00 1 NM_001005388.2
    OPTN 100.00 1 NM_001008212.2
    PDXK 100.00 1 NM_003681.5
    PFN1 100.00 1 NM_005022.4
    PMP2 100.00 1 NM_002677.5
    PNKP 100.00 1 NM_007254.4
    PRPH 100.00 1 NM_006262.4
    PTRH2 100.00 1 NM_016077.5
    SCN10A 100.00 1 NM_006514.3
    SEPTIN9 100.00 1 NM_001113491.2
    SGPL1 100.00 1 NM_003901.4
    SIGMAR1 100.00 1 NM_005866.4
    SLC25A46 100.00 1 NM_138773.4
    SMN1 6.96 1 NM_000344.3
    SOD1 100.00 1 NM_000454.5
    SORD 94.98 1 NM_003104.6
    SQSTM1 100.00 1 NM_003900.5
    SURF1 100.00 1 NM_003172.4
    SYT2 100.00 1 NM_177402.5
    TARDBP 100.00 1 NM_007375.4
    TIA1 100.00 1 NM_022173.4
    TRPA1 100.00 1 NM_007332.3
    TUBA1A 100.00 1 NM_006009.4
    TUBA4A 100.00 1 NM_006000.3
    UBQLN2 100.00 1 NM_013444.3
    VAPB 100.00 1 NM_004738.5
    WARS1 100.00 1 NM_004184.4