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Autosomal recessive intermediate Charcot-Marie-Tooth disease type D

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Name:
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
Description:
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain.
ORPHAcode:
435998
Synonyms:
RI-CMT type D
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
COX6A1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • 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
  • Neuropathy (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 99.94 1
    ABCA1 99.92 1
    ABHD12 99.11 1
    ADPRS 100.00 1
    AGTPBP1 99.40 1
    AIFM1 99.43 1
    ARHGEF10 100.00 1
    ARSA 100.00 1
    ATL1 99.95 1
    ATL3 99.86 1
    ATM 99.83 1
    ATP1A1 99.94 1
    ATP7A 99.35 1
    B4GALNT1 99.95 1
    BAG3 100.00 1
    BICD2 100.00 1
    BSCL2 100.00 1
    CADM3 99.94 1
    CD59 99.97 1
    CFAP276 99.73 1
    CHCHD10 97.06 1
    CLTCL1 99.98 1
    CNTNAP1 99.80 1
    COA7 100.00 1
    COX20 99.40 1
    COX6A1 99.99 1
    CTDP1 98.02 1
    CTNNB1 99.98 1
    CYP27A1 99.96 1
    DARS2 99.86 1
    DCAF8 99.98 1
    DCTN1 99.95 1
    DGAT2 99.99 1
    DGUOK 99.76 1
    DHTKD1 99.88 1
    DNAJB2 100.00 1
    DNAJC3 99.58 1
    DNM2 99.96 1
    DNMT1 99.88 1
    DRP2 99.45 1
    DST 99.92 1
    DYNC1H1 99.97 1
    EGR2 100.00 1
    ELP1 99.96 1
    ETFDH 99.76 1
    FBLN5 92.79 1
    FBXO38 99.93 1
    FGD4 99.89 1
    FIG4 99.94 1
    FLVCR1 99.93 1
    FXN 97.92 1
    GALC 99.88 1
    GAN 99.84 1
    GARS1 99.86 1
    GBA2 99.97 1
    GBE1 99.84 1
    GBF1 99.95 1
    GDAP1 99.93 1
    GJB1 99.99 1
    GJB3 100.00 1
    GJC2 96.12 1
    GLA 99.64 1
    GNB4 99.95 1
    GSN 97.83 1
    HADHA 99.96 1
    HADHB 99.97 1
    HARS1 99.99 1
    HINT1 99.96 1
    HK1 96.86 1
    HNRNPA1 100.00 1
    HOXD10 100.00 1
    HSPB1 99.83 1
    HSPB3 100.00 1
    HSPB8 99.90 1
    IARS2 99.96 1
    IFRD1 99.96 1
    IGHMBP2 99.99 1
    INF2 97.15 1
    ITPR3 99.88 1
    JAG1 99.92 1
    KIF1A 99.96 1
    KIF5A 99.93 1
    LITAF 100.00 1
    LMNA 99.98 1
    LRSAM1 99.97 1
    LYST 99.92 1
    MCM3AP 99.96 1
    MFN2 99.96 1
    MMACHC 99.99 1
    MME 97.69 1
    MORC2 99.98 1
    MPV17 100.00 1
    MPZ 99.97 1
    MTMR2 99.98 1
    MTRFR 99.85 1
    MYH14 99.79 1
    NAGA 99.99 1
    NAGLU 98.00 1
    NARS1 99.74 1
    NDRG1 100.00 1
    NEFH 98.77 1
    NEFL 99.99 1
    NGF 99.99 1
    NTRK1 99.67 1
    PCYT2 97.60 1
    PDK3 98.86 1
    PEX7 99.87 1
    PHYH 99.65 1
    PIEZO2 99.88 1
    PLD3 99.99 1
    PLEKHG5 99.66 1
    PLP1 99.93 1
    PMM2 99.94 1
    PMP2 99.95 1
    PMP22 100.00 1
    PNKP 100.00 1
    PNPLA6 99.88 1
    POLG 99.98 1
    POLR3B 99.88 1
    PPOX 99.94 1
    PRDM12 99.60 1
    PRKCG 99.90 1
    PRNP 100.00 1
    PRPS1 99.79 1
    PRX 99.94 1
    PTEN 99.15 1
    PTPN11 99.91 1
    PTRH2 99.97 1
    RAB7A 99.94 1
    REEP1 99.99 1
    RETREG1 99.92 1
    RFC1 99.44 1
    SACS 99.98 1
    SBF1 99.97 1
    SBF2 99.92 1
    SCARB2 99.94 1
    SCN10A 99.97 1
    SCN11A 99.77 1
    SCN9A 99.96 1
    SCO2 100.00 1
    SCYL1 99.64 1
    SEPTIN9 99.94 1
    SETX 99.96 1
    SH3TC2 99.98 1
    SIGMAR1 99.99 1
    SLC12A6 99.88 1
    SLC25A19 99.99 1
    SLC25A46 99.93 1
    SLC52A2 100.00 1
    SLC52A3 100.00 1
    SLC5A7 99.97 1
    SORD 92.86 1
    SOX10 100.00 1
    SPAST 99.83 1
    SPG11 99.94 1
    SPG7 99.99 1
    SPTAN1 99.97 1
    SPTBN4 99.19 1
    SPTLC1 99.98 1
    SPTLC2 99.94 1
    SPTLC3 99.94 1
    SURF1 97.64 1
    SYT2 99.89 1
    TBCE 99.69 1
    TBCK 99.76 1
    TECPR2 99.90 1
    TFG 99.34 1
    TRIM2 99.99 1
    TRPV4 99.96 1
    TTPA 99.97 1
    TTR 100.00 1
    TUBB3 100.00 1
    TWNK 100.00 1
    UCHL1 99.99 1
    VAPB 99.94 1
    VCP 99.92 1
    VPS13A 99.60 1
    VRK1 99.94 1
    VWA1 91.35 1
    WARS1 99.79 1
    WNK1 99.94 1
    XRCC1 99.94 1
    YARS1 99.96 1
    ZFHX2 99.98 1
    ZFYVE26 99.96 1