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Charcot-Marie-Tooth disease type 2B5

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Name:
Charcot-Marie-Tooth disease type 2B5
Description:
A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.
ORPHAcode:
228374
Synonyms:
AR-CMT2B5
Autosomal recessive Charcot-Marie-Tooth disease type 2B5
SEOAN due to NEFL deficiency
Severe early-onset axonal neuropathy due to NEFL deficiency
Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
NEFL
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Inherited Peripheral Neuropathies gene panel (139 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 0 NM_001605.2
    ABCD1 100.00 0 NM_000033.3
    ABHD12 98.00 0 NM_001042472.2
    AGTPBP1 99.90 0 NM_001286715.1
    AIFM1 100.00 0 NM_004208.3
    APTX 99.00 0 NM_175073.2
    ARHGEF10 100.00 0 NM_014629.3
    ATL1 100.00 0 NM_015915.4
    ATL3 100.00 0 NM_015459.4
    ATP1A1 100.00 0 NM_000701.7
    ATP7A 100.00 0 NM_000052.6
    BAG3 100.00 0 NM_004281.3
    BICD2 100.00 0 NM_001003800.1
    BSCL2 100.00 0 NM_032667.6
    MTRFR 100.00 0 NM_152269.4
    CCT5 100.00 0 NM_012073.4
    CD59 100.00 0 NM_203330.2
    CNTNAP1 100.00 0 NM_003632.2
    COA7 100.00 0 NM_023077.2
    COX6A1 100.00 0 NM_004373.3
    CTDP1 98.90 0 NM_004715.4
    DCAF8 100.00 0 NM_015726.3
    DCTN1 100.00 0 NM_004082.4
    DGAT2 100.00 0 NM_032564.4
    DHTKD1 99.90 0 NM_018706.6
    DNAJB2 100.00 0 NM_001039550.1
    DNM2 100.00 0 NM_001005360.2
    DNMT1 99.50 0 NM_001130823.2
    DRP2 100.00 0 NM_001939.2
    DST 100.00 0 NM_001723.5
    DYNC1H1 100.00 0 NM_001376.4
    EGR2 100.00 0 NM_000399.4
    ELP1 100.00 0 NM_003640.4
    FBLN5 100.00 0 NM_006329.3
    FBXO38 100.00 0 NM_030793.4
    FGD4 100.00 0 NM_139241.3
    FIG4 100.00 0 NM_014845.5
    FLVCR1 100.00 0 NM_014053.3
    GAN 100.00 0 NM_022041.3
    GARS1 100.00 0 NM_002047.3
    GDAP1 100.00 0 NM_018972.3
    GJB1 100.00 0 NM_000166.5
    GJB3 100.00 0 NM_024009.2
    GLA 100.00 0 NM_000169.2
    GNB4 100.00 0 NM_021629.3
    HADHA 100.00 0 NM_000182.4
    HADHB 100.00 0 NM_000183.2
    HARS1 100.00 0 NM_002109.5
    HINT1 100.00 0 NM_005340.6
    HK1 100.00 0 NM_000188.2
    HOXD10 100.00 0 NM_002148.3
    HSPB1 99.00 0 NM_001540.4
    HSPB3 100.00 0 NM_006308.2
    HSPB8 100.00 0 NM_014365.2
    IARS2 100.00 0 NM_018060.3
    IFRD1 99.90 0 NM_001550.3
    IGHMBP2 100.00 0 NM_002180.2
    INF2 98.80 0 NM_022489.3
    ITPR3 99.50 0 NM_002224.3
    KARS1 100.00 0 NM_001130089.1
    KIF1A 99.90 0 NM_004321.7
    KIF1B 100.00 0 NM_015074.3
    KIF5A 100.00 0 NM_004984.3
    KLHL13 100.00 0 NM_033495.3
    LITAF 100.00 0 NM_004862.3
    LMNA 99.90 0 NM_170707.3
    LRSAM1 100.00 0 NM_138361.5
    MARS1 100.00 0 NM_004990.3
    MCM3AP 100.00 0 NM_003906.4
    MED25 100.00 0 NM_030973.3
    MFN2 100.00 0 NM_014874.3
    MME 100.00 0 NM_007289.3
    MORC2 100.00 0 NM_001303256.2
    MPV17 100.00 0 NM_002437.4
    MPZ 100.00 0 NM_000530.7
    MTMR2 100.00 0 NM_016156.5
    MYH7B 99.80 0 NM_024729.3
    NAGLU 99.70 0 NM_000263.3
    NDRG1 100.00 0 NM_006096.3
    NEFH 99.50 0 NM_021076.3
    NEFL 99.60 0 NM_006158.4
    NGF 100.00 0 NM_002506.2
    NTRK1 100.00 0 NM_001012331.1
    MED12 100.00 0 NM_015560.2
    OPA3 100.00 0 NM_025136.3
    PDK3 100.00 0 NM_001142386.2
    PDXK 100.00 0 NM_003681.4
    PEX1 100.00 0 NM_000466.2
    PEX7 100.00 0 NM_000288.3
    PHYH 100.00 0 NM_006214.3
    PLEKHG5 99.80 0 NM_020631.4
    PMP2 100.00 0 NM_002677.4
    PMP22 100.00 0 NM_000304.3
    PNKP 99.80 0 NM_007254.3
    POLG 100.00 0 NM_002693.2
    PRDM12 90.30 0 NM_021619.2
    PRNP 100.00 0 NM_000311.4
    PRPS1 100.00 0 NM_002764.3
    PRX 100.00 0 NM_181882.2
    RAB7A 100.00 0 NM_004637.5
    REEP1 100.00 0 NM_022912.2
    RETREG1 99.40 0 NM_001034850.2
    SBF1 99.70 0 NM_002972.3
    SBF2 100.00 0 NM_030962.3
    SCN10A 100.00 0 NM_006514.3
    SCN11A 99.80 0 NM_014139.2
    SCN9A 100.00 0 NM_002977.3
    SCO2 100.00 0 NM_005138.2
    SCP2 100.00 0 NM_002979.4
    SEPTIN9 99.20 0 NM_006640.4
    SETX 100.00 0 NM_015046.6
    SGPL1 100.00 0 NM_003901.3
    SH3BP4 100.00 0 NM_014521.2
    SH3TC2 100.00 0 NM_024577.3
    SIGMAR1 100.00 0 NM_005866.3
    SLC12A6 100.00 0 NM_133647.1
    SLC25A46 100.00 0 NM_138773.3
    SLC5A7 100.00 0 NM_021815.4
    SORD 91.20 0 NM_003104.5
    SOX10 100.00 0 NM_006941.3
    SPG11 100.00 0 NM_025137.3
    SPTLC1 100.00 0 NM_006415.3
    SPTLC2 100.00 0 NM_004863.3
    SURF1 99.00 0 NM_003172.3
    TDP1 100.00 0 NM_018319.3
    TECPR2 100.00 0 NM_014844.4
    TFG 100.00 0 NM_006070.5
    TRIM2 100.00 0 NM_001130067.1
    TRPA1 100.00 0 NM_007332.2
    TRPV4 99.90 0 NM_021625.4
    TTR 100.00 0 NM_000371.3
    TUBB3 100.00 0 NM_006086.3
    TWNK 100.00 0 NM_021830.4
    TYMP 100.00 0 NM_001953.4
    VCP 99.90 0 NM_007126.4
    VRK1 100.00 0 NM_003384.2
    WARS1 99.80 0 NM_004184.3
    WNK1 99.80 0 NM_018979.3
    YARS1 100.00 0 NM_003680.3
  • 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