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Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

Disease Export to PDF
Name:
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Description:
A rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.
ORPHAcode:
320385
Synonyms:
Autosomal recessive spastic paraplegia type 49
HSAN due to TECPR2 mutation
SPG49
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
TECPR2
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
  • Spastic Paraplegia (89 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ALS2 100.00 1 NM_020919.4
    AMPD2 100.00 1 NM_001368809.2
    AP4B1 100.00 1 NM_001253852.3
    AP4E1 100.00 1 NM_007347.5
    AP4M1 100.00 1 NM_004722.4
    AP4S1 100.00 1 NM_001128126.3
    AP5Z1 100.00 1 NM_014855.3
    ARL6IP1 100.00 1 NM_015161.3
    ARSI 100.00 1 NM_001012301.4
    ATL1 100.00 1 NM_015915.5
    B4GALNT1 100.00 1 NM_001478.5
    BICD2 100.00 1 NM_001003800.2
    BSCL2 100.00 1 NM_001122955.3
    MTRFR 100.00 1 NM_152269.5
    C19ORF12 100.00 1 NM_031448.6
    CCT5 100.00 1 NM_012073.5
    CYP2U1 100.00 1 NM_183075.3
    CYP7B1 100.00 1 NM_004820.5
    DDHD1 100.00 1 NM_001160148.2
    DDHD2 100.00 1 NM_015214.3
    ENTPD1 100.00 1 NM_001776.6
    ERLIN1 100.00 1 NM_006459.4
    ERLIN2 100.00 1 NM_007175.8
    FA2H 100.00 1 NM_024306.5
    FLRT1 100.00 1 NM_013280.4
    GAD1 100.00 1 NM_000817.3
    GBA2 100.00 1 NM_020944.3
    GJA1 100.00 1 NM_000165.5
    GJC2 100.00 1 NM_020435.4
    HSPD1 100.00 1 NM_002156.5
    KIF1A 100.00 1 NM_001244008.1
    KIF1C 100.00 1 NM_006612.6
    KIF5A 100.00 1 NM_004984.4
    L1CAM 100.00 1 NM_001278116.2
    MAG 100.00 1 NM_002361.4
    MARS1 100.00 1 NM_004990.4
    NIPA1 100.00 1 NM_144599.5
    NT5C2 100.00 1 NM_001351169.2
    PGAP1 100.00 1 NM_024989.4
    PLP1 100.00 1 NM_000533.5
    PNPLA6 100.00 1 NM_001166111.2
    RAB3GAP2 100.00 1 NM_012414.4
    REEP1 100.00 1 NM_001371279.1
    REEP2 100.00 1 NM_001271803.2
    RTN2 100.00 1 NM_005619.5
    SACS 100.00 1 NM_014363.6
    SETX 100.00 1 NM_015046.7
    SLC16A2 100.00 1 NM_006517.5
    SLC33A1 100.00 1 NM_004733.4
    SPART 100.00 1 NM_015087.5
    SPAST 100.00 1 NM_014946.3
    SPG11 100.00 1 NM_025137.4
    SPG21 100.00 1 NM_016630.7
    SPG7 100.00 1 NM_003119.4
    TECPR2 100.00 1 NM_014844.5
    TFG 100.00 1 NM_006070.6
    USP8 100.00 1 NM_005154.5
    VCP 100.00 1 NM_007126.5
    VPS37A 100.00 1 NM_152415.3
    WASHC5 100.00 1 NM_014846.4
    WDR48 100.00 1 NM_020839.4
    ZFR 100.00 1 NM_016107.5
    ZFYVE26 100.00 1 NM_015346.4
    ADAR 100.00 1 NM_001111.5
    AFG3L2 100.00 1 NM_006796.3
    ALDH18A1 100.00 1 NM_002860.4
    ALDH3A2 100.00 1 NM_000382.3
    ATXN1 100.00 1 NM_000332.3
    CAPN1 100.00 1 NM_005186.4
    COA8 100.00 1 NM_001370595.1
    CPT1C 100.00 1 NM_001199753.1
    CYP27A1 100.00 1 NM_000784.4
    DSTYK 100.00 1 NM_015375.3
    FARS2 100.00 1 NM_006567.5
    GFAP 100.00 1 NM_002055.5
    GLRX5 100.00 1 NM_016417.3
    HACE1 100.00 1 NM_020771.4
    IBA57 100.00 1 NM_001010867.4
    ITPR1 100.00 1 NM_001168272.1
    KIDINS220 100.00 1 NM_020738.4
    KLC2 100.00 1 NM_001134775.1
    KLC4 100.00 1 NM_201521.3
    PCYT2 100.00 1 NM_002861.5
    RAB18 100.00 1 NM_021252.5
    RAB3GAP1 100.00 1 NM_012233.3
    TBC1D20 100.00 1 NM_144628.4
    UBAP1 100.00 1 NM_016525.5
    UCHL1 100.00 1 NM_004181.5
    ZFYVE27 100.00 1 NM_001002261.3