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  2. TECRL

TECRL

Analyte Export to PDF
Name:
trans-2,3-enoyl-CoA reductase like
Symbol:
TECRL
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
DKFZp313B2333
DKFZp313D0829
GPSN2L
SRD5A2L2
TERL
glycoprotein, synaptic 2-like
XREF(s):
Orphanet
HGNC
OMIM
SwissProt
Reactome
Ensembl
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Cardiopathies, hereditary (102 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC9 95.00 0 NM_005691.4 / interpretable range CS1>95%
    ACTC1 95.00 0 NM_005159.5 / interpretable range CS1>95%
    ACTN2 95.00 0 NM_001103.4 / nterpretable range CS1>95%
    AKAP9 95.00 0 NM_005751.5 /interpretable range CS1>95%
    ANK2 95.00 0 NM_001148.6 / interpretable range CS1>95%
    ANKRD1 95.00 0 NM_014391.3 / interpretable range CS1>95%
    BAG3 95.00 0 NM_004281.4 / interpretable range CS1>95%
    CACNA1C 95.00 0 NM_000719.7 / interpretable range CS1>95%
    CACNA1D 95.00 0 NM_000720.4 / interpretable range CS1>95%
    CACNA2D1 95.00 0 NM_000722.4 / interpretable range CS1>95%
    CACNB2 95.00 0 NM_201590.3 / interpretable range CS1>95%
    CALM1 95.00 0 NM_006888.6 / interpretable range CS1>95%
    CALM2 95.00 0 NM_001743.6 / interpretable range CS1>95%
    CALM3 95.00 0 NM_005184.4 / interpretable range CS1>95%
    CALR3 95.00 0 NM_145046.5 / interpretable range CS1>95%
    CASQ2 95.00 0 NM_001232.4 / interpretable range CS1>95%
    CAV3 95.00 0 NM_033337.3 / interpretable range CS1>95%
    CDH2 95.00 0 NM_001792.5 / interpretable range CS1>95%
    CRYAB 95.00 0 NM_001885.3 / interpretable range CS1>95%
    CSRP3 95.00 0 NM_003476.5 / interpretable range CS1>95%
    CTNNA3 95.00 0 NM_013266.4 / interpretable range CS1>95%
    DES 95.00 0 NM_001927.4 / interpretable range CS1>95%
    DSC3 95.00 0 NM_024422.6 / interpretable range CS1>95%
    DSG2 95.00 0 NM_001943.5 / interpretable range CS1>95%
    DSP 95.00 0 NM_004415.4 / interpretable range CS1>95%
    DTNA 95.00 0 NM_001390.4 / interpretable range CS1>95%
    CFH 95.00 0 NM_001449.5 / interpretable range CS1>95%
    FHOD3 95.00 0 NM_025135.5 / interpretable range CS1>95%
    FKTN 95.00 0 NM_001079802.2 / interpretable range CS1>95%
    FLNC 95.00 0 NM_001458.5 / interpretable range CS1>95%
    GJA5 95.00 0 NM_005266.7 / interpretable range CS1>95%
    GLA 95.00 0 NM_000169.3 / interpretable range CS1>95%
    GPD1L 95.00 0 NM_015141.4 / interpretable range CS1>95%
    HCN4 95.00 0 NM_005477.3 / interpretable range CS1>95%
    JPH2 95.00 0 NM_020433.5 / interpretable range CS1>95%
    JUP 95.00 0 NM_002230.4 / interpretable range CS1>95%
    KCNA5 95.00 0 NM_002234.4 / interpretable range CS1>95%
    KCND2 95.00 0 NM_012281.3 / interpretable range CS1>95%
    KCND3 95.00 0 NM_004980.5 / interpretable range CS1>95%
    KCNE1 95.00 0 NM_000219.6 / interpretable range CS1>95%
    KCNE2 95.00 0 NM_172201.2 / interpretable range CS1>95%
    KCNE3 95.00 0 NM_005472.5 / interpretable range CS1>95%
    KCNE5 95.00 0 NM_012282.4 / interpretable range CS1>95%
    KCNH2 95.00 0 NM_000238.4 / interpretable range CS1>95%
    KCNJ2 95.00 0 NM_000891.3 / interpretable range CS1>95%
    KCNJ5 95.00 0 NM_000890.5 / interpretable range CS1>95%
    KCNJ8 95.00 0 NM_004982.4 / interpretable range CS1>95%
    KCNQ1 95.00 0 NM_000218.3 / interpretable range CS1>95%
    LAMA4 95.00 0 NM_002290.5 / interpretable range CS1>95%
    LAMP2 95.00 0 NM_002294.3 / interpretable range CS1>95%
    LDB3 95.00 0 NM_001080116.1 / interpretable range CS1>95%
    LMNA 95.00 0 NM_170707.4 / interpretable range CS1>95%
    MIB1 95.00 0 NM_020774.4 / interpretable range CS1>95%
    MYBPC3 95.00 0 NM_000256.3 / interpretable range CS1>95% / MLPA only in de frame of "Familial hypertrophic cardiomyopathy"
    MYH6 95.00 0 NM_002471.4 / interpretable range CS1>95%
    MYH7 95.00 0 NM_000257.4 / interpretable range CS1>95%
    MYL2 95.00 0 NM_000432.4 / interpretable range CS1>95%
    MYL3 95.00 0 NM_000258.3 / interpretable range CS1>95%
    MYLK2 95.00 0 NM_033118.4 / interpretable range CS1>95%
    MYOZ2 95.00 0 NM_016599.5 / interpretable range CS1>95%
    MYPN 95.00 0 NM_032578.4 / interpretable range CS1>95%
    NEXN 95.00 0 NM_144573.4 / interpretable range CS1>95%
    NKX2-5 95.00 0 NM_004387.4 / interpretable range CS1>95%
    NOS1AP 95.00 0 NM_014697.3 / interpretable range CS1>95%
    NPPA 95.00 0 NM_006172.4 / interpretable range CS1>95%
    NUP155 95.00 0 NM_153485.3 / interpretable range CS1>95%
    PITX2 95.00 0 NM_153427.2 / interpretable range CS1>95%
    PKP2 95.00 0 NM_004572.4 / interpretable range CS1>95%
    PLN 95.00 0 NM_002667.5 / interpretable range CS1>95%
    PRKAG2 95.00 0 NM_016203.4 / interpretable range CS1>95%
    RBM20 95.00 0 NM_001134363.3 / interpretable range CS1>95%
    RYR2 95.00 0 NM_001035.3 / interpretable range CS1>95%
    SLC4A3 95.00 0 NM_201574.2 / interpretable range CS1>95%
    SCN10A 95.00 0 NM_006514.4 / interpretable range CS1>95%
    SCN1B 95.00 0 NM_001037.5 / interpretable range CS1>95%
    SCN2B 95.00 0 NM_004588.5 / interpretable range CS1>95%
    SCN3B 95.00 0 NM_018400.4 / interpretable range CS1>95%
    SCN4B 95.00 0 NM_174934.4 / interpretable range CS1>95%
    SCN5A 95.00 0 NM_198056.3 / interpretable range CS1>95%
    SEMA3A 95.00 0 NM_006080.3 / interpretable range CS1>95%
    SGCD 95.00 0 NM_000337.6 / interpretable range CS1>95%
    SNTA1 95.00 0 NM_003098.3 / interpretable range CS1>95%
    WWTR1 95.00 0 NM_000116.5 / interpretable range CS1>95%
    TBX20 95.00 0 NM_001077653.2 / interpretable range CS1>95%
    TCAP 95.00 0 NM_003673.4 / interpretable range CS1>95%
    TECRL 95.00 0 NM_001010874.5 / interpretable range CS1>95%
    TGFB3 95.00 0 NM_003239.5 / interpretable range CS1>95%
    TJP1 95.00 0 NM_003257.5 / interpretable range CS1>95%
    TMEM43 95.00 0 NM_024334.3 / interpretable range CS1>95%
    TMPO 95.00 0 NM_003276.2 / interpretable range CS1>95%
    TNNI3 95.00 0 NM_000363.5 / interpretable range CS1>95%
    TNNI3K 95.00 0 NM_015978.3 / interpretable range CS1>95%
    TNNT2 95.00 0 NM_001001430.3 / interpretable range CS1>95%
    TPM1 95.00 0 NM_001018005.2 / interpretable range CS1>95%
    TRDN 95.00 0 NM_006073.4 / interpretable range CS1>95%
    TRIM63 95.00 0 NM_032588.4 / interpretable range CS1>95%
    TRPM4 95.00 0 NM_017636.4 / interpretable range CS1>95%
    TTN 95.00 0 NM_001267550.1 / interpretable range CS1>95%
    TTR 95.00 0 NM_000371.4 / interpretable range CS1>95%
    TXNRD2 95.00 0 NM_006440.5 / interpretable range CS1>95%
    VCL 95.00 0 NM_014000.3 / interpretable range CS1>95%
  • Catecholaminergic polymorphic ventricular tachycardia (CPVT) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    CASQ2 100.00 1
    RYR2 100.00 1
    TRDN 100.00 1
    TECRL 100.00 1
    CALM1 100.00 1
    CALM2 100.00 1
    CALM3 100.00 1
  • Inherited cardiac arrhytmia (25 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AKAP9 100.00 1 NM_005751.4
    ANK2 100.00 1 NM_001148.6
    CACNA1C 100.00 1 NM_000719.7
    CALM1 100.00 1 NM_006888.6
    CALM2 100.00 1 NM_001743.6
    CASQ2 100.00 1 NM_001232.3
    CAV3 100.00 1 NM_033337.3
    KCNE1 100.00 1 NM_000219.6
    KCNE2 100.00 1 NM_172201.1
    KCNH2 100.00 1 NM_000238.4
    KCNJ2 100.00 1 NM_000891.3
    KCNJ5 100.00 1 NM_000890.5
    KCNQ1 100.00 1 NM_000218.3
    RYR2 100.00 1 NM_001035.3
    SCN4B 100.00 1 NM_174934.3
    SCN5A 100.00 1 NM_000335.5
    SNTA1 100.00 1 NM_003098.3
    TRDN 100.00 1 NM_006073.4
    ABCC9 100.00 1 NM_020297.3
    ALG10B 100.00 1 NM_001013620.4
    CACNA2D1 100.00 1 NM_000722.4
    CACNB2 100.00 1 NM_201596.3
    CALM3 100.00 1 NM_005184.4
    SLC4A3 100.00 1 NM_005070.4
    TECRL 100.00 1 NM_001010874.5
  • Primary Electrical disorders/Brugada syndrome (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCB4 100.00 0
    ABCC9 100.00 0
    ACTN2 100.00 0
    AKAP9 100.00 0
    ANK2 100.00 0
    CACNA1C 100.00 0
    CACNA2D1 100.00 0
    CACNB2 100.00 0
    CALM1 100.00 0
    CALM2 100.00 0
    CALM3 100.00 0
    CASQ2 100.00 0
    CAV3 100.00 0
    CTNNA3 100.00 0
    DES 100.00 0
    DPP6 100.00 0
    DSC2 100.00 0
    DSG2 100.00 0
    DSP 100.00 0
    GJA1 100.00 0
    GJA5 100.00 0
    GNB5 100.00 0
    GPD1L 100.00 0
    HCN4 100.00 0
    JUP 100.00 0
    KCNA5 100.00 0
    KCND3 100.00 0
    KCNE1 100.00 0
    KCNE2 100.00 0
    KCNE3 100.00 0
    KCNE5 100.00 0
    KCNH2 100.00 0
    KCNJ2 100.00 0
    KCNJ5 100.00 0
    KCNJ8 100.00 0
    KCNK17 100.00 0
    KCNQ1 100.00 0
    LMNA 100.00 0
    NKX2-5 100.00 0
    NOS1AP 100.00 0
    NPPA 100.00 0
    PKP2 100.00 0
    PLN 100.00 0
    PPA2 100.00 0
    PRKAG2 100.00 0
    RANGRF 100.00 0
    RRAD 100.00 0
    RYR2 100.00 0
    SCN1B 100.00 0
    SCN2B 100.00 0
    SCN3B 100.00 0
    SCN4B 100.00 0
    SCN5A 100.00 0
    SCN10A 100.00 0
    SLMAP 100.00 0
    SNTA1 100.00 0
    TGFB3 100.00 0
    TMEM43 100.00 0
    TRDN 100.00 0
    TRPM4 100.00 0
    CDH2 100.00 0
    CLCA2 100.00 0
    FLNC 100.00 0
    GNB2 100.00 0
    MYL3 100.00 0
    MYL4 100.00 0
    RBM20 100.00 0
    RNF207 100.00 0
    SLC4A3 100.00 0
    TANGO2 100.00 0
    TECRL 100.00 0
    TNNI3K 100.00 0
    TTN 100.00 0