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Epidermolysis bullosa simplex with muscular dystrophy

Disease Export to PDF
Name:
Epidermolysis bullosa simplex with muscular dystrophy
Description:
A form of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.
ORPHAcode:
257
Synonyms:
EBS with muscular dystrophy
EBS-MD
Limb-girdle muscular dystrophy with epidermolysis bullosa simplex
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
PLEC
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Neuromuscular disorders (166 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACADVL 0.00 0 No value for column 2
    ACTA1 0.00 0 No value for column 2
    AGRN 0.00 0 No value for column 2
    ALDOA 0.00 0 No value for column 2
    ALG14 0.00 0 No value for column 2
    ALG2 99.94 0 No comment
    ALS2 100.00 0 No comment
    ANG 100.00 0 No comment
    ANO5 100.00 0 No comment
    ASAH1 99.94 0 No comment
    ATP7A 100.00 0 No comment
    ATXN2 89.10 0 No comment
    B3GALNT2 85.88 0 No comment
    B4GAT1 100.00 0 No comment
    BAG3 100.00 0 No comment
    BICD2 100.00 0 No comment
    BIN1 100.00 0 No comment
    BSCL2 100.00 0 No comment
    C9ORF72 100.00 0 No comment
    CAV3 100.00 0 No comment
    CFL2 99.75 0 No comment
    CHAT 100.00 0 No comment
    CHKB 99.69 0 No comment
    CHRNA1 100.00 0 No comment
    CHRNB1 100.00 0 No comment
    CHRND 100.00 0 No comment
    CHRNE 100.00 0 No comment
    CHRNG 100.00 0 No comment
    COL6A1 100.00 0 No comment
    COL6A2 100.00 0 No comment
    COL6A3 100.00 0 No comment
    COLQ 100.00 0 No comment
    CPT2 98.71 0 No comment
    CRPPA 95.75 0 No comment
    CRYAB 100.00 0 No comment
    DAG1 100.00 0 No comment
    DAO 100.00 0 No comment
    DCTN1 100.00 0 No comment
    DES 100.00 0 No comment
    DGUOK 100.00 0 No comment
    DMD 100.00 0 No comment
    DNAJB2 100.00 0 No comment
    DNAJB6 99.34 0 No comment
    DNM2 99.95 0 No comment
    DOK7 98.77 0 No comment
    DOLK 100.00 0 No comment
    DPAGT1 100.00 0 No comment
    DPM1 100.00 0 No comment
    DPM2 100.00 0 No comment
    DPM3 100.00 0 No comment
    DYNC1H1 100.00 0 No comment
    DYSF 100.00 0 No comment
    ECEL1 95.92 0 No comment
    EMD 99.84 0 No comment
    ENO3 100.00 0 No comment
    ETFA 100.00 0 No comment
    ETFB 100.00 0 No comment
    ETFDH 100.00 0 No comment
    EXOSC3 100.00 0 No comment
    FBLN5 100.00 0 No comment
    FBXO38 100.00 0 No comment
    FDX2 100.00 0 No comment
    CFH 100.00 0 No comment
    FKRP 98.68 0 No comment
    FKTN 100.00 0 No comment
    FLNC 100.00 0 No comment
    FUS 100.00 0 No comment
    GAA 100.00 0 No comment
    GARS1 99.53 0 No comment
    GFPT1 99.98 0 No comment
    GLE1 100.00 0 No comment
    GMPPB 100.00 0 No comment
    GNE 100.00 0 No comment
    GRN 100.00 0 No comment
    HADHA 100.00 0 No comment
    HADHB 100.00 0 No comment
    HARS1 100.00 0 No comment
    HEXB 99.82 0 No comment
    HNRNPA1 99.61 0 No comment
    HNRNPA2B1 100.00 0 No comment
    HSPB1 100.00 0 No comment
    HSPB3 100.00 0 No comment
    HSPB8 100.00 0 No comment
    IGHMBP2 100.00 0 No comment
    ISCU 99.39 0 No comment
    KBTBD13 97.91 0 No comment
    KLHL40 100.00 0 No comment
    KLHL9 100.00 0 No comment
    LAMA2 100.00 0 No comment
    LAMB2 100.00 0 No comment
    LARGE1 100.00 0 No comment
    LAS1L 100.00 0 No comment
    LDB3 100.00 0 No comment
    LMNA 99.93 0 No comment
    LPIN1 100.00 0 No comment
    CORIN 98.90 0 No comment
    MATR3 100.00 0 No comment
    MEGF10 100.00 0 No comment
    MTM1 100.00 0 No comment
    MUSK 100.00 0 No comment
    MYBPC3 100.00 0 No comment
    MYH7B 100.00 0 No comment
    MYH3 100.00 0 No comment
    MYH7 100.00 0 No comment
    MYH8 100.00 0 No comment
    MYOT 100.00 0 No comment
    NEB 99.99 0 No comment
    NEFH 84.73 0 No comment
    OPTN 100.00 0 No comment
    PABPN1 91.84 0 No comment
    PFKM 100.00 0 No comment
    PFN1 100.00 0 No comment
    PGAM2 100.00 0 No comment
    PGK1 100.00 0 No comment
    PGM1 100.00 0 No comment
    PHKA1 100.00 0 No comment
    PHKB 100.00 0 No comment
    PLEC 99.82 0 No comment
    PLEKHG5 99.10 0 No comment
    POLG 100.00 0 No comment
    POMGNT1 100.00 0 No comment
    POMGNT2 100.00 0 No comment
    POMK 100.00 0 No comment
    POMT1 100.00 0 No comment
    POMT2 99.90 0 No comment
    PREPL 100.00 0 No comment
    PYGM 100.00 0 No comment
    QDPR 99.04 0 No comment
    RAPSN 100.00 0 No comment
    REEP1 97.37 0 No comment
    RXYLT1 99.84 0 No comment
    RYR1 98.38 0 No comment
    SCN4A 100.00 0 No comment
    SELENON 84.04 0 No comment
    SETX 100.00 0 No comment
    SIGMAR1 96.60 0 No comment
    SIL1 100.00 0 No comment
    SLC18A3 100.00 0 No comment
    SLC52A2 100.00 0 No comment
    SLC52A3 100.00 0 No comment
    SLC5A7 100.00 0 No comment
    SMN1 96.55 0 No comment
    SNAP25 100.00 0 No comment
    SOD1 100.00 0 No comment
    SQSTM1 93.68 0 No comment
    SYT2 100.00 0 No comment
    TAF15 100.00 0 No comment
    TARDBP 100.00 0 No comment
    TFG 100.00 0 No comment
    TIA1 100.00 0 No comment
    TNNI2 100.00 0 No comment
    TNNT1 98.58 0 No comment
    TNNT3 100.00 0 No comment
    TNPO3 100.00 0 No comment
    TPM2 100.00 0 No comment
    TPM3 99.55 0 No comment
    TRPV4 100.00 0 No comment
    TSEN54 94.23 0 No comment
    TTN 100.00 0 No comment
    UBA1 100.00 0 No comment
    UBQLN2 99.88 0 No comment
    UNC13A 99.87 0 No comment
    VAPB 100.00 0 No comment
    VCP 98.45 0 No comment
    VEGFA 98.73 0 No comment
    VRK1 100.00 0 No comment