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Hypokalemic periodic paralysis

Disease Export to PDF
Name:
Hypokalemic periodic paralysis
Description:
A rare genetic, muscle channelopathy characterized by recurrent episodic attacks of generalized muscle weakness associated with a decrease in blood potassium levels.
ORPHAcode:
681
Synonyms:
Westphall disease
XREF(s):
Orphanet
MeSH
ICD-10
OMIM
OMIM
Analyte(s):
SCN4A
CACNA1S
KCNE3
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Primary cardiac arrhythmias (113 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC9 100.00 0 No comment
    ACTN2 100.00 0 No comment
    ADRB1 78.34 0 No comment
    ADRB2 100.00 0 No comment
    AGTR1 100.00 0 No comment
    AGXT2 100.00 0 No comment
    AKAP9 100.00 0 No comment
    ALG10B 100.00 0 No comment
    ANK2 100.00 0 No comment
    BAG3 100.00 0 No comment
    CACNA1C 100.00 0 No comment
    CACNA2D1 100.00 0 No comment
    CACNA2D4 99.99 0 No comment
    CACNB2 100.00 0 No comment
    CALM1 100.00 0 No comment
    CALM2 100.00 0 No comment
    CALM3 99.99 0 No comment
    CASQ2 100.00 0 No comment
    CAV3 100.00 0 No comment
    CIT 100.00 0 No comment
    CKMT2 100.00 0 No comment
    CRP 100.00 0 No comment
    CSRP3 100.00 0 No comment
    CTNNA3 100.00 0 No comment
    DEPDC5 99.62 0 No comment
    DPP6 96.95 0 No comment
    DSC3 98.44 0 No comment
    DSG2 99.61 0 No comment
    DSP 100.00 0 No comment
    EMD 99.84 0 No comment
    FGF12 100.00 0 No comment
    GATA4 80.69 0 No comment
    GATA5 97.28 0 No comment
    GATA6 81.11 0 No comment
    GJA5 100.00 0 No comment
    GPD1L 100.00 0 No comment
    HCN4 92.35 0 No comment
    HSPA1L 100.00 0 No comment
    JPH2 95.10 0 No comment
    JUP 100.00 0 No comment
    KCNA5 100.00 0 No comment
    KCNAB2 100.00 0 No comment
    KCNB2 100.00 0 No comment
    KCND3 100.00 0 No comment
    KCNE1 100.00 0 No comment
    KCNE2 100.00 0 No comment
    KCNE3 100.00 0 No comment
    KCNE4 100.00 0 No comment
    KCNE5 94.02 0 No comment
    KCNH2 94.44 0 No comment
    KCNJ16 100.00 0 No comment
    KCNJ2 100.00 0 No comment
    KCNJ5 100.00 0 No comment
    KCNJ8 100.00 0 No comment
    KCNK17 100.00 0 No comment
    KCNK3 95.81 0 No comment
    KCNQ1 91.07 0 No comment
    KCNT1 99.74 0 No comment
    KIF21B 100.00 0 No comment
    LMNA 99.93 0 No comment
    MYBPC3 100.00 0 No comment
    MYH6 100.00 0 No comment
    MYH7 100.00 0 No comment
    MYL4 100.00 0 No comment
    NAA10 96.03 0 No comment
    NKX2-5 100.00 0 No comment
    NKX2-6 100.00 0 No comment
    NOS1AP 100.00 0 No comment
    NPPA 100.00 0 No comment
    NUP155 100.00 0 No comment
    NUP37 100.00 0 No comment
    PI4KA 99.44 0 No comment
    PIK3CG 100.00 0 No comment
    PITX2 100.00 0 No comment
    PKP2 99.87 0 No comment
    PLN 100.00 0 No comment
    PRRX1 100.00 0 No comment
    RANGRF 100.00 0 No comment
    RBM20 99.82 0 No comment
    REM2 100.00 0 No comment
    RIMS1 99.79 0 No comment
    RNF207 99.91 0 No comment
    RYR1 98.38 0 No comment
    RYR2 100.00 0 No comment
    SCN10A 100.00 0 No comment
    SCN1B 94.12 0 No comment
    SCN2B 100.00 0 No comment
    SCN3B 100.00 0 No comment
    SCN4A 100.00 0 No comment
    SCN4B 100.00 0 No comment
    SCN5A 100.00 0 No comment
    SCNN1A 100.00 0 No comment
    SDHAF3 100.00 0 No comment
    SEMA3A 100.00 0 No comment
    SHOX2 99.15 0 No comment
    SIRT6 100.00 0 No comment
    SLC2A5 99.60 0 No comment
    SLC4A3 100.00 0 No comment
    SLMAP 100.00 0 No comment
    SNTA1 84.25 0 No comment
    TBX5 100.00 0 No comment
    TGFB2 100.00 0 No comment
    DDR2 97.72 0 No comment
    TNNI3 100.00 0 No comment
    TPM1 99.98 0 No comment
    TRDN 100.00 0 No comment
    TRPM4 100.00 0 No comment
    TTN 100.00 0 No comment
    UBR4 99.99 0 No comment
    UBR5 100.00 0 No comment
    WDR26 100.00 0 No comment
    XIRP1 100.00 0 No comment
    ZC3HC1 100.00 0 No comment