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Congenital myasthenic syndromes with glycosylation defect

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Name:
Congenital myasthenic syndromes with glycosylation defect
ORPHAcode:
353327
XREF(s):
Orphanet
OMIM
OMIM
OMIM
OMIM
ICD-10
Analyte(s):
ALG2
DPAGT1
GFPT1
ALG14
GMPPB
Created:
Changed:
  • Congenital disorders of glycosylation (100 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ALDOB 84.08 0 NM_000035.4
    ALG1 98.93 0 NM_019109.5
    ALG10 99.70 0 NM_032834.4
    ALG11 99.76 0 NM_001004127.3
    ALG12 99.83 0 NM_024105.4
    ALG13 99.93 0 NM_001099922.3
    ALG14 99.94 0 NM_144988.4
    ALG2 99.94 0 NM_033087.4
    ALG3 99.94 0 NM_005787.6
    ALG5 99.94 0 NM_013338.5
    ALG6 99.94 0 NM_013339.4
    ALG8 99.94 0 NM_024079.5
    ALG9 99.95 0 NM_024740.2
    ATP6AP1 99.95 0 NM_001183.6
    ATP6AP2 99.95 0 NM_005765.3
    ATP6V0A2 99.95 0 NM_012463.4
    ATP6V1A 99.95 0 NM_001690.4
    ATP6V1E1 99.96 0 NM_001696.4
    B4GALT1 99.96 0 NM_001497.4
    CAD 99.96 0 NM_004341.5
    CAMLG 99.97 0 NM_001745.4
    CCDC115 99.97 0 NM_032357.4
    COG1 99.97 0 NM_018714.3
    COG2 99.97 0 NM_007357.3
    COG3 99.97 0 NM_031431.4
    COG4 99.97 0 NM_015386.3
    COG5 99.97 0 NM_006348.5
    COG6 99.97 0 NM_020751.3
    COG7 99.97 0 NM_153603.4
    COG8 99.98 0 NM_032382.5
    DAD1 99.98 0 NM_001344.4
    DDOST 99.98 0 NM_005216.5
    DHDDS 99.98 0 NM_024887.4
    DHRSX 99.98 0 NM_145177.3
    DOLK 99.98 0 NM_014908.4
    DOLPP1 99.98 0 NM_020438.5
    DPAGT1 99.98 0 NM_001382.4
    DPM1 99.98 0 NM_003859.3
    DPM2 99.98 0 NM_003863.4
    DPM3 99.98 0 NM_153741.2
    EDEM3 99.98 0 NM_025191.4
    FCSK 99.99 0 NM_145059.3
    FUT1 99.99 0 NM_000148.4
    FUT8 99.99 0 NM_178155.3
    G6PC3 99.99 0 NM_138387.4
    GALE 99.99 0 NM_000403.4
    GALK1 99.99 0 NM_000154.2
    GALM 99.99 0 NM_138801.3
    GALT 99.99 0 NM_000155.4
    GANAB 99.99 0 NM_198335.4
    GET3 99.99 0 NM_004317.4
    GET4 99.99 0 NM_015949.3
    GFPT1 99.99 0 NM_001244710.2
    GFUS 99.99 0 NM_003313.4
    GMPPA 99.99 0 NM_205847.3
    GMPPB 99.99 0 NM_013334.4
    GNE 99.99 0 NM_001128227.3
    GNPNAT1 99.99 0 NM_198066.4
    MAGT1 99.99 0 NM_032121.5
    MAN1B1 99.99 0 NM_016219.5
    MAN2B2 99.99 0 NM_015274.3
    MGAT2 99.99 0 NM_002408.4
    MOGS 99.99 0 NM_006302.3
    MPDU1 100.00 0 NM_004870.4
    MPI 100.00 0 NM_002435.3
    NANS 100.00 0 NM_018946.4
    NPL 100.00 0 NM_030769.3
    NUS1 100.00 0 NM_138459.5
    OST4 100.00 0 NM_001134693.2
    OSTC 100.00 0 NM_001267818.2
    PGM1 100.00 0 NM_002633.3
    PGM3 100.00 0 NM_001199917.2
    PMM2 100.00 0 NM_000303.3
    PRKCSH 100.00 0 NM_002743.3
    RFT1 100.00 0 NM_052859.4
    RPN1 100.00 0 NM_002950.4
    RPN2 100.00 0 NM_002951.5
    SEC23B 100.00 0 NM_006363.6
    SLC10A7 100.00 0 NM_001300842.3
    SLC35A1 100.00 0 NM_006416.5
    SLC35A2 100.00 0 NM_001042498.3
    SLC35A3 100.00 0 NM_012243.3
    SLC35C1 100.00 0 NM_018389.5
    SLC35D1 100.00 0 NM_015139.3
    SLC37A4 100.00 0 NM_001164277.2
    SLC39A8 100.00 0 NM_022154.5
    SLC9A7 100.00 0 NM_032591.3
    SRD5A3 100.00 0 NM_024592.5
    SSR3 100.00 0 NM_007107.5
    SSR4 100.00 0 NM_001204526.1
    STT3A 100.00 0 NM_001278503.2
    STT3B 100.00 0 NM_178862.3
    STX5 100.00 0 NM_003164.5
    TMEM165 100.00 0 NM_018475.5
    TMEM199 100.00 0 NM_152464.3
    TRAPPC9 100.00 0 NM_031466.8
    TUSC3 100.00 0 NM_006765.4
    UGDH 100.00 0 NM_003359.4
    UGP2 100.00 0 NM_006759.4
    VMA21 100.00 0 NM_001017980.4
  • 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