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  2. GRACILE syndrome

GRACILE syndrome

Disease Export to PDF
Name:
GRACILE syndrome
Description:
An inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).
ORPHAcode:
53693
Synonyms:
Fellman disease
Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
XREF(s):
Orphanet
OMIM
MeSH
ICD-10
Analyte(s):
BCS1L
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Cholestasis (40 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCB11 100.00 1 Part of Gastro-pneumo panel
    ABCB4 100.00 1 Part of Gastro-pneumo panel
    AKR1D1 100.00 1 Part of Gastro-pneumo panel
    AMACR 100.00 1 Part of Gastro-pneumo panel
    ATP8B1 100.00 1 Part of Gastro-pneumo panel
    BAAT 100.00 1 Part of Gastro-pneumo panel
    BCS1L 100.00 1 Part of Gastro-pneumo panel
    CC2D2A 100.00 1 Part of Gastro-pneumo panel
    CLDN1 100.00 1 Part of Gastro-pneumo panel
    CYP27A1 100.00 1 Part of Gastro-pneumo panel
    CYP7B1 100.00 1 Part of Gastro-pneumo panel
    DCDC2 100.00 1 Part of Gastro-pneumo panel
    DGUOK 100.00 1 Part of Gastro-pneumo panel
    HNF1B 100.00 1 Part of Gastro-pneumo panel
    HSD3B7 100.00 1 Part of Gastro-pneumo panel
    INVS 100.00 1 Part of Gastro-pneumo panel
    JAG1 100.00 1 Part of Gastro-pneumo panel
    MKS1 100.00 1 Part of Gastro-pneumo panel
    MPV17 100.00 1 Part of Gastro-pneumo panel
    NOTCH2 100.00 1 Part of Gastro-pneumo panel
    NPC1 100.00 1 Part of Gastro-pneumo panel
    NPC2 100.00 1 Part of Gastro-pneumo panel
    NPHP1 100.00 1 Part of Gastro-pneumo panel
    NPHP3 100.00 1 Part of Gastro-pneumo panel
    NPHP4 100.00 1 Part of Gastro-pneumo panel
    NR1H4 100.00 1 Part of Gastro-pneumo panel
    PKHD1 100.00 1 Part of Gastro-pneumo panel
    PNPLA3 0.00 1 Part of Gastro-pneumo panel / only rs738409 and rs2294918
    POLG 100.00 1 Part of Gastro-pneumo panel
    SLC25A13 100.00 1 Part of Gastro-pneumo panel
    SMPD1 100.00 1 Part of Gastro-pneumo panel
    TALDO1 100.00 1 Part of Gastro-pneumo panel
    TJP2 100.00 1 Part of Gastro-pneumo panel
    TM6SF2 0.00 1 Part of Gastro-pneumo panel / only rs58542926
    TMC4 0.00 1 Part of Gastro-pneumo panel / only rs641738
    TMEM216 100.00 1 Part of Gastro-pneumo panel
    TRMU 100.00 1 Part of Gastro-pneumo panel
    UGT1A1 100.00 1 Part of Gastro-pneumo panel
    VIPAS39 100.00 1 Part of Gastro-pneumo panel
    VPS33B 100.00 1 Part of Gastro-pneumo panel
  • mitochondrial disease, nuclear based (343 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS2 100.00 0 No comment
    ABAT 100.00 0 No comment
    ABCB7 100.00 0 No comment
    ACAD9 100.00 0 No comment
    ACO2 100.00 0 No comment
    ADPRS 99.18 0 No comment
    AFG3L2 95.05 0 No comment
    AGK 100.00 0 No comment
    AIFM1 100.00 0 No comment
    ALDH1B1 100.00 0 No comment
    ANO10 100.00 0 No comment
    APTX 100.00 0 No comment
    ATAD3A 98.67 0 No comment
    ATAD3B 98.52 0 No comment
    ATAD3C 97.28 0 No comment
    ATL1 100.00 0 No comment
    ATL3 100.00 0 No comment
    ATP5F1A 100.00 0 No comment
    ATP5F1B 100.00 0 No comment
    ATP5F1C 100.00 0 No comment
    ATP5F1D 86.59 0 No comment
    ATP5F1E 100.00 0 No comment
    ATP5IF1 100.00 0 No comment
    ATP5MC1 100.00 0 No comment
    ATP5MC2 100.00 0 No comment
    ATP5MC3 100.00 0 No comment
    ATP5MK 100.00 0 No comment
    ATP5ME 100.00 0 No comment
    ATP5MF 100.00 0 No comment
    ATP5MG 100.00 0 No comment
    ATP5MGL 100.00 0 No comment
    ATP5PB 99.84 0 No comment
    ATP5PD 99.81 0 No comment
    ATP5PF 100.00 0 No comment
    ATP5PO 100.00 0 No comment
    ATPAF1 81.57 0 No comment
    ATPAF2 100.00 0 No comment
    BCS1L 100.00 0 No comment
    BOLA1 100.00 0 No comment
    BOLA2 100.00 0 No comment
    BOLA3 84.43 0 No comment
    MTRFR 100.00 0 No comment
    C19ORF12 100.00 0 No comment
    C1QBP 97.23 0 No comment
    CARS2 95.42 0 No comment
    CEP89 100.00 0 No comment
    CHCHD10 97.45 0 No comment
    CHKB 99.69 0 No comment
    CLPB 100.00 0 No comment
    CLPP 100.00 0 No comment
    COA1 100.00 0 No comment
    COA3 100.00 0 No comment
    COA5 100.00 0 No comment
    COA6 100.00 0 No comment
    COA7 100.00 0 No comment
    COA8 100.00 0 No comment
    COASY 100.00 0 No comment
    COQ2 97.15 0 No comment
    COQ4 100.00 0 No comment
    COQ6 100.00 0 No comment
    COQ7 100.00 0 No comment
    COQ8A 100.00 0 No comment
    COQ8B 90.08 0 No comment
    COQ9 99.99 0 No comment
    COX10 100.00 0 No comment
    COX14 100.00 0 No comment
    COX15 100.00 0 No comment
    COX20 98.72 0 No comment
    COX4I1 100.00 0 No comment
    COX4I2 100.00 0 No comment
    COX5A 97.33 0 No comment
    COX5B 100.00 0 No comment
    COX6A1 100.00 0 No comment
    COX6A2 100.00 0 No comment
    COX6B1 100.00 0 No comment
    COX6B2 100.00 0 No comment
    COX6C 100.00 0 No comment
    COX7A1 100.00 0 No comment
    COX7A2 100.00 0 No comment
    COX7A2L 100.00 0 No comment
    COX7B 99.88 0 No comment
    COX7B2 100.00 0 No comment
    COX7C 100.00 0 No comment
    COX8A 100.00 0 No comment
    COX8C 98.71 0 No comment
    CYC1 88.46 0 No comment
    CYCS 100.00 0 No comment
    DARS2 100.00 0 No comment
    DDHD1 98.94 0 No comment
    DES 100.00 0 No comment
    DGUOK 100.00 0 No comment
    DHTKD1 99.98 0 No comment
    DLAT 100.00 0 No comment
    DLD 100.00 0 No comment
    DLST 100.00 0 No comment
    DMAC2L 100.00 0 No comment
    DNA2 100.00 0 No comment
    DNAJC19 100.00 0 No comment
    DNAJC3 100.00 0 No comment
    DNM1L 100.00 0 No comment
    EARS2 100.00 0 No comment
    ECHS1 99.99 0 No comment
    ECSIT 100.00 0 No comment
    ELAC2 99.99 0 No comment
    ETHE1 99.88 0 No comment
    FARS2 100.00 0 No comment
    FASTKD2 100.00 0 No comment
    FBXL4 100.00 0 No comment
    FDX2 100.00 0 No comment
    FDXR 100.00 0 No comment
    FH 100.00 0 No comment
    FOXRED1 100.00 0 No comment
    FXN 89.89 0 No comment
    GARS1 99.53 0 No comment
    GATB 100.00 0 No comment
    GATC 100.00 0 No comment
    GATM 99.26 0 No comment
    GFER 97.55 0 No comment
    GFM1 100.00 0 No comment
    GFM2 100.00 0 No comment
    GLRX5 84.06 0 No comment
    GLUD1 99.45 0 No comment
    GTPBP3 100.00 0 No comment
    HARS2 100.00 0 No comment
    HCCS 100.00 0 No comment
    HIBCH 100.00 0 No comment
    HLCS 100.00 0 No comment
    HSD17B10 100.00 0 No comment
    HSPA9 100.00 0 No comment
    HSPD1 99.53 0 No comment
    HTRA2 100.00 0 No comment
    IARS2 100.00 0 No comment
    IBA57 87.89 0 No comment
    ISCA1 99.77 0 No comment
    ISCA2 100.00 0 No comment
    ISCU 99.39 0 No comment
    KARS1 100.00 0 No comment
    LACTB 91.87 0 No comment
    LARS2 100.00 0 No comment
    LIAS 100.00 0 No comment
    LIPT1 100.00 0 No comment
    LIPT2 94.78 0 No comment
    LONP1 99.83 0 No comment
    LRPPRC 99.14 0 No comment
    LYRM4 68.80 0 No comment
    LYRM7 100.00 0 No comment
    MARS2 100.00 0 No comment
    MCUR1 79.55 0 No comment
    MDH2 98.91 0 No comment
    MFF 100.00 0 No comment
    MFN2 100.00 0 No comment
    MGME1 100.00 0 No comment
    MICOS13 100.00 0 No comment
    MICU1 100.00 0 No comment
    MIEF2 100.00 0 No comment
    MMUT 100.00 0 No comment
    MPC1 100.00 0 No comment
    MPV17 100.00 0 No comment
    MRM2 99.91 0 No comment
    MRM3 100.00 0 No comment
    MRPL12 92.58 0 No comment
    MRPL3 100.00 0 No comment
    MRPL44 100.00 0 No comment
    MRPL57 100.00 0 No comment
    MRPS14 100.00 0 No comment
    MRPS16 100.00 0 No comment
    MRPS2 98.34 0 No comment
    MRPS22 100.00 0 No comment
    MRPS34 97.33 0 No comment
    MRPS7 100.00 0 No comment
    MRRF 100.00 0 No comment
    MSTO1 100.00 0 No comment
    MTFMT 99.11 0 No comment
    MTO1 95.75 0 No comment
    MTPAP 100.00 0 No comment
    NADK2 90.73 0 No comment
    NARS2 100.00 0 No comment
    NAXE 99.78 0 No comment
    NDUFA1 100.00 0 No comment
    NDUFA10 95.87 0 No comment
    NDUFA11 98.06 0 No comment
    NDUFA12 100.00 0 No comment
    NDUFA13 100.00 0 No comment
    NDUFA2 100.00 0 No comment
    NDUFA3 100.00 0 No comment
    NDUFA4 99.68 0 No comment
    NDUFA5 87.27 0 No comment
    NDUFA6 100.00 0 No comment
    NDUFA7 100.00 0 No comment
    NDUFA8 100.00 0 No comment
    NDUFA9 100.00 0 No comment
    NDUFAB1 100.00 0 No comment
    NDUFAF1 100.00 0 No comment
    NDUFAF2 100.00 0 No comment
    NDUFAF3 100.00 0 No comment
    NDUFAF4 100.00 0 No comment
    NDUFAF5 100.00 0 No comment
    NDUFAF6 93.73 0 No comment
    NDUFAF7 100.00 0 No comment
    NDUFB1 100.00 0 No comment
    NDUFB10 100.00 0 No comment
    NDUFB11 99.52 0 No comment
    NDUFB2 100.00 0 No comment
    NDUFB3 100.00 0 No comment
    NDUFB4 99.85 0 No comment
    NDUFB5 100.00 0 No comment
    NDUFB6 100.00 0 No comment
    NDUFB7 100.00 0 No comment
    NDUFB8 100.00 0 No comment
    NDUFB9 100.00 0 No comment
    NDUFC1 100.00 0 No comment
    NDUFC2 100.00 0 No comment
    NDUFS1 100.00 0 No comment
    NDUFS2 100.00 0 No comment
    NDUFS3 100.00 0 No comment
    NDUFS4 100.00 0 No comment
    NDUFS5 99.18 0 No comment
    NDUFS6 100.00 0 No comment
    NDUFS7 99.49 0 No comment
    NDUFS8 100.00 0 No comment
    NDUFV1 100.00 0 No comment
    NDUFV2 100.00 0 No comment
    NDUFV3 99.46 0 No comment
    NFS1 93.58 0 No comment
    NFU1 99.75 0 No comment
    NSUN3 100.00 0 No comment
    NUBPL 100.00 0 No comment
    OGDH 100.00 0 No comment
    MED12 100.00 0 No comment
    OPA3 100.00 0 No comment
    OXA1L 100.00 0 No comment
    PANK2 98.60 0 No comment
    PARS2 100.00 0 No comment
    PODXL 100.00 0 No comment
    PDHA1 98.17 0 No comment
    PDHB 100.00 0 No comment
    PDHX 99.87 0 No comment
    PDK1 99.19 0 No comment
    PDK2 100.00 0 No comment
    PDK3 99.76 0 No comment
    PDK4 100.00 0 No comment
    PDP1 100.00 0 No comment
    PDSS1 86.24 0 No comment
    PDSS2 100.00 0 No comment
    PET100 100.00 0 No comment
    PET117 100.00 0 No comment
    PIGA 100.00 0 No comment
    PINK1 92.83 0 No comment
    PISD 100.00 0 No comment
    PITRM1 100.00 0 No comment
    PMPCA 100.00 0 No comment
    PNPT1 100.00 0 No comment
    POLG 100.00 0 No comment
    POLG2 100.00 0 No comment
    POLR3A 100.00 0 No comment
    PPA2 99.97 0 No comment
    PTRH2 100.00 0 No comment
    PUS1 99.08 0 No comment
    PYCR1 100.00 0 No comment
    PYCR2 100.00 0 No comment
    QRSL1 100.00 0 No comment
    RARS2 100.00 0 No comment
    REEP1 97.37 0 No comment
    RMND1 100.00 0 No comment
    RNASEH1 100.00 0 No comment
    RRM2B 100.00 0 No comment
    SARS2 100.00 0 No comment
    SCO1 100.00 0 No comment
    SCO2 100.00 0 No comment
    SDHA 98.02 0 No comment
    SDHAF1 96.03 0 No comment
    SDHB 100.00 0 No comment
    SDHD 80.22 0 No comment
    SERAC1 100.00 0 No comment
    SFXN4 100.00 0 No comment
    SLC19A2 99.50 0 No comment
    SLC19A3 100.00 0 No comment
    SLC25A1 93.77 0 No comment
    SLC25A12 100.00 0 No comment
    SLC25A13 99.94 0 No comment
    SLC25A19 100.00 0 No comment
    SLC25A22 100.00 0 No comment
    SLC25A24 99.82 0 No comment
    SLC25A3 100.00 0 No comment
    SLC25A32 100.00 0 No comment
    SLC25A4 99.09 0 No comment
    SLC25A46 100.00 0 No comment
    SLC25A5 98.36 0 No comment
    SLC25A6 100.00 0 No comment
    SLC39A8 97.00 0 No comment
    SPART 100.00 0 No comment
    SPAST 100.00 0 No comment
    AFG2A 100.00 0 No comment
    SPG7 96.56 0 No comment
    SQSTM1 93.68 0 No comment
    STXBP1 100.00 0 No comment
    SUCLA2 100.00 0 No comment
    SUCLG1 95.74 0 No comment
    SUCLG2 99.95 0 No comment
    SURF1 87.74 0 No comment
    TACO1 99.90 0 No comment
    TANGO2 100.00 0 No comment
    TARS2 100.00 0 No comment
    WWTR1 99.81 0 No comment
    THG1L 100.00 0 No comment
    TIMM44 99.93 0 No comment
    TIMM50 100.00 0 No comment
    TIMM8A 100.00 0 No comment
    TIMMDC1 100.00 0 No comment
    TK2 95.90 0 No comment
    TMEM126A 100.00 0 No comment
    TMEM126B 100.00 0 No comment
    TMEM70 100.00 0 No comment
    TPK1 100.00 0 No comment
    TRIAP1 100.00 0 No comment
    TRIT1 100.00 0 No comment
    TRMT10C 100.00 0 No comment
    TRMT5 100.00 0 No comment
    TRMU 100.00 0 No comment
    TRNT1 100.00 0 No comment
    TSFM 93.22 0 No comment
    TTC19 85.12 0 No comment
    TUFM 100.00 0 No comment
    TWNK 100.00 0 No comment
    TXN2 100.00 0 No comment
    TYMP 91.72 0 No comment
    UBA52 100.00 0 No comment
    UQCC1 100.00 0 No comment
    UQCC2 100.00 0 No comment
    UQCC3 100.00 0 No comment
    UQCR10 100.00 0 No comment
    UQCR11 100.00 0 No comment
    UQCRB 100.00 0 No comment
    UQCRC1 99.82 0 No comment
    UQCRC2 100.00 0 No comment
    UQCRFS1 98.87 0 No comment
    UQCRH 100.00 0 No comment
    UQCRQ 100.00 0 No comment
    VARS2 100.00 0 No comment
    VPS13D 100.00 0 No comment
    WARS2 100.00 0 No comment
    YARS2 100.00 0 No comment
    YME1L1 100.00 0 No comment