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Silver-Russell syndrome due to a point mutation

Disease Export to PDF
Name:
Silver-Russell syndrome due to a point mutation
ORPHAcode:
397590
XREF(s):
Orphanet
OMIM
OMIM
OMIM
ICD-10
Analyte(s):
IGF2
CDKN1C
HMGA2
PLAG1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Overgrowth (24 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADARB2 100.00 1 NM_018702.4
    AKT1 100.00 1 NM_001014431.2
    AKT3 100.00 1 NM_005465.7
    BRWD3 100.00 1 NM_153252.5
    CDKN1C 100.00 1 NM_001362474.2
    CHD3 100.00 1 NM_001005273.3
    CHD8 100.00 1 NM_001170629.2
    DIS3L2 100.00 1 NM_152383.4
    DNMT3A 100.00 1 NM_175629.2
    EED 100.00 1 NM_003797.5
    EZH2 100.00 1 NM_004456.5
    GPC3 100.00 1 NM_001164617.2
    H1-4 100.00 1 NM_005321.3
    KMT5B 100.00 1 NM_017635.5
    MTOR 100.00 1 NM_004958.4
    NFIX 100.00 1 NM_002501.4
    NSD1 100.00 1 NM_022455.4
    PDGFRB 100.00 1 NM_002609.4
    PIK3CA 100.00 1 NM_006218.4
    PPP2R5C 100.00 1 NM_001161725.1
    PPP2R5D 100.00 1 NM_006245.4
    PTEN 100.00 1 NM_000314.8
    SETD2 100.00 1 NM_014159.6
    TCF20 100.00 1 NM_005650.3
  • Short Stature (46 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACAN 90.00 1 NM_001369268.1
    ANKRD11 100.00 1 NM_013275.6
    BRAF 100.00 1 NM_001354609.2
    BTK 100.00 1 NM_000061.3
    CBL 100.00 1 NM_005188.4
    CCDC8 100.00 1 NM_032040.5
    CREBBP 100.00 1 NM_004380.3
    CUL7 100.00 1 NM_014780.5
    DHCR7 100.00 1 NM_001360.3
    DVL1 100.00 1 NM_001330311.2
    EP300 100.00 1 NM_001429.4
    FGD1 100.00 1 NM_004463.3
    FGFR3 100.00 1 NM_001163213.1
    GH1 100.00 1 NM_000515.5
    GHR 100.00 1 NM_000163.5
    GHRHR 100.00 1 NM_000823.4
    GHSR 100.00 1 NM_198407.2
    HRAS 100.00 1 NM_005343.4
    IGF1 100.00 1 NM_000618.5
    IGF1R 100.00 1 NM_000875.5
    IGF2 100.00 1 NM_000612.6
    IGFALS 100.00 1 NM_004970.3
    KDM6A 100.00 1 NM_001291415.2
    KMT2D 100.00 1 NM_003482.3
    KRAS 100.00 1 NM_033360.4
    NPPC 100.00 1 NM_024409.4
    NPR2 100.00 1 NM_003995.3
    NPR3 100.00 1 NM_001204375.2
    NRAS 100.00 1 NM_002524.5
    OBSL1 100.00 1 NM_015311.3
    PIK3R1 100.00 1 NM_181523.3
    POU1F1 100.00 1 NM_000306.4
    PTPN11 100.00 1 NM_002834.5
    RAF1 100.00 1 NM_001354689.3
    RASA2 100.00 1 NM_006506.5
    RIT1 100.00 1 NM_006912.6
    ROR2 100.00 1 NM_004560.4
    RPS6KA3 100.00 1 NM_004586.3
    SHOC2 100.00 1 NM_007373.4
    SHOX 100.00 1 NM_000451.3
    SOS1 100.00 1 NM_005633.3
    SOX3 100.00 1 NM_005634.2
    SRCAP 100.00 1 NM_006662.3
    STAT5B 100.00 1 NM_012448.4
    TRIM37 100.00 1 NM_015294.6
    WNT5A 100.00 1 NM_003392.4