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Osteogenesis imperfecta type 2

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Name:
Osteogenesis imperfecta type 2
Description:
A lethal type of osteogenesis imperfecta (OI) characterized by increased bone fragility, low bone mass and susceptibility to bone fractures and presenting with multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density skull on X-ray, and dark sclera.
ORPHAcode:
216804
Synonyms:
Lethal osteogenesis imperfecta
OI type 2
XREF(s):
Orphanet
ICD-10
OMIM
OMIM
OMIM
OMIM
Analyte(s):
COL1A1
COL1A2
P3H1
CRTAP
PPIB
MESD
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Osteogenesis Imperfecta (25 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ANO5 95.00 0 NM_213599.3
    BMP1 95.00 0 NM_006129.5
    COL1A1 95.00 0 NM_000088.4
    COL1A2 95.00 0 NM_000089.4
    CREB3L1 95.00 0 NM_052854.4
    CRTAP 95.00 0 NM_006371.5
    FKBP10 95.00 0 NM_021939.4
    IFITM5 95.00 0 NM_001025295.3
    LRP5 95.00 0 NM_002335.4
    MBTPS2 95.00 0 NM_015884.4
    P3H1 95.00 0 NM_022356.4
    P4HB 95.00 0 NM_000918.4
    PLOD2 95.00 0 NM_182943.3
    PLS3 95.00 0 NM_005032.7
    PPIB 95.00 0 NM_000942.5
    SEC24D 95.00 0 NM_014822.4
    SERPINF1 95.00 0 NM_002615.7
    SERPINH1 95.00 0 NM_001235.5
    SGMS2 95.00 0 NM_001136257.2
    SP7 95.00 0 NM_001173467.3
    SPARC 95.00 0 NM_003118.4
    TENT5A 95.00 0 NM_017633.3
    TMEM38B 95.00 0 NM_018112.3
    WNT1 95.00 0 NM_005430.4
    XYLT2 95.00 0 NM_022167.4
  • Osteogenesis imperfecta (18 genes) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    B3GALT6
    BMP1
    CREB3L1
    CRTAP
    FKBP10
    P3H1
    P4HB
    PLOD2
    PPIB
    SEC24D
    SERPINF1
    SERPINH1
    SP7
    SPARC
    TAPT1
    TMEM38B
    WNT1
    XYLT2
  • Osteogenesis imperfecta (3 genes) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    COL1A1
    COL9A2
    IFITM5
  • Osteogenesis imperfecta and Osteoporosis (43 genes) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACAN 100.00 1
    ALPL 100.00 1
    B3GALT6 100.00 1
    BMP1 100.00 1
    COL1A1 100.00 1
    COL1A2 100.00 1
    CREB3L1 100.00 1
    CRTAP 100.00 1
    FKBP10 100.00 1
    IFITM5 100.00 1
    P3H1 100.00 1
    LRP5 100.00 1
    LRP6 100.00 1
    MBTPS2 100.00 1
    MIA3 100.00 1
    NBAS 100.00 1
    P4HB 100.00 1
    PLOD2 100.00 1
    PLS3 100.00 1
    PPIB 100.00 1
    SEC16B 100.00 1
    SEC24D 100.00 1
    SERPINF1 100.00 1
    SERPINH1 100.00 1
    SP7 100.00 1
    SPARC 100.00 1
    TAPT1 100.00 1
    TENT5A 100.00 1
    WNT1 100.00 1
    TMEM38B 100.00 1
    LIFR 100.00 1
    ARF5 100.00 1
    BICDL1 100.00 1
    CCDC134 100.00 1
    COPB2 100.00 1
    KDELR2 100.00 1
    MESD 100.00 1
    PHEX 100.00 1
    SGMS2 100.00 1
    STX18 100.00 1
    SUCO 100.00 1
    WNT3A 100.00 1
    XYLT2 100.00 1