Osteogenesis imperfecta and Osteoporosis (43 genes) - UGent

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Full name:
Osteogenesis imperfecta and Osteoporosis (43 genes) - UGent
Abbreviation:
OI/OP
Type of panel:
in-house
Version number:
2
Laboratory:
Centrum Medische Genetica - UZ Gent
Created:
11 Dec 2019 - 13:33
Changed:
19 Dec 2022 - 13:17
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ACAN 100.00 1
ALPL 100.00 1
ARF5 100.00 1
B3GALT6 100.00 1
BICDL1 100.00 1
BMP1 100.00 1
CCDC134 100.00 1
COL1A1 100.00 1
COL1A2 100.00 1
COPB2 100.00 1
CREB3L1 100.00 1
CRTAP 100.00 1
FKBP10 100.00 1
IFITM5 100.00 1
KDELR2 100.00 1
LIFR 100.00 1
LRP5 100.00 1
LRP6 100.00 1
MBTPS2 100.00 1
MESD 100.00 1
MIA3 100.00 1
NBAS 100.00 1
P3H1 100.00 1
P4HB 100.00 1
PHEX 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
SGMS2 100.00 1
SP7 100.00 1
SPARC 100.00 1
STX18 100.00 1
SUCO 100.00 1
TAPT1 100.00 1
TENT5A 100.00 1
TMEM38B 100.00 1
WNT1 100.00 1
WNT3A 100.00 1
XYLT2 100.00 1