Growth retardation/short stature (genepanel) - UZA

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Full name:
Growth retardation/short stature (genepanel) - UZA
Version number:
WESSS_v6
Laboratory:
Centrum Medische Genetica - UZ Antwerpen
Created:
04 Jul 2019 - 14:36
Changed:
28 Nov 2023 - 06:49
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ACAN 98.48 1
ALPL 99.97 1
ANKRD11 100.00 1
ARCN1 99.91 1
ARID1A 98.84 1
ARID1B 97.80 1
ARID2 99.96 1
BMP2 99.97 1
BRAF 98.17 1
BTK 99.34 1
CBL 99.89 1
CCDC8 100.00 1
CDC45 100.00 1
CDC6 99.94 1
CDKN1C 97.19 1
CDT1 94.33 1
CREBBP 99.91 1
CUL7 100.00 1
DHCR7 100.00 1
DVL1 100.00 1
EP300 99.96 1
FGD1 98.85 1
FGFR3 99.67 1
FLNA 99.89 1
GH1 100.00 1
GHR 99.78 1
GHRHR 99.79 1
GHSR 99.99 1
GMNN 99.70 1
HESX1 99.81 1
HMGA2 72.70 1
HRAS 100.00 1
IGF1 99.96 1
IGF1R 99.98 1
IGF2 100.00 1
IGFALS 100.00 1
IHH 99.93 1
KDM6A 98.95 1
KMT2A 99.18 1
KMT2D 99.98 1
KRAS 99.92 1
LZTR1 99.99 1
MAP2K1 99.98 1
MAP2K2 99.99 1
MAPK1 99.56 1
MRAS 100.00 1
NBAS 99.97 1
NPR2 99.97 1
NRAS 99.45 1
OBSL1 99.32 1
ORC1 99.96 1
ORC4 99.90 1
ORC6 99.91 1
PAPPA2 99.91 1
PIK3R1 99.80 1
PLAG1 99.90 1
POC1A 99.98 1
POU1F1 99.92 1
PPP1CB 99.99 1
PTPN11 99.91 1
RAF1 99.96 1
RASA2 99.59 1
RIT1 99.96 1
RNPC3 99.76 1
ROR2 99.24 1
RRAS2 99.60 1
SHOC2 99.81 1
SHOX 94.81 1
SMARCA4 99.98 1
SMARCB1 100.00 1
SOS1 99.81 1
SOS2 99.70 1
SOX3 97.93 1
SPRED2 99.96 1
SRCAP 99.97 1
STAT5B 99.94 1
TOP3A 99.95 1
TRIM37 99.81 1
WNT5A 99.96 1
YY1 99.63 1