Short Stature (46 genes) - IPG

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Full name:
Short Stature (46 genes) - IPG
Version number:
Version 3
Laboratory:
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Created:
04 Jul 2019 - 10:43
Changed:
20 Dec 2021 - 16:52
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