Growth retardation/short stature (52 genes) - UZA
Full name: |
Growth retardation/short stature (52 genes) - UZA
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Description: |
Last update: 24/12/2020
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Version number: |
WESSS_v5
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Created: |
04 Jul 2019 - 14:36
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Changed: |
28 Jun 2021 - 10:35
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Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
---|---|---|---|
ACAN | |||
ANKRD11 | |||
ARID1A | |||
ATR | |||
CCDC8 | |||
CDC45 | |||
CDC6 | |||
CDT1 | |||
CENPJ | |||
CEP152 | |||
CEP63 | |||
CHD4 | |||
CUL7 | |||
DNA2 | |||
FGD1 | |||
FGFR3 | |||
FLNA | |||
GH1 | |||
GHR | |||
GHRHR | |||
GHSR | |||
GMNN | |||
IGF1 | |||
IGF1R | |||
IGF2 | |||
IGFALS | |||
IKBKB | |||
IL2RG | |||
KMT2A | |||
NIN | |||
NPPC | |||
NPR2 | |||
NPR3 | |||
OBSL1 | |||
ORC1 | |||
ORC4 | |||
ORC6 | |||
PAPPA2 | |||
PCNT | |||
PIK3R1 | |||
POC1A | |||
PTPN11 | |||
RBBP8 | |||
ROR2 | |||
SHOX | |||
SRCAP | |||
STAT3 | |||
STAT5B | |||
THRA | |||
TRAIP | |||
TRIM37 | |||
WNT5A |