Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (146 genes) - IPG

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Full name:
Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (146 genes) - IPG
Type of panel:
Version number:
Version 7
Laboratory:
Created:
04 Jul 2019 - 08:58
Changed:
11 Dec 2023 - 11:10
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ADAMTS9 100.00 1 NM_182920.2
AHI1 100.00 1 NM_001134831.2
ALG5 100.00 1 NM_013338.5
ALG8 100.00 1 NM_024079.5
ALG9 100.00 1 NM_024740.2
ANKS6 100.00 1 NM_173551.5
ARL13B 100.00 1 NM_001174150.2
ARL3 100.00 1 NM_004311.4
ARL6 100.00 1 NM_001278293.3
ARMC9 100.00 1 NM_001352754.2
ATXN10 100.00 1 NM_013236.4
B9D1 100.00 1 NM_015681.6
B9D2 100.00 1 NM_030578.4
BAP1 100.00 1 NM_004656.4
BBIP1 100.00 1 NM_001195305.3
BBS1 100.00 1 NM_024649.5
BBS10 100.00 1 NM_024685.4
BBS12 100.00 1 NM_152618.3
BBS2 100.00 1 NM_031885.5
BBS4 100.00 1 NM_033028.5
BBS5 100.00 1 NM_152384.3
BBS7 100.00 1 NM_176824.3
BBS9 100.00 1 NM_198428.3
C2CD3 100.00 1 NM_001286577.2
CC2D2A 100.00 1 NM_001378615.1
CCDC28B 100.00 1 NM_024296.5
CDC73 100.00 1 NM_024529.5
CEP104 100.00 1 NM_014704.4
CEP120 100.00 1 NM_001375405.1
CEP164 100.00 1 NM_014956.5
CEP290 100.00 1 NM_025114.4
CEP41 100.00 1 NM_018718.3
CEP83 100.00 1 NM_016122.3
CFAP418 100.00 1 NM_177965.4
COL4A1 100.00 1 NM_001845.6
COL4A3 100.00 1 NM_000091.5
COL4A4 100.00 1 NM_000092.5
COL4A5 100.00 1 NM_033380.3
CPLANE1 100.00 1 NM_001384732.1
CSPP1 100.00 1 NM_001382391.1
CYP24A1 100.00 1 NM_000782.5
DCDC2 100.00 1 NM_016356.5
DLG5 100.00 1 NM_004747.4
DNAJB11 100.00 1 NM_016306.6
DYNC2H1 100.00 1 NM_001377.3
DYNC2I1 100.00 1 NM_018051.5
DYNC2I2 100.00 1 NM_052844.4
DYNC2LI1 100.00 1 NM_016008.4
DYNLT2B 100.00 1 NM_152773.5
DZIP1L 100.00 1 NM_173543.3
EVC 100.00 1 NM_153717.3
EVC2 100.00 1 NM_147127.5
EYA1 100.00 1 NM_000503.6
FAM149B1 100.00 1 NM_173348.2
FAN1 100.00 1 NM_014967.5
FH 100.00 1 NM_000143.4
FLCN 100.00 1 NM_144997.7
GANAB 100.00 1 NM_198334.3
GATA3 100.00 1 NM_001002295.2
GATM 100.00 1 NM_001482.3
GLIS2 100.00 1 NM_032575.3
HNF1A 100.00 1 NM_000545.8
HNF1B 100.00 1 NM_000458.4
HYLS1 100.00 1 NM_001134793.2
IFT122 100.00 1 NM_052989.3
IFT140 100.00 1 NM_014714.4
IFT172 100.00 1 NM_015662.3
IFT27 100.00 1 NM_001177701.3
IFT43 100.00 1 NM_001102564.3
IFT52 100.00 1 NM_016004.5
IFT74 100.00 1 NM_025103.4
IFT80 100.00 1 NM_020800.3
IFT81 100.00 1 NM_014055.4
INPP5E 100.00 1 NM_019892.6
INTU 100.00 1 NM_015693.4
INVS 100.00 1 NM_014425.5
IQCB1 100.00 1 NM_001023570.4
JAG1 100.00 1 NM_000214.3
KATNIP 100.00 1 NM_015202.5
KIAA0586 100.00 1 NM_001329943.3
KIAA0753 100.00 1 NM_014804.3
KIF14 100.00 1 NM_014875.3
KIF7 100.00 1 NM_198525.3
LRP5 100.00 1 NM_002335.4
LRP6 100.00 1 NM_002336.3
LZTFL1 100.00 1 NM_020347.4
MAPKBP1 100.00 1 NM_014994.3
MET 100.00 1 NM_000245.4
MKKS 100.00 1 NM_170784.3
MKS1 100.00 1 NM_017777.4
NEK1 100.00 1 NM_001199397.3
NEK8 100.00 1 NM_178170.3
NOTCH2 99.00 1 NM_024408.4
NPHP1 100.00 1 NM_001128178.3
NPHP3 100.00 1 NM_153240.5
NPHP4 100.00 1 NM_015102.5
OFD1 100.00 1 NM_003611.3
PARN 100.00 1 NM_002582.4
PAX2 100.00 1 NM_000278.5
PDE6D 100.00 1 NM_002601.4
PIBF1 100.00 1 NM_006346.4
PKD1 100.00 1 NM_001009944.3
PKD2 100.00 1 NM_000297.4
PKHD1 100.00 1 NM_138694.4
PMM2 0.00 1 NM_000303.2 une seule position
POC1B 100.00 1 NM_172240.3
PRKCSH 100.00 1 NM_001289104.2
PTEN 100.00 1 NM_000314.8
REN 100.00 1 NM_000537.4
RNF139 100.00 1 NM_007218.4
RPGRIP1L 96.00 1 NM_015272.5
SDCCAG8 100.00 1 NM_006642.5
SDHA 100.00 1 NM_004168.4
SDHB 100.00 1 NM_003000.3
SDHC 100.00 1 NM_003001.5
SDHD 100.00 1 NM_003002.4
SEC61A1 100.00 1 NM_013336.4
SEC61B 100.00 1 NM_006808.3
SEC63 100.00 1 NM_007214.5
SLC41A1 100.00 1 NM_173854.6
SREBF1 100.00 1 NM_004176.5
SUFU 100.00 1 NM_016169.4
TCTN1 100.00 1 NM_001082538.3
TCTN2 100.00 1 NM_024809.5
TCTN3 100.00 1 NM_015631.6
TFAP2A 100.00 1 NM_001372066.1
TMEM107 100.00 1 NM_183065.4
TMEM138 100.00 1 NM_016464.5
TMEM216 100.00 1 NM_001173990.3
TMEM218 100.00 1 NM_001258244.2
TMEM231 100.00 1 NM_001077418.3
TMEM237 100.00 1 NM_001044385.3
TMEM67 100.00 1 NM_153704.6
TOGARAM1 100.00 1 NM_001308120.2
TRAF3IP1 100.00 1 NM_015650.4
TRIM32 100.00 1 NM_012210.4
TSC1 100.00 1 NM_000368.5
TSC2 100.00 1 NM_000548.5
TTC21B 100.00 1 NM_024753.5
TTC8 100.00 1 NM_144596.4
TXNDC15 100.00 1 NM_024715.4
UMOD 100.00 1 NM_003361.4
VHL 100.00 1 NM_000551.4
WDPCP 100.00 1 NM_015910.7
WDR19 100.00 1 NM_025132.4
WDR35 100.00 1 NM_020779.4
XPNPEP3 100.00 1 NM_022098.4
ZNF423 100.00 1 NM_001379286.1