Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (146 genes) - IPG
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
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Laboratory: | |
Created: |
04 Jul 2019 - 08:58
|
Changed: |
11 Dec 2023 - 11:10
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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 |