Nephropathies, hereditary (219 genes) - KUL

Gene panel Export to PDF
Full name:
Nephropathies, hereditary (219 genes) - KUL
Description:
https://firebasestorage.googleapis.com/v0/b/uz-laboboeken.appspot.com/o/GHB_CME%2FNefro%20-%20NGS%20-%20full%20panel.pdf?alt=media&token=e2ca0253-44f6-4107-b086-2c1d6236ddce
Version number:
Nefro_full_v5
Laboratory:
Created:
03 Jul 2019 - 09:27
Changed:
07 Aug 2023 - 12:41
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ACE 95.00 0 NM_000789.4
ACTN4 95.00 0 NM_004924.6
AGT 95.00 0 NM_001384479.1
AGTR1 95.00 0 NM_031850.4
AGXT 95.00 0 NM_000030.3
ALG5 95.00 0 NM_013338.5
ALG8 95.00 0 NM_024079.5
ALG9 95.00 0 NM_024740.2
AMN 95.00 0 NM_030943.4
ANKS6 95.00 0 NM_173551.5
ANLN 95.00 0 NM_018685.5
ANOS1 95.00 0 NM_000216.4
AP2S1 95.00 0 NM_004069.6
APOA1 95.00 0 NM_000039.3
APOA2 95.00 0 NM_001643.2
APOC2 95.00 0 NM_000483.5
APOE 95.00 0 NM_000041.4
APOL1 95.00 0 NM_003661.4
APRT 95.00 0 NM_000485.3
ARHGAP24 95.00 0 NM_001025616.3
ARHGDIA 95.00 0 NM_001185077.3
ATP6V0A4 95.00 0 NM_020632.3
ATP6V1B1 95.00 0 NM_001692.4
BMP4 95.00 0 NM_001202.6
BNC2 95.00 0 NM_017637.6
BSND 95.00 0 NM_057176.3
C3 95.00 0 NM_000064.4
CA2 95.00 0 NM_000067.3
CACNA1D 95.00 0 NM_000720.4
CACNA1H 95.00 0 NM_021098.3
CASR 95.00 0 NM_000388.4
CD2AP 95.00 0 NM_012120.3
CD46 95.00 0 NM_002389.4
CDC73 95.00 0 NM_024529.5
CDK20 95.00 0 NM_001039803.3
CEP164 95.00 0 NM_014956.5
CEP290 95.00 0 NM_025114.4
CEP83 95.00 0 NM_016122.3
CFB 95.00 0 NM_001710.6
CFH 95.00 0 NM_000186.4
CFHR1 95.00 0 NM_002113.3
CFHR3 95.00 0 NM_021023.6
CFHR5 95.00 0 NM_030787.4
CFI 95.00 0 NM_000204.5
CLCN2 95.00 0 NM_004366.6
CLCN5 95.00 0 NM_000084.5
CLCNKA 95.00 0 NM_004070.4
CLCNKB 95.00 0 NM_000085.5
CLDN10 95.00 0 NM_006984.5
CLDN16 95.00 0 NM_006580.4
CLDN19 95.00 0 NM_148960.3
CNNM2 95.00 0 NM_017649.5
COL4A1 95.00 0 NM_001845.6
COL4A3 95.00 0 NM_000091.5
COL4A4 95.00 0 NM_000092.5
COL4A5 95.00 0 NM_000495.5
COQ2 95.00 0 NM_015697.9
COQ6 95.00 0 NM_182476.3
COQ8B 95.00 0 NM_024876.4
CRB2 95.00 0 NM_173689.7
CTNS 95.00 0 NM_004937.3
CUBN 95.00 0 NM_001081.4
CUL3 95.00 0 NM_003590.5
CYP11B1 95.00 0 NM_000497.4
CYP11B2 95.00 0 NM_000498.3
CYP17A1 95.00 0 NM_000102.4
CYP24A1 95.00 0 NM_000782.5
DAAM2 95.00 0 NM_001201427.2
DGKE 95.00 0 NM_003647.3
DLEC1 95.00 0 NM_182643.3
DNAJB11 95.00 0 NM_016306.6
DSTYK 95.00 0 NM_015375.3
DZIP1L 95.00 0 NM_173543.3
EGF 95.00 0 NM_001963.6
EHHADH 95.00 0 NM_001966.4
EMP2 95.00 0 NM_001424.6
EYA1 95.00 0 NM_000503.6
FAM20A 95.00 0 NM_017565.4
FAN1 95.00 0 NM_014967.5
FAT1 95.00 0 NM_005245.4
FGA 95.00 0 NM_021871.4
FGF20 95.00 0 NM_019851.3
FGF23 95.00 0 NM_020638.3
FN1 95.00 0 NM_212482.4
FOXC1 95.00 0 NM_001453.3
FOXC2 95.00 0 NM_005251.3
FOXI1 95.00 0 NM_012188.5
FXYD2 95.00 0 NM_001680.5
GANAB 95.00 0 NM_198335.4
GATA3 95.00 0 NM_001002295.2
GATM 95.00 0 NM_001482.3
GDNF 95.00 0 NM_000514.4
GLA 95.00 0 NM_000169.3
GLIS2 95.00 0 NM_032575.3
GNA11 95.00 0 NM_002067.5
GREB1L 95.00 0 NM_001142966.3
GRHPR 95.00 0 NM_012203.2
GRIP1 95.00 0 NM_021150.4
GSN 95.00 0 NM_000177.5
HNF1A 95.00 0 NM_000545.8
HNF1B 95.00 0 NM_000458.4
HNF4A 95.00 0 NM_175914.5
HOGA1 95.00 0 NM_138413.4
HOXA13 95.00 0 NM_000522.5
HPRT1 95.00 0 NM_000194.3
HSD11B2 95.00 0 NM_000196.4
IFT140 95.00 0 NM_014714.4
IFT81 95.00 0 NM_014055.4
INF2 95.00 0 NM_022489.4
INVS 95.00 0 NM_014425.5
ITGA8 95.00 0 NM_003638.3
ITSN1 95.00 0 NM_003024.3
ITSN2 95.00 0 NM_147152.3
JAG1 95.00 0 NM_000214.3
KANK2 95.00 0 NM_001136191.3
KCNA1 95.00 0 NM_000217.3
KCNJ1 95.00 0 NM_000220.6
KCNJ10 95.00 0 NM_002241.5
KCNJ5 95.00 0 NM_000890.5
KIRREL1 95.00 0 NM_018240.7
KL 95.00 0 NM_004795.4
KLHL3 95.00 0 NM_017415.3
LAMB2 95.00 0 NM_002292.4
LCAT 95.00 0 NM_000229.2
LDHD 95.00 0 NM_153486.4
LHX1 95.00 0 NM_005568.5
LIFR 95.00 0 NM_002310.6
LMX1B 95.00 0 NM_002316.4
LYZ 95.00 0 NM_000239.3
MAGED2 95.00 0 NM_177433.3
MAGI2 95.00 0 NM_012301.4
MAPKBP1 95.00 0 NM_001128608.2
MMACHC 95.00 0 NM_015506.3
MOCOS 95.00 0 NM_017947.4
MTX2 95.00 0 NM_006554.5
MUC1 95.00 0 NM_002456.6
MYH9 95.00 0 NM_002473.6
MYO1E 95.00 0 NM_004998.4
NEK8 95.00 0 NM_178170.3
NOTCH2 95.00 0 NM_024408.4
NPHP1 95.00 0 NM_000272.5
NPHP3 95.00 0 NM_153240.5
NPHP4 95.00 0 NM_015102.5
NPHS1 95.00 0 NM_004646.4
NPHS2 95.00 0 NM_014625.4
NR3C1 95.00 0 NM_001018077.1
NR3C2 95.00 0 NM_000901.5
NUP107 95.00 0 NM_020401.4
NUP133 95.00 0 NM_018230.3
NUP160 95.00 0 NM_015231.3
NUP85 95.00 0 NM_024844.5
NUP93 95.00 0 NM_014669.5
OCRL 95.00 0 NM_000276.4
OFD1 95.00 0 NM_003611.3
PAX2 95.00 0 NM_003987.5
PBX1 95.00 0 NM_002585.4
PCBD1 95.00 0 NM_000281.4
PDSS2 95.00 0 NM_020381.4
PHEX 95.00 0 NM_000444.6
PKD1 95.00 0 NM_001009944.3
PKD2 95.00 0 NM_000297.4
PKHD1 95.00 0 NM_138694.4
PLCE1 95.00 0 NM_016341.4
PODXL 95.00 0 NM_005397.4
PRPS1 95.00 0 NM_002764.4
PTPRO 95.00 0 NM_030667.3
REN 95.00 0 NM_000537.4
RET 95.00 0 NM_020975.6
ROBO2 95.00 0 NM_002942.5
SALL1 95.00 0 NM_002968.3
SARS2 95.00 0 NM_017827.4
SCARB2 95.00 0 NM_005506.4
SCNN1A 95.00 0 NM_001038.6
SCNN1B 95.00 0 NM_000336.3
SCNN1G 95.00 0 NM_001039.4
SDCCAG8 95.00 0 NM_006642.5
SEC61A1 95.00 0 NM_013336.4
SGPL1 95.00 0 NM_003901.4
SIX1 95.00 0 NM_005982.4
SIX5 95.00 0 NM_175875.5
SLC12A1 95.00 0 NM_000338.3
SLC12A3 95.00 0 NM_000339.3
SLC22A12 95.00 0 NM_144585.4
SLC26A1 95.00 0 NM_213613.4
SLC2A2 95.00 0 NM_000340.2
SLC2A9 95.00 0 NM_020041.3
SLC34A1 95.00 0 NM_003052.5
SLC34A3 95.00 0 NM_080877.3
SLC3A1 95.00 0 NM_000341.4
SLC4A1 95.00 0 NM_000342.4
SLC4A4 95.00 0 NM_003759.4
SLC5A2 95.00 0 NM_003041.4
SLC7A9 95.00 0 NM_014270.5
SLIT2 95.00 0 NM_004787.4
SMARCAL1 95.00 0 NM_014140.4
TBC1D1 95.00 0 NM_015173.4
TBC1D8B 95.00 0 NM_017752.3
TBX18 95.00 0 NM_001080508.3
TNS2 95.00 0 NM_015319.2
TRAF3IP1 95.00 0 NM_015650.4
TRAP1 95.00 0 NM_016292.3
TRIM8 95.00 0 NM_030912.3
TRPC6 95.00 0 NM_004621.6
TRPM6 95.00 0 NM_017662.5
TSC1 95.00 0 NM_000368.5
TSC2 95.00 0 NM_000548.5
TTC21B 95.00 0 NM_024753.5
TTR 95.00 0 NM_000371.4
UMOD 95.00 0 NM_003361.4
VHL 95.00 0 NM_000551.4
WDR19 95.00 0 NM_025132.4
WDR72 95.00 0 NM_182758.4
WFS1 95.00 0 NM_006005.3
WNK1 95.00 0 NM_018979.4
WNK4 95.00 0 NM_032387.5
WNT4 95.00 0 NM_030761.5
WT1 95.00 0 NM_024426.6
XDH 95.00 0 NM_000379.4
XPNPEP3 95.00 0 NM_022098.4