Tubulopathy/Nephrolithiasis (106 genes) - IPG

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Full name:
Tubulopathy/Nephrolithiasis (106 genes) - IPG
Type of panel:
Custom panel
Version number:
Version 7
Laboratory:
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Created:
04 Jul 2019 - 10:45
Changed:
11 Dec 2023 - 11:51
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ADCY10 100.00 1 NM_018417.6
AGT 100.00 1 NM_001384479.1
AGTR1 100.00 1 NM_000685.5
AGXT 100.00 1 NM_000030.3
ALDOB 100.00 1 NM_000035.4
ALPL 100.00 1 NM_000478.6
AP2S1 100.00 1 NM_004069.6
APRT 100.00 1 NM_000485.3
AQP2 100.00 1 NM_000486.6
ATP6V0A4 100.00 1 NM_020632.3
ATP6V1B1 100.00 1 NM_001692.4
ATP7B 100.00 1 NM_000053.4
AVPR2 100.00 1 NM_000054.7
BSND 100.00 1 NM_057176.3
CA2 100.00 1 NM_000067.3
CACNA1H 100.00 1 NM_021098.3
CASR 100.00 1 NM_000388.4
CDC73 100.00 1 NM_024529.5
CLCN2 100.00 1 NM_004366.6
CLCN5 100.00 1 NM_001127898.4
CLCNKA 100.00 1 NM_004070.4
CLCNKB 100.00 1 NM_000085.5
CLDN10 100.00 1 NM_006984.5
CLDN16 100.00 1 NM_006580.4
CLDN19 100.00 1 NM_148960.3
CNNM2 100.00 1 NM_017649.5
CTNS 100.00 1 NM_004937.3
CUL3 100.00 1 NM_003590.5
CYP11B1 100.00 1 NM_000497.4
CYP17A1 100.00 1 NM_000102.4
CYP24A1 100.00 1 NM_000782.5
DMP1 100.00 1 NM_004407.4
EGF 100.00 1 NM_001963.6
EGFR 100.00 1 NM_005228.5
EHHADH 100.00 1 NM_001966.4
ENPP1 100.00 1 NM_006208.3
FAH 100.00 1 NM_000137.4
FAM20A 100.00 1 NM_017565.4
FAN1 100.00 1 NM_014967.5
FANCA 100.00 1 no
FGF23 100.00 1 NM_020638.3
FOXI1 100.00 1 NM_012188.5
FXYD2 100.00 1 NM_001680.5
G6PC1 100.00 1 NM_000151.4
GALT 100.00 1 NM_000155.4
GATM 100.00 1 NM_001482.3
GNA11 100.00 1 NM_002067.5
GRHPR 100.00 1 NM_012203.2
HNF1A 100.00 1 NM_000545.8
HNF1B 100.00 1 NM_000458.4
HNF4A 100.00 1 NM_175914.5
HOGA1 100.00 1 NM_138413.4
HPRT1 100.00 1 NM_000194.3
HSD11B2 100.00 1 NM_000196.4
KCNJ1 100.00 1 NM_153766.3
KCNJ10 100.00 1 NM_002241.5
KCNJ16 100.00 1 NM_170741.4
KCNJ5 100.00 1 NM_000890.5
KL 100.00 1 NM_004795.4
KLHL3 100.00 1 NM_017415.3
LAGE3 100.00 1 NM_006014.5
LDHD 100.00 1 NM_194436.3
LRP2 100.00 1 NM_004525.3
MAGED2 100.00 1 NM_177433.3
MEN1 100.00 1 NM_001370259.2
MOCOS 100.00 1 NM_017947.4
NHERF1 100.00 1 NM_004252.5
NR3C2 100.00 1 NM_000901.5
OCRL 100.00 1 NM_000276.4
PCBD1 100.00 1 NM_000281.4
PHEX 100.00 1 NM_000444.6
PRPS1 100.00 1 NM_002764.4
REN 100.00 1 NM_000537.4
RRAGD 100.00 1 NM_021244.5
SCNN1A 100.00 1 NM_001038.6
SCNN1B 100.00 1 NM_000336.3
SCNN1G 100.00 1 NM_001039.4
SEC61A1 100.00 1 NM_013336.4
SLC12A1 100.00 1 NM_000338.3
SLC12A3 100.00 1 NM_001126108.2
SLC16A12 100.00 1 NM_213606.4
SLC22A12 100.00 1 NM_144585.4
SLC26A1 100.00 1 NM_022042.4
SLC2A2 100.00 1 NM_000340.2
SLC2A9 100.00 1 NM_020041.3
SLC34A1 100.00 1 NM_003052.5
SLC34A3 100.00 1 NM_001177316.2
SLC36A2 100.00 1 NM_181776.3
SLC3A1 100.00 1 NM_000341.4
SLC41A1 100.00 1 NM_173854.6
SLC4A1 100.00 1 NM_000342.4
SLC4A4 100.00 1 NM_001098484.3
SLC5A1 100.00 1 NM_000343.4
SLC5A2 100.00 1 NM_003041.4
SLC6A19 100.00 1 NM_001003841.3
SLC6A20 100.00 1 NM_020208.4
SLC7A9 100.00 1 NM_014270.5
TRPM6 100.00 1 NM_017662.5
UMOD 100.00 1 NM_003361.4
VDR 100.00 1 NM_000376.3
VIPAS39 100.00 1 NM_001193315.2
VPS33B 100.00 1 NM_018668.5
WDR72 100.00 1 NM_182758.4
WFS1 100.00 1 NM_006005.3
WNK1 100.00 1 NM_018979.4
WNK4 100.00 1 NM_032387.5
XDH 100.00 1 NM_000379.4