Tubulopathy/Hyperuricemia (gene panel) - IPG

Gene panel Export to PDF
Full name:
Tubulopathy/Hyperuricemia (gene panel) - IPG
Version number:
Version 7
Laboratory:
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Responsible personnel member:
Dr. Pascale Hilbert, M.Sc, PhD
Created:
04 Jul 2019 - 10:45
Changed:
14 Dec 2022 - 18:03
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ADCY10 100.00 1 NM_018417.6
AGTR1 100.00 1 no
AGXT 100.00 1 NM_000029.4
ALDOB 100.00 1 NM_000030.3
ALPL 100.00 1 NM_000035.4
AP2S1 100.00 1 NM_000478.6
APRT 100.00 1 no
AQP2 100.00 1 NM_004069.6
ATP6V0A4 100.00 1 NM_000486.5
ATP6V1B1 100.00 1 NM_020632.3
ATP7B 100.00 1 NM_001692.4
AVPR2 100.00 1 NM_000053.4
BSND 100.00 1 NM_000054.6
CA2 100.00 1 no
CACNA1H 100.00 1 no
CASR 100.00 1 NM_057176.3
CLCN2 100.00 1 no
CLCN5 100.00 1 NM_000388.4
CLCNKA 100.00 1 no
CLCNKB 100.00 1 NM_001127898.4
CLDN10 100.00 1 NM_000085.5
CLDN16 100.00 1 NM_006984.5
CLDN19 100.00 1 NM_006580.3
CNNM2 100.00 1 NM_148960.3
CTNS 100.00 1 NM_017649.5
CUL3 100.00 1 NM_004937.3
CYP11B1 100.00 1 no
CYP17A1 100.00 1 no
CYP24A1 100.00 1 NM_003590.5
DMP1 100.00 1 no
EGF 100.00 1 NM_000782.5
EGFR 100.00 1 NM_001963.6
EHHADH 100.00 1 NM_005228.5
ENPP1 100.00 1 no
FAH 100.00 1 NM_001966.4
FAM20A 100.00 1 no
FAN1 100.00 1 NM_000137.4
FANCA 100.00 1 no
FGF23 100.00 1 NM_014967.5
FOXI1 100.00 1 no
FXYD2 100.00 1 NM_020638.3
G6PC1 100.00 1 NM_001680.5
GALT 100.00 1 NM_000151.4
GATM 100.00 1 NM_000155.4
GNA11 100.00 1 NM_001482.3
GRHPR 100.00 1 NM_002067.5
HNF1A 100.00 1 no
HNF1B 100.00 1 NM_012203.2
HNF4A 100.00 1 no
HOGA1 100.00 1 NM_000458.4
HPRT1 100.00 1 no
HSD11B2 100.00 1 NM_138413.4
KCNJ1 100.00 1 NM_000196.4
KCNJ10 100.00 1 NM_000220.6
KCNJ16 100.00 1 no
KCNJ5 100.00 1 no
KL 100.00 1 no
KLHL3 100.00 1 NM_002241.5
LAGE3 100.00 1 no
LDHD 100.00 1 no
LRP2 100.00 1 no
MAGED2 100.00 1 NM_017415.3
MEN1 100.00 1 no
MOCOS 100.00 1 no
NR3C2 100.00 1 NM_177433.3
OCRL 100.00 1 NM_000901.5
PCBD1 100.00 1 NM_000276.4
PHEX 100.00 1 NM_000281.4
PRPS1 100.00 1 no
REN 100.00 1 NM_000444.6
SCNN1A 100.00 1 NM_000537.4
SCNN1B 100.00 1 NM_001038.6
SCNN1G 100.00 1 NM_000336.3
SEC61A1 100.00 1 NM_001039.4
SLC12A1 100.00 1 NM_013336.4
SLC12A3 100.00 1 NM_000338.3
SLC16A12 100.00 1 no
SLC22A12 100.00 1 no
SLC2A2 100.00 1 NM_001126108.2
SLC2A9 100.00 1 no
SLC34A1 100.00 1 NM_000340.2
SLC34A3 100.00 1 NM_003052.5
SLC36A2 100.00 1 no
SLC3A1 100.00 1 NM_001177316.2
SLC4A1 100.00 1 NM_000341.4
SLC4A4 100.00 1 NM_000342.4
SLC5A1 100.00 1 no
SLC5A2 100.00 1 NM_001098484.3
SLC6A19 100.00 1 no
SLC6A20 100.00 1 no
SLC7A9 100.00 1 NM_003041.4
SLC9A3R1 100.00 1 NM_014270.5
TRPM6 100.00 1 NM_004252.5
UMOD 100.00 1 NM_017662.5
VDR 100.00 1 NM_001278614.2
VIPAS39 100.00 1 NM_000376.3
VPS33B 100.00 1 NM_001193314.2
WDR72 100.00 1 no
WFS1 100.00 1 no
WNK1 100.00 1 NM_018668.5
WNK4 100.00 1 NM_018979.4
XDH 100.00 1 no