Panel Nephro-ULG-V1
Full name: |
Panel Nephro-ULG-V1
|
Abbreviation: |
Inherited Kidney Disease
|
Description: |
Exome filtration for 323 genes
|
Type of panel: | |
Provider: |
Twist
|
Version number: |
1
|
Laboratory: | |
Created: |
15 Dec 2023 - 11:22
|
Changed: |
15 Dec 2023 - 12:42
|
Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
---|---|---|---|
ACE | 97.24 | 0 | , |
ACTG2 | 100.00 | 0 | , |
ACTN4 | 100.00 | 0 | , |
ADAMTS13 | 96.63 | 0 | , |
ADAMTS9 | 100.00 | 0 | , |
ADCY10 | 100.00 | 0 | , |
AGT | 100.00 | 0 | , |
AGTR1 | 100.00 | 0 | , |
AGXT | 100.00 | 0 | , |
ALDOB | 100.00 | 0 | , |
ALG5 | 100.00 | 0 | , |
ALG8 | 100.00 | 0 | , |
ALG9 | 99.28 | 0 | , |
ALMS1 | 100.00 | 0 | , |
ALPL | 100.00 | 0 | , |
AMN | 86.23 | 0 | , |
ANKS6 | 91.46 | 0 | , |
ANLN | 100.00 | 0 | , |
ANOS1 | 94.70 | 0 | , |
AP2S1 | 100.00 | 0 | , |
APOA1 | 100.00 | 0 | , |
APOL1 | 100.00 | 0 | , |
APRT | 100.00 | 0 | , |
AQP2 | 100.00 | 0 | , |
ARHGAP24 | 99.80 | 0 | , |
ARHGDIA | 100.00 | 0 | , |
ARL6 | 100.00 | 0 | , |
ATP6V0A4 | 100.00 | 0 | , |
ATP6V1B1 | 100.00 | 0 | , |
ATP7B | 100.00 | 0 | , |
ATXN10 | 99.92 | 0 | , |
AVIL | 100.00 | 0 | , |
AVPR2 | 100.00 | 0 | , |
B2M | 100.00 | 0 | , |
B9D1 | 100.00 | 0 | , |
B9D2 | 100.00 | 0 | , |
BBIP1 | 100.00 | 0 | , |
BBS1 | 100.00 | 0 | , |
BBS10 | 100.00 | 0 | , |
BBS12 | 100.00 | 0 | , |
BBS2 | 100.00 | 0 | , |
BBS4 | 100.00 | 0 | , |
BBS5 | 100.00 | 0 | , |
BBS7 | 100.00 | 0 | , |
BBS9 | 100.00 | 0 | , |
BICC1 | 99.81 | 0 | , |
BMP4 | 100.00 | 0 | , |
BMP7 | 100.00 | 0 | , |
BNC2 | 100.00 | 0 | , |
BSND | 100.00 | 0 | , |
C3 | 100.00 | 0 | , |
CA2 | 100.00 | 0 | , |
CASR | 100.00 | 0 | , |
CC2D2A | 100.00 | 0 | , |
CCNQ | 82.12 | 0 | , |
CD151 | 100.00 | 0 | , |
CD2AP | 100.00 | 0 | , |
CD46 | 100.00 | 0 | , |
CDC5L | 100.00 | 0 | , |
CDC73 | 100.00 | 0 | , |
CENPF | 100.00 | 0 | , |
CEP164 | 100.00 | 0 | , |
CEP290 | 99.95 | 0 | , |
CEP41 | 100.00 | 0 | , |
CEP55 | 100.00 | 0 | , |
CEP83 | 100.00 | 0 | , |
CFB | 100.00 | 0 | , |
CFH | 100.00 | 0 | , |
CFHR1 | 95.06 | 0 | , |
CFHR3 | 99.44 | 0 | , |
CFHR5 | 100.00 | 0 | , |
CFI | 100.00 | 0 | , |
CHD1L | 99.95 | 0 | , |
CHD7 | 100.00 | 0 | , |
CHRM3 | 100.00 | 0 | , |
CHRNA3 | 99.35 | 0 | , |
CLCN5 | 100.00 | 0 | , |
CLCNKA | 100.00 | 0 | , |
CLCNKB | 100.00 | 0 | , |
CLDN10 | 100.00 | 0 | , |
CLDN16 | 100.00 | 0 | , |
CLDN19 | 100.00 | 0 | , |
CNNM2 | 99.42 | 0 | , |
COL4A1 | 99.52 | 0 | , |
COL4A3 | 99.47 | 0 | , |
COL4A4 | 100.00 | 0 | , |
COL4A5 | 99.90 | 0 | , |
COL4A6 | 99.82 | 0 | , |
COQ2 | 95.50 | 0 | , |
COQ6 | 100.00 | 0 | , |
COQ8A | 100.00 | 0 | , |
COQ8B | 100.00 | 0 | , |
CRB2 | 94.59 | 0 | , |
CSPP1 | 100.00 | 0 | , |
CTNS | 100.00 | 0 | , |
CTU2 | 98.44 | 0 | , |
CUBN | 100.00 | 0 | , |
CUL3 | 100.00 | 0 | , |
CYP24A1 | 100.00 | 0 | , |
DAAM2 | 100.00 | 0 | , |
DCDC2 | 100.00 | 0 | , |
DGKE | 100.00 | 0 | , |
DHCR7 | 99.99 | 0 | , |
DIS3L2 | 100.00 | 0 | , |
DMP1 | 100.00 | 0 | , |
DNAJB11 | 100.00 | 0 | , |
DSTYK | 100.00 | 0 | , |
DYNC2H1 | 99.97 | 0 | , |
DZIP1L | 100.00 | 0 | , |
EGF | 100.00 | 0 | , |
EGFR | 99.63 | 0 | , |
EHHADH | 100.00 | 0 | , |
EMP2 | 100.00 | 0 | , |
EYA1 | 100.00 | 0 | , |
FAH | 100.00 | 0 | , |
FAM20A | 99.78 | 0 | , |
FAN1 | 100.00 | 0 | , |
FAT1 | 100.00 | 0 | , |
FGA | 100.00 | 0 | , |
FGF20 | 99.13 | 0 | , |
FGF23 | 100.00 | 0 | , |
FH | 100.00 | 0 | , |
FLCN | 100.00 | 0 | , |
FN1 | 99.98 | 0 | , |
FRAS1 | 100.00 | 0 | , |
FREM1 | 100.00 | 0 | , |
FREM2 | 100.00 | 0 | , |
FXYD2 | 100.00 | 0 | , |
G6PC1 | 100.00 | 0 | , |
GALT | 100.00 | 0 | , |
GANAB | 100.00 | 0 | , |
GATA3 | 100.00 | 0 | , |
GATM | 100.00 | 0 | , |
GLA | 100.00 | 0 | , |
GLI3 | 100.00 | 0 | , |
GLIS2 | 100.00 | 0 | , |
GNA11 | 99.87 | 0 | , |
GPC3 | 99.84 | 0 | , |
GREB1L | 100.00 | 0 | , |
GRHPR | 100.00 | 0 | , |
GRIP1 | 100.00 | 0 | , |
GSN | 100.00 | 0 | , |
HAAO | 100.00 | 0 | , |
HNF1B | 100.00 | 0 | , |
HNF4A | 100.00 | 0 | , |
HOGA1 | 100.00 | 0 | , |
HOXA13 | 71.26 | 0 | , |
HPRT1 | 97.10 | 0 | , |
HPSE2 | 100.00 | 0 | , |
HSD11B2 | 78.40 | 0 | , |
IFT122 | 100.00 | 0 | , |
IFT140 | 99.96 | 0 | , |
IFT172 | 100.00 | 0 | , |
IFT27 | 100.00 | 0 | , |
IFT80 | 100.00 | 0 | , |
INF2 | 99.98 | 0 | , |
INVS | 100.00 | 0 | , |
IQCB1 | 100.00 | 0 | , |
ITGA3 | 99.70 | 0 | , |
ITGA8 | 99.76 | 0 | , |
JAG1 | 99.83 | 0 | , |
KANK1 | 100.00 | 0 | , |
KANK2 | 100.00 | 0 | , |
KANK4 | 100.00 | 0 | , |
KCNA1 | 100.00 | 0 | , |
KCNJ1 | 100.00 | 0 | , |
KCNJ10 | 100.00 | 0 | , |
KCNJ16 | 100.00 | 0 | , |
KDM6A | 99.90 | 0 | , |
KL | 95.50 | 0 | , |
KLHL3 | 100.00 | 0 | , |
KMT2D | 100.00 | 0 | , |
KYNU | 99.98 | 0 | , |
LAMA5 | 98.59 | 0 | , |
LAMB2 | 100.00 | 0 | , |
LIFR | 100.00 | 0 | , |
LMX1B | 100.00 | 0 | , |
LRIG2 | 99.95 | 0 | , |
LRP2 | 100.00 | 0 | , |
LRP4 | 99.14 | 0 | , |
LRP5 | 97.83 | 0 | , |
LRP6 | 100.00 | 0 | , |
LYZ | 100.00 | 0 | , |
LZTFL1 | 100.00 | 0 | , |
MAGED2 | 99.94 | 0 | , |
MAGI2 | 93.63 | 0 | , |
MAPKBP1 | 100.00 | 0 | , |
MET | 100.00 | 0 | , |
MKKS | 100.00 | 0 | , |
MKS1 | 100.00 | 0 | , |
MMACHC | 100.00 | 0 | , |
MUC1 | 100.00 | 0 | , |
MYH9 | 100.00 | 0 | , |
MYO1E | 100.00 | 0 | , |
MYOCD | 100.00 | 0 | , |
NADSYN1 | 100.00 | 0 | , |
NEK8 | 100.00 | 0 | , |
NHERF1 | 100.00 | 0 | , |
NIPBL | 100.00 | 0 | , |
NOTCH2 | 100.00 | 0 | , |
NPHP1 | 100.00 | 0 | , |
NPHP3 | 99.73 | 0 | , |
NPHP4 | 100.00 | 0 | , |
NPHS1 | 100.00 | 0 | , |
NPHS2 | 100.00 | 0 | , |
NR3C2 | 100.00 | 0 | , |
NRIP1 | 100.00 | 0 | , |
NUP107 | 100.00 | 0 | , |
NUP133 | 100.00 | 0 | , |
NUP160 | 100.00 | 0 | , |
NUP205 | 100.00 | 0 | , |
NUP85 | 100.00 | 0 | , |
NUP93 | 100.00 | 0 | , |
NXF5 | 0.00 | 0 | , |
OCRL | 99.96 | 0 | , |
OFD1 | 100.00 | 0 | , |
PAX2 | 100.00 | 0 | , |
PBX1 | 100.00 | 0 | , |
PCBD1 | 92.70 | 0 | , |
PDE6D | 100.00 | 0 | , |
PDSS2 | 100.00 | 0 | , |
PHEX | 98.98 | 0 | , |
PKD1 | 96.86 | 0 | , |
PKD2 | 92.32 | 0 | , |
PKHD1 | 100.00 | 0 | , |
PLCE1 | 100.00 | 0 | , |
PLG | 100.00 | 0 | , |
PLVAP | 100.00 | 0 | , |
PMM2 | 100.00 | 0 | , |
PODXL | 90.59 | 0 | , |
PRKCSH | 100.00 | 0 | , |
PTPRO | 100.00 | 0 | , |
REN | 100.00 | 0 | , |
RET | 99.35 | 0 | , |
ROBO1 | 100.00 | 0 | , |
ROBO2 | 100.00 | 0 | , |
ROR2 | 98.01 | 0 | , |
RPGRIP1L | 99.18 | 0 | , |
RRAGD | 99.90 | 0 | , |
RRM2B | 100.00 | 0 | , |
SALL1 | 100.00 | 0 | , |
SARS2 | 100.00 | 0 | , |
SCARB2 | 100.00 | 0 | , |
SCNN1A | 100.00 | 0 | , |
SCNN1B | 100.00 | 0 | , |
SCNN1G | 100.00 | 0 | , |
SDCCAG8 | 100.00 | 0 | , |
SDHB | 100.00 | 0 | , |
SDHD | 100.00 | 0 | , |
SEC61A1 | 100.00 | 0 | , |
SEC63 | 99.95 | 0 | , |
SGPL1 | 99.92 | 0 | , |
SIX1 | 100.00 | 0 | , |
SIX2 | 100.00 | 0 | , |
SIX5 | 93.51 | 0 | , |
SLC12A1 | 100.00 | 0 | , |
SLC12A3 | 100.00 | 0 | , |
SLC1A1 | 100.00 | 0 | , |
SLC22A12 | 100.00 | 0 | , |
SLC26A1 | 100.00 | 0 | , |
SLC26A3 | 100.00 | 0 | , |
SLC2A2 | 100.00 | 0 | , |
SLC2A9 | 100.00 | 0 | , |
SLC34A1 | 100.00 | 0 | , |
SLC34A3 | 100.00 | 0 | , |
SLC3A1 | 100.00 | 0 | , |
SLC41A1 | 100.00 | 0 | , |
SLC4A1 | 100.00 | 0 | , |
SLC4A4 | 100.00 | 0 | , |
SLC5A2 | 100.00 | 0 | , |
SLC6A19 | 100.00 | 0 | , |
SLC7A7 | 100.00 | 0 | , |
SLC7A9 | 100.00 | 0 | , |
SLIT2 | 99.95 | 0 | , |
SMARCAL1 | 100.00 | 0 | , |
SOX17 | 99.26 | 0 | , |
STRA6 | 100.00 | 0 | , |
STX16 | 100.00 | 0 | , |
TBC1D1 | 100.00 | 0 | , |
TBC1D8B | 100.00 | 0 | , |
TBX18 | 99.84 | 0 | , |
TCTN2 | 100.00 | 0 | , |
TCTN3 | 100.00 | 0 | , |
TFAP2A | 100.00 | 0 | , |
THBD | 100.00 | 0 | , |
TMEM138 | 100.00 | 0 | , |
TMEM216 | 100.00 | 0 | , |
TMEM231 | 100.00 | 0 | , |
TMEM237 | 100.00 | 0 | , |
TMEM260 | 97.92 | 0 | , |
TMEM67 | 100.00 | 0 | , |
TRAP1 | 95.57 | 0 | , |
TRIM32 | 100.00 | 0 | , |
TRIM8 | 100.00 | 0 | , |
TRPC6 | 100.00 | 0 | , |
TRPM6 | 100.00 | 0 | , |
TSC1 | 100.00 | 0 | , |
TSC2 | 100.00 | 0 | , |
TTC21B | 50.00 | 0 | , |
TTC8 | 100.00 | 0 | , |
TTR | 100.00 | 0 | , |
TULP3 | 100.00 | 0 | , |
UMOD | 100.00 | 0 | , |
UPK3A | 100.00 | 0 | , |
VHL | 100.00 | 0 | , |
VIPAS39 | 100.00 | 0 | , |
VPS33B | 100.00 | 0 | , |
WBP11 | 100.00 | 0 | , |
WDPCP | 100.00 | 0 | , |
WDR19 | 100.00 | 0 | , |
WDR35 | 100.00 | 0 | , |
WDR73 | 100.00 | 0 | , |
WNK1 | 100.00 | 0 | , |
WNK4 | 100.00 | 0 | , |
WNT4 | 93.15 | 0 | , |
WNT5A | 88.79 | 0 | , |
WT1 | 95.16 | 0 | , |
XDH | 100.00 | 0 | , |
XPNPEP3 | 100.00 | 0 | , |
XPO5 | 99.80 | 0 | , |
ZIC3 | 100.00 | 0 | , |
ZMYM2 | 99.97 | 0 | , |
ZNF423 | 100.00 | 0 | , |