SLC34A1 | Belgian Genetic Tests database

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Name:	solute carrier family 34 member 1
Symbol:	SLC34A1
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	NAPI-3 NPTIIa Na+-phosphate cotransporter type II SLC11 sodium/phosphate co-transporter solute carrier family 17 (sodium phosphate), member 2
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM Reactome SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

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Related Gene Panels

End-stage renal disease (106 genes) - IPG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ACTN4	100.00	1	NM_004924.6
AGT	100.00	1	NM_001384479.1
AGXT	100.00	1	NM_000030.3
AHI1	100.00	1	NM_001134831.2
ALMS1	100.00	1	NM_001378454.1
ANKFY1	100.00	1	NM_001330063.2
ANLN	100.00	1	NM_018685.5
APOL1	100.00	1	NM_003661.4
APRT	100.00	1	NM_000485.3
ARHGAP24	100.00	1	NM_001025616.3
ARHGDIA	100.00	1	NM_004309.6
AVIL	100.00	1	NM_006576.4
BNC2	100.00	1	NM_017637.6
BSND	100.00	1	NM_057176.3
CC2D2A	100.00	1	NM_001378615.1
CD151	100.00	1	NM_004357.5
CD2AP	100.00	1	NM_012120.3
CEP164	100.00	1	NM_014956.5
CEP290	100.00	1	NM_025114.4
CEP83	100.00	1	NM_016122.3
CFHR5	100.00	1	NM_030787.4
CLCN5	100.00	1	NM_001127898.4
CLCNKA	100.00	1	NM_004070.4
CLCNKB	100.00	1	NM_000085.5
COL4A3	100.00	1	NM_000091.5
COL4A4	100.00	1	NM_000092.5
COL4A5	100.00	1	NM_033380.3
COL4A6	100.00	1	NM_033641.4
COQ8B	100.00	1	NM_024876.4
CPT2	100.00	1	NM_000098.3
CRB2	100.00	1	NM_173689.7
CTNS	100.00	1	NM_004937.3
DCDC2	100.00	1	NM_016356.5
DGKE	100.00	1	NM_003647.3
DNAJB11	100.00	1	NM_016306.6
DSTYK	100.00	1	NM_015375.3
DZIP1L	100.00	1	NM_173543.3
EHHADH	100.00	1	NM_001966.4
EMP2	100.00	1	NM_001424.6
FAN1	100.00	1	NM_014967.5
FN1	100.00	1	NM_212482.4
GANAB	100.00	1	NM_198334.3
GAPVD1	100.00	1	NM_001282680.3
GATM	100.00	1	NM_001482.3
GLIS2	100.00	1	NM_032575.3
GON7	100.00	1	NM_032490.5
GSN	100.00	1	NM_198252.3
HNF1B	100.00	1	NM_000458.4
IFT140	100.00	1	NM_014714.4
IFT43	100.00	1	NM_001102564.3
INF2	100.00	1	NM_022489.4
INVS	100.00	1	NM_014425.5
IQCB1	100.00	1	NM_001023570.4
JAG1	100.00	1	NM_000214.3
LAGE3	100.00	1	NM_006014.5
LAMB2	100.00	1	NM_002292.4
LMX1B	100.00	1	NM_001174147.2
LZTFL1	100.00	1	NM_020347.4
MAGI2	100.00	1	NM_012301.4
MAPKBP1	100.00	1	NM_014994.3
MEFV	100.00	1	NM_000243.3
MMUT	100.00	1	NM_000255.4
MYO1E	100.00	1	NM_004998.4
MYOCD	100.00	1	NM_001146312.3
NDUFAF6	100.00	1	NM_152416.4
NEK8	100.00	1	NM_178170.3
NOS1AP	100.00	1	NM_014697.3
NPHP1	100.00	1	NM_001128178.3
NPHP3	100.00	1	NM_153240.5
NPHP4	100.00	1	NM_015102.5
NPHS1	100.00	1	NM_004646.4
NPHS2	100.00	1	NM_014625.4
NUP107	100.00	1	NM_020401.4
NUP133	100.00	1	NM_018230.3
NUP160	100.00	1	NM_015231.3
NUP205	100.00	1	NM_015135.3
NUP85	100.00	1	NM_024844.5
NUP93	100.00	1	NM_014669.5
OSGEP	100.00	1	NM_017807.4
PAX2	100.00	1	NM_000278.5
PKD1	100.00	1	NM_001009944.3
PKD2	100.00	1	NM_000297.4
PKHD1	100.00	1	NM_138694.4
PLCE1	100.00	1	NM_016341.4
PTPRO	100.00	1	NM_030667.3
RPGRIP1L	96.00	1	NM_015272.5
SDCCAG8	100.00	1	NM_006642.5
SGPL1	100.00	1	NM_003901.4
SLC34A1	100.00	1	NM_003052.5
SLC37A4	100.00	1	NM_001164279.2
SLC41A1	100.00	1	NM_173854.6
SMARCAL1	100.00	1	NM_014140.4
TBC1D8B	100.00	1	NM_017752.3
TMEM231	100.00	1	NM_001077418.3
TMEM67	100.00	1	NM_153704.6
TP53RK	100.00	1	NM_033550.4
TPRKB	100.00	1	NM_016058.5
TRAF3IP1	100.00	1	NM_015650.4
TRPC6	100.00	1	NM_004621.6
TSC1	100.00	1	NM_000368.5
TSC2	100.00	1	NM_000548.5
TTC21B	100.00	1	NM_024753.5
WDR19	100.00	1	NM_025132.4
WT1	100.00	1	NM_024426.6
XPNPEP3	100.00	1	NM_022098.4
YRDC	100.00	1	NM_024640.4

Genetic disorders of Calcium and Phosphate metabolism (31 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AIRE	95.00	NM_000383.4/ interpretable range CS1>95%
ALPL	95.00	NM_000478.6/ interpretable range CS1>95%
AP2S1	95.00	NM_004069.6/ interpretable range CS1>95%
CASR	95.00	NM_000388.4/ interpretable range CS1>95%
CDC73	95.00	NM_024529.5/ interpretable range CS1>95%
CDKN1B	95.00	NM_004064.5/ interpretable range CS1>95%
CLCN5	95.00	NM_000084.5/ interpretable range CS1>95%
CYP27B1	95.00	NM_000785.4/ interpretable range CS1>95%
CYP2R1	95.00	NM_024514.5/ interpretable range CS1>95%
DMP1	95.00	NM_004407.4/ interpretable range CS1>95%
ENPP1	95.00	NM_006208.3/ interpretable range CS1>95%
FAM20C	95.00	NM_020223.4/ interpretable range CS1>95%
FGF23	95.00	NM_020638.3/ interpretable range CS1>95%
GATA3	95.00	NM_001002295.2/ interpretable range CS1>95%
GCM2	95.00	NM_004752.4/ interpretable range CS1>95%
GNA11	95.00	NM_002067.5/ interpretable range CS1>95%
GNAS	95.00	NM_000516.7/ interpretable range CS1>95%
HADHA	95.00	NM_000182.5/ interpretable range CS1>95%
HADHB	95.00	NM_000183.3/ interpretable range CS1>95%
MEN1	95.00	NM_130799.3/ interpretable range CS1>95%
OCRL	95.00	NM_000276.4/ interpretable range CS1>95%
PHEX	95.00	NM_000444.6/ interpretable range CS1>95%
PTH	95.00	NM_000315.4/ interpretable range CS1>95%
PTH1R	95.00	NM_000316.3/ interpretable range CS1>95%
RET	95.00	NM_020975.6/ interpretable range CS1>95%
SLC34A1	95.00	NM_003052.5/ interpretable range CS1>95%
SLC34A3	95.00	NM_080877.3/ interpretable range CS1>95%
NHERF1	95.00	NM_004252.5/ interpretable range CS1>95%
STX16	95.00	NM_001001433.3/ interpretable range CS1>95%
TBCE	95.00	NM_003193.5/ interpretable range CS1>95%
VDR	95.00	NM_001017535.2/ interpretable range CS1>95%

Nephrocalcinosis and nephrolithiasis (37 genes) - IPG

Details

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
AGXT	100.00	1	NM_000030.3
APRT	100.00	1	NM_000485.3
ATP6V0A4	100.00	1	NM_020632.3
ATP6V1B1	100.00	1	NM_001692.4
BSND	100.00	1	NM_057176.3
CA2	100.00	1	NM_000067.3
CASR	100.00	1	NM_000388.4
CDC73	100.00	1	NM_024529.5
CLCN5	100.00	1	NM_001127898.4
CLDN16	100.00	1	NM_006580.4
CLDN19	100.00	1	NM_148960.3
CTNS	100.00	1	NM_004937.3
CYP24A1	100.00	1	NM_000782.5
FAM20A	100.00	1	NM_017565.4
GNA11	100.00	1	NM_002067.5
GRHPR	100.00	1	NM_012203.2
HNF4A	100.00	1	NM_175914.5
HOGA1	100.00	1	NM_138413.4
HPRT1	100.00	1	NM_000194.3
MEN1	100.00	1	NM_001370259.2
MOCOS	100.00	1	NM_017947.4
OCRL	100.00	1	NM_000276.4
PHEX	100.00	1	NM_000444.6
RRAGD	100.00	1	NM_021244.5
SLC22A12	100.00	1	NM_144585.4
SLC26A1	100.00	1	NM_022042.4
SLC2A9	100.00	1	NM_020041.3
SLC34A1	100.00	1	NM_003052.5
SLC34A3	100.00	1	NM_001177316.2
SLC3A1	100.00	1	NM_000341.4
SLC4A1	100.00	1	NM_000342.4
SLC7A9	100.00	1	NM_014270.5
NHERF1	100.00	1	NM_004252.5
VDR	100.00	1	NM_000376.3
XDH	100.00	1	NM_000379.4

Nephropathies, hereditary (219 genes) - KUL

Details

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

Nephropathy panel - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ACE	99.98	1
ACTG2	99.99	1
ACTN4	100.00	1
ADAMTS13	100.00	1
ADAMTS9	99.94	1
ADCY10	99.77	1
AGXT	100.00	1
AGTR1	99.97	1
AHI1	99.86	1
ALDOB	100.00	1
ALG1	86.66	1
ALG8	95.49	1
ALG9	99.73	1
ALMS1	99.90	1
ALPL	99.88	1
ABCD1	100.00	1
ANKS6	100.00	1
ANLN	99.85	1
ANOS1	99.96	1
AP2S1	99.98	1
APOA1	100.00	1
APOA2	99.84	1
APOL1	99.99	1
APRT	100.00	1
AQP2	100.00	1
ARHGAP24	99.86	1
ARHGDIA	100.00	1
ARL13B	99.53	1
ARL6	99.90	1
ARSA	99.99	1
ATP6V0A4	99.93	1
ATP6V1B1	99.98	1
ATP7B	100.00	1
NLRP3	100.00	1
AVPR2	100.00	1
B9D1	99.80	1
B9D2	99.88	1
BBIP1	99.99	1
BBS1	100.00	1
BBS10	99.98	1
BBS12	100.00	1
BBS2	99.90	1
BBS4	99.88	1
BBS5	99.00	1
BBS7	99.42	1
BBS9	99.75	1
BICC1	99.76	1
BMP4	100.00	1
BMP7	100.00	1
BSND	99.92	1
C3	100.00	1
C5	99.92	1
CA2	99.62	1
CACNA1S	99.96	1
CASR	99.99	1
CC2D2A	99.95	1
CCDC39	99.74	1
CCNQ	99.98	1
CD151	100.00	1
CD2AP	99.69	1
CD46	99.86	1
CDC5L	99.83	1
CDKN1C	100.00	1
CEP104	99.99	1
CEP120	99.90	1
CEP164	99.99	1
CEP290	98.10	1
CEP41	99.99	1
CEP83	98.68	1
CFAP418	100.00	1
CFB	99.97	1
CFH	99.12	1
CFHR1	84.44	1
CFHR2	90.26	1
CFHR3	91.62	1
CFHR4	99.86	1
CFHR5	99.68	1
CFI	99.87	1
CHD1L	98.53	1
CHD7	99.99	1
CHRM3	100.00	1
CHRNA3	99.95	1
CLCN5	99.67	1
CLCN7	99.99	1
CLCNKA	99.98	1
CLCNKB	99.98	1
CLDN10	99.97	1
CLDN16	99.98	1
CLDN19	99.02	1
CNNM2	99.94	1
COL4A1	99.99	1
COL4A3	99.94	1
COL4A4	99.95	1
COL4A5	99.64	1
COQ2	99.90	1
COQ6	99.94	1
COQ7	100.00	1
COQ8A	100.00	1
COQ8B	99.94	1
COQ9	99.62	1
CPLANE1	99.81	1
CPT2	99.65	1
CRB2	99.95	1
CSPP1	98.31	1
CTNS	100.00	1
CUBN	99.99	1
CUL3	99.76	1
CYP11B2	100.00	1
CYP24A1	100.00	1
DAAM2	99.99	1
DCDC2	99.96	1
DGKE	99.10	1
DMP1	99.99	1
DNAJB11	99.97	1
DSTYK	99.83	1
DYNC2H1	99.66	1
DYNC2I1	99.99	1
DZIP1L	98.46	1
EGF	99.96	1
EGFR	99.68	1
EHHADH	99.99	1
EMP2	100.00	1
ENPP1	99.88	1
EVC	99.95	1
EVC2	99.97	1
EYA1	99.81	1
FANCA	99.98	1
FAHD2A	100.00	1
FAM186B	99.99	1
FAM20A	100.00	1
FAN1	99.73	1
FAT1	99.99	1
FGA	99.98	1
FGF20	99.71	1
FGF23	100.00	1
FGFR1	100.00	1
FH	99.95	1
FLCN	99.51	1
FN1	99.95	1
FRAS1	99.97	1
FREM1	99.98	1
FREM2	99.97	1
FXYD2	100.00	1
G6PC1	99.93	1
GALNT3	99.52	1
GALT	100.00	1
GANAB	99.97	1
GATA3	99.96	1
GATM	99.92	1
GDNF	99.99	1
GLA	99.90	1
GLI3	100.00	1
GLIS2	100.00	1
GNA11	99.99	1
GON7	99.92	1
GPC3	99.60	1
GRHPR	99.93	1
GRIP1	99.83	1
GSN	99.93	1
HNF1B	100.00	1
HNF4A	100.00	1
HOGA1	100.00	1
HPRT1	97.80	1
HPSE2	100.00	1
HSD11B2	99.99	1
IFT122	99.98	1
IFT140	100.00	1
IFT172	99.98	1
IFT27	100.00	1
IFT43	99.97	1
IFT80	99.69	1
IFT81	94.64	1
INCENP	99.99	1
INF2	99.99	1
INPP5E	99.85	1
INVS	99.94	1
IQCB1	99.72	1
ITGA3	99.86	1
ITGA8	99.95	1
ITGB4	99.99	1
JAG1	100.00	1
KANK1	99.99	1
KANK2	99.99	1
KANK4	99.70	1
KCNA1	100.00	1
KCNJ1	100.00	1
KCNJ10	99.98	1
KIAA0586	95.75	1
KIF14	97.80	1
KIF7	100.00	1
KL	99.98	1
KLHL3	99.97	1
LAGE3	99.99	1
LAMB2	99.99	1
LMNA	99.96	1
LMX1B	100.00	1
LRIG2	97.97	1
LRP2	99.86	1
LRP5	99.95	1
LRP6	99.91	1
LYZ	99.86	1
LZTFL1	100.00	1
MAGED2	99.98	1
MAGI2	99.89	1
MAPKBP1	99.98	1
MET	99.97	1
MKKS	100.00	1
MKS1	99.92	1
MMACHC	99.98	1
MUC1	99.98	1
MYH9	99.95	1
MYO1E	99.94	1
NEIL1	99.99	1
NEK1	99.83	1
NEK9	99.99	1
NOTCH2	99.03	1
NPHP1	99.05	1
NPHP3	99.89	1
NPHP4	99.98	1
NPHS1	99.97	1
NPHS2	99.87	1
NR3C2	100.00	1
NUP107	97.46	1
NUP133	99.45	1
NUP205	99.92	1
NUP93	99.87	1
NXF5	96.29	1
OCRL	99.89	1
OFD1	99.68	1
PAX2	99.99	1
PAX8	99.99	1
PBX1	99.88	1
PCBD1	99.84	1
PDE6D	99.94	1
PDSS1	95.70	1
PDSS2	99.87	1
PHEX	99.83	1
PKD1	99.98	1
PKD2	99.91	1
PKHD1	99.95	1
PLCE1	99.98	1
PLG	99.89	1
PMM2	99.93	1
PRKCSH	99.99	1
PSAP	99.94	1
PTEN	99.89	1
PTPRO	99.91	1
PYGM	99.96	1
RBM48	99.09	1
RCOR1	99.97	1
REN	99.85	1
RET	99.97	1
ROBO2	99.80	1
RPGRIP1	99.95	1
RPGRIP1L	96.35	1
RRM2B	99.97	1
SALL1	100.00	1
SALL4	100.00	1
SARS2	99.99	1
SCARB2	99.99	1
SCNN1A	100.00	1
SCNN1B	99.38	1
SCNN1G	99.94	1
SDCCAG8	100.00	1
SDHB	97.32	1
SDHD	82.93	1
SEC61A1	99.99	1
SEC63	99.84	1
SGPL1	99.95	1
SIX1	100.00	1
SIX2	100.00	1
SIX5	100.00	1
SLC12A1	99.90	1
SLC12A3	99.84	1
SLC22A12	99.99	1
SLC26A1	100.00	1
SLC26A3	99.97	1
SLC2A2	99.96	1
SLC2A9	99.98	1
SLC34A1	99.99	1
SLC34A3	100.00	1
SLC37A4	99.90	1
SLC3A1	99.98	1
SLC41A1	99.98	1
SLC4A1	99.94	1
SLC4A4	99.97	1
SLC7A9	99.97	1
NHERF1	100.00	1
SMARCAL1	99.97	1
SOX17	100.00	1
SRGAP1	99.68	1
STRADA	99.98	1
STX16	100.00	1
SYNPO	100.00	1
TBC1D1	99.96	1
TBC1D8B	99.31	1
TBX18	99.50	1
TCTN1	99.92	1
TCTN2	99.99	1
TCTN3	99.92	1
THBD	100.00	1
TMEM107	100.00	1
TMEM138	100.00	1
TMEM216	99.98	1
TMEM231	88.88	1
TMEM237	99.30	1
TMEM67	99.69	1
TNFRSF25	99.98	1
TNXB	90.86	1
TP53RK	81.09	1
TRAP1	100.00	1
TRIM32	100.00	1
TRPC6	99.99	1
TRPM6	99.93	1
TSC1	99.99	1
TSC2	99.98	1
TTC21B	99.50	1
TTC8	99.67	1
UMOD	99.98	1
UPK3A	100.00	1
UPK3B	99.62	1
VDR	99.86	1
VHL	100.00	1
VIPAS39	99.87	1
VPS33B	99.95	1
WDPCP	99.87	1
WDR19	99.80	1
WDR35	99.92	1
WDR4	99.95	1
WDR73	99.92	1
WNK1	99.98	1
WNK4	99.98	1
WNT4	99.94	1
WT1	99.99	1
XDH	99.97	1
XPNPEP3	99.99	1
XPO5	99.89	1
YRDC	99.85	1
ZMPSTE24	98.70	1
ZMYM2	99.88	1
ZNF423	98.94	1

Panel Nephro-ULG-V1

Details

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

Skeletal dysplasia - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABCC9	99.92	1
ABL1	100.00	1
ACAN	91.51	1
ACP5	100.00	1
ACVR1	99.94	1
ADAMTS10	99.99	1
ADAMTS17	99.99	1
ADAMTSL2	99.99	1
AFF4	99.94	1
AGA	99.92	1
AGPS	98.83	1
AHDC1	100.00	1
AKT1	100.00	1
ALG12	100.00	1
ALG3	99.96	1
ALG9	99.73	1
ALPL	99.88	1
ALX1	97.99	1
ALX3	99.74	1
ALX4	100.00	1
AMER1	100.00	1
ANAPC1	75.83	1
ANKH	99.95	1
ANKRD11	99.85	1
ANO5	99.85	1
ANTXR2	99.67	1
ARHGAP31	100.00	1
ARID1A	99.83	1
ARID1B	99.69	1
SLURP1	99.99	1
ARSL	99.93	1
ASXL1	100.00	1
ASXL2	99.82	1
ATP6V0A2	99.92	1
B3GALT6	100.00	1
B3GAT3	87.74	1
B3GLCT	99.90	1
B4GALT7	99.99	1
B9D1	99.80	1
BBS1	100.00	1
BBS10	99.98	1
BBS12	100.00	1
BBS2	99.90	1
BBS4	99.88	1
BBS5	99.00	1
BBS7	99.42	1
BBS9	99.75	1
BHLHA9	100.00	1
BMP1	99.94	1
BMP2	99.79	1
BMPER	99.94	1
BMPR1B	99.61	1
BPNT2	100.00	1
C2CD3	99.88	1
CA2	99.62	1
CANT1	100.00	1
CASR	99.99	1
CC2D2A	99.95	1
CCDC134	100.00	1
CCDC8	100.00	1
CCN6	99.89	1
CCNQ	99.98	1
CD96	99.91	1
CDC45	99.77	1
CDC6	99.85	1
CDH3	99.98	1
CDKN1C	100.00	1
CDT1	100.00	1
CEP120	99.90	1
CEP290	98.10	1
CFAP410	100.00	1
CHD7	99.99	1
CHST14	100.00	1
CHST3	100.00	1
CHSY1	99.99	1
CILK1	99.69	1
CKAP2L	99.54	1
CLCN5	99.67	1
CLCN7	99.99	1
COG1	100.00	1
COG4	99.96	1
COL10A1	100.00	1
COL11A1	90.72	1
COL11A2	99.99	1
COL1A1	99.90	1
COL1A2	99.34	1
COL2A1	99.87	1
COL9A1	99.91	1
COL9A2	98.76	1
COL9A3	99.99	1
COLEC11	100.00	1
COMP	100.00	1
CPLANE1	99.81	1
CREB3L1	99.88	1
CREBBP	99.97	1
CRTAP	99.98	1
CSF1R	99.92	1
CSGALNACT1	100.00	1
CSPP1	98.31	1
CTSA	99.98	1
CTSC	99.97	1
CTSK	99.31	1
CUL7	100.00	1
CYP27B1	99.98	1
CYP2R1	99.96	1
DCC	99.96	1
DDR2	99.58	1
RIGI	99.84	1
DDX59	99.67	1
DHCR24	99.93	1
DHCR7	99.97	1
DHODH	99.99	1
DIP2C	100.00	1
DLL3	100.00	1
DLL4	100.00	1
DLX3	99.98	1
DLX5	99.98	1
DLX6	99.82	1
DMP1	99.99	1
DNMT3A	100.00	1
DOCK6	100.00	1
DPAGT1	100.00	1
DPM1	90.68	1
DSPP	99.99	1
DVL1	100.00	1
DVL3	99.99	1
DYM	99.96	1
DYNC2H1	99.66	1
DYNC2I1	99.99	1
DYNC2I2	99.98	1
DYNC2LI1	99.94	1
DYNLT2B	100.00	1
GLB1	100.00	1
EDNRA	99.97	1
EFNA4	99.92	1
EFNB1	99.95	1
EFTUD2	99.93	1
EIF2AK3	97.43	1
EIF4A3	99.99	1
ENPP1	99.88	1
EOGT	99.09	1
EP300	99.97	1
ERCC4	99.92	1
ERF	99.98	1
ESCO2	99.92	1
EVC	99.95	1
EVC2	99.97	1
EXT1	99.94	1
EXT2	99.98	1
EXTL3	99.99	1
EZH2	99.89	1
FAM111A	100.00	1
FAM20C	100.00	1
FBLN1	98.69	1
FBN1	99.85	1
FBN2	99.90	1
FBXW4	99.31	1
FERMT3	99.99	1
FGF10	99.95	1
FGF16	99.60	1
FGF23	100.00	1
FGF3	99.97	1
FGF4	100.00	1
FGF8	100.00	1
FGF9	100.00	1
FGFR1	100.00	1
FGFR2	99.99	1
FGFR3	100.00	1
FIG4	99.83	1
FKBP10	99.98	1
FLNA	99.99	1
FLNB	99.98	1
FMN1	99.98	1
FREM1	99.98	1
FUCA1	98.72	1
FZD2	99.98	1
GALNS	99.98	1
GALNT3	99.52	1
GDF3	100.00	1
GDF5	100.00	1
GDF6	100.00	1
GFER	100.00	1
GJA1	100.00	1
GLI3	100.00	1
GNAS	100.00	1
GNPAT	99.78	1
GNPNAT1	99.99	1
GNPTAB	99.76	1
GNPTG	100.00	1
GNS	99.59	1
GORAB	99.59	1
GPC6	99.98	1
GPX4	100.00	1
GREM1	100.00	1
GUSB	95.07	1
GZF1	100.00	1
HDAC4	99.98	1
HDAC8	99.74	1
HES7	100.00	1
HGSNAT	99.93	1
HNRNPK	99.93	1
HOXA11	99.99	1
HOXA13	99.94	1
HOXD13	99.98	1
HPGD	99.98	1
HS2ST1	95.79	1
HSPG2	99.87	1
IDH1	99.91	1
IDH2	100.00	1
IDS	99.82	1
IDUA	99.99	1
IFIH1	99.84	1
IFITM5	100.00	1
IFT122	99.98	1
IFT140	100.00	1
IFT172	99.98	1
IFT43	99.97	1
IFT52	99.82	1
IFT80	99.69	1
IFT81	94.64	1
IHH	100.00	1
IKBKG	57.34	1
IL11RA	99.98	1
IL1RN	99.64	1
INPPL1	99.97	1
KAT6B	99.79	1
KDELR2	99.98	1
KIAA0753	100.00	1
KIAA1217	99.99	1
KIF22	99.89	1
KIF7	100.00	1
KMT2D	99.98	1
LBR	99.66	1
LEMD3	99.07	1
LFNG	100.00	1
LIFR	99.69	1
LMBR1	99.88	1
LMNA	99.96	1
LMX1B	100.00	1
LONP1	99.99	1
LPIN2	100.00	1
CORIN	99.89	1
LRP5	99.95	1
LTBP2	99.97	1
MAFB	100.00	1
MAN2B1	99.99	1
MAN2C1	99.96	1
MAP3K7	99.33	1
MASP1	99.99	1
MATN3	99.97	1
MBTPS2	99.81	1
MEGF8	99.90	1
MEOX1	99.99	1
MESP2	99.99	1
MGP	99.95	1
MIA2	99.72	1
MIA3	99.84	1
MKKS	100.00	1
MKS1	99.92	1
MMP13	99.96	1
MMP2	99.96	1
MMP9	100.00	1
MNX1	99.83	1
MPDU1	99.97	1
MSX2	100.00	1
MTX2	99.20	1
MYCN	100.00	1
MYL11	99.85	1
NAGLU	100.00	1
NANS	100.00	1
NBAS	99.86	1
NEK1	99.83	1
NEU1	99.98	1
NF1	99.88	1
NFIX	99.99	1
NIPBL	99.34	1
NKX3-2	99.99	1
NLRP3	100.00	1
NOG	100.00	1
NOTCH1	99.98	1
NOTCH2	99.03	1
NPPC	100.00	1
NPRL2	99.99	1
NSD1	99.98	1
NSDHL	99.87	1
NXN	99.92	1
OBSL1	100.00	1
OFD1	99.68	1
SLC25A15	99.70	1
ORC4	99.70	1
ORC6	99.82	1
OSTM1	99.56	1
P3H1	99.89	1
P4HB	99.99	1
PAM16	100.00	1
PAN2	99.95	1
PAPSS2	99.91	1
PAX3	100.00	1
PCNT	99.97	1
PCYT1A	100.00	1
PDE3A	99.97	1
PDE4D	99.89	1
PEX5	99.89	1
PEX7	99.72	1
PGM3	99.94	1
PHEX	99.83	1
PHGDH	99.79	1
PIGT	99.95	1
PIGV	100.00	1
PIK3C2A	99.92	1
PIK3CA	99.74	1
PISD	100.00	1
PITX1	100.00	1
PLEKHM1	99.77	1
PLOD2	99.66	1
PLS3	99.75	1
POC1A	99.98	1
POLR1A	99.93	1
POLR1C	100.00	1
POLR1D	100.00	1
BVES	99.94	1
PORCN	99.98	1
PPIB	100.00	1
PRKAR1A	100.00	1
PRKG2	99.75	1
PRMT7	99.95	1
PSAT1	99.98	1
PSPH	99.09	1
PTDSS1	99.95	1
PTH1R	99.93	1
PTHLH	99.89	1
PTPN11	99.98	1
PUF60	100.00	1
PYCR1	99.99	1
RAB23	99.97	1
RAB33B	100.00	1
RAD21	99.91	1
RASGRP2	100.00	1
RBM8A	99.37	1
RBPJ	99.96	1
RECQL4	100.00	1
RFT1	99.79	1
RIN1	100.00	1
RNU4ATAC	99.95	1
ROR2	99.99	1
RPGRIP1L	96.35	1
RPL13	99.96	1
RUNX2	100.00	1
SALL1	100.00	1
SALL4	100.00	1
SBDS	99.93	1
SCARF2	99.94	1
SCUBE3	99.96	1
SEC24D	99.94	1
SERPINF1	100.00	1
SERPINH1	100.00	1
SETD2	99.91	1
SF3B4	99.65	1
SFRP4	99.99	1
SGSH	100.00	1
SH3BP2	100.00	1
SH3PXD2B	100.00	1
SHH	100.00	1
SHOX	92.70	1
HHAT	99.98	1
SLC10A7	99.95	1
SLC17A5	99.71	1
SLC26A2	100.00	1
SLC29A3	99.98	1
SLC34A1	99.99	1
SLC34A3	100.00	1
SLC35C1	100.00	1
SLC35D1	87.50	1
SLC39A13	99.98	1
SLCO2A1	99.99	1
SLCO5A1	99.98	1
SMAD3	99.99	1
SMAD4	99.97	1
SMARCAL1	99.97	1
SMC1A	99.98	1
SMC3	99.91	1
SMO	99.99	1
SMOC1	100.00	1
SNRPB	99.96	1
SNX10	99.96	1
SOST	100.00	1
SOX9	100.00	1
SP7	100.00	1
SPARC	99.94	1
SUCO	98.05	1
SULF1	99.99	1
SUMF1	99.95	1
TALDO1	100.00	1
TAPT1	99.64	1
TBCE	99.91	1
TBX15	99.81	1
TBX3	100.00	1
TBX4	99.96	1
TBX5	99.98	1
TBX6	99.99	1
TBXAS1	100.00	1
TCF12	99.97	1
TCIRG1	99.99	1
TCOF1	99.99	1
TCTN2	99.99	1
TCTN3	99.92	1
TENT5A	99.97	1
TERT	100.00	1
TGFB1	100.00	1
TGFB2	99.87	1
TGFBR1	99.94	1
TGFBR2	99.98	1
THPO	100.00	1
TMEM165	99.97	1
TMEM216	99.98	1
TMEM231	88.88	1
TMEM38B	99.95	1
TMEM67	99.69	1
TNFRSF11A	100.00	1
TNFRSF11B	100.00	1
TNFSF11	99.89	1
TONSL	100.00	1
TP63	99.97	1
TRAPPC2	99.41	1
TREM2	100.00	1
TRIP11	99.90	1
TRPS1	100.00	1
TRPV4	100.00	1
TRPV6	99.99	1
TTC21B	99.50	1
TTC8	99.67	1
TWIST1	100.00	1
TYROBP	99.95	1
VDR	99.86	1
VPS35L	99.07	1
WDPCP	99.87	1
WDR19	99.80	1
WDR35	99.92	1
WNT1	99.97	1
WNT10B	99.97	1
WNT3	99.99	1
WNT3A	100.00	1
WNT5A	100.00	1
WNT7A	99.99	1
XRCC4	99.89	1
XYLT1	99.98	1
XYLT2	99.97	1
ZMPSTE24	98.70	1
ZSWIM6	98.94	1

Tubulopathy/Nephrolithiasis (106 genes) - IPG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ADCY10	100.00	1	NM_018417.6
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
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
CASR	100.00	1	NM_000388.4
CLCN5	100.00	1	NM_001127898.4
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
CYP24A1	100.00	1	NM_000782.5
EGF	100.00	1	NM_001963.6
EGFR	100.00	1	NM_005228.5
EHHADH	100.00	1	NM_001966.4
FAH	100.00	1	NM_000137.4
FAN1	100.00	1	NM_014967.5
FGF23	100.00	1	NM_020638.3
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
HNF1B	100.00	1	NM_000458.4
HOGA1	100.00	1	NM_138413.4
HSD11B2	100.00	1	NM_000196.4
KCNJ1	100.00	1	NM_153766.3
KCNJ10	100.00	1	NM_002241.5
KLHL3	100.00	1	NM_017415.3
MAGED2	100.00	1	NM_177433.3
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
REN	100.00	1	NM_000537.4
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
SLC2A2	100.00	1	NM_000340.2
SLC34A1	100.00	1	NM_003052.5
SLC34A3	100.00	1	NM_001177316.2
SLC3A1	100.00	1	NM_000341.4
SLC4A1	100.00	1	NM_000342.4
SLC4A4	100.00	1	NM_001098484.3
SLC5A2	100.00	1	NM_003041.4
SLC7A9	100.00	1	NM_014270.5
NHERF1	100.00	1	NM_004252.5
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
WNK1	100.00	1	NM_018979.4
WNK4	100.00	1	NM_032387.5
AGTR1	100.00	1	NM_000685.5
APRT	100.00	1	NM_000485.3
CA2	100.00	1	NM_000067.3
CACNA1H	100.00	1	NM_021098.3
CLCN2	100.00	1	NM_004366.6
CLCNKA	100.00	1	NM_004070.4
CYP11B1	100.00	1	NM_000497.4
CYP17A1	100.00	1	NM_000102.4
DMP1	100.00	1	NM_004407.4
ENPP1	100.00	1	NM_006208.3
FANCA	100.00	1	no
FAM20A	100.00	1	NM_017565.4
FOXI1	100.00	1	NM_012188.5
HNF1A	100.00	1	NM_000545.8
HNF4A	100.00	1	NM_175914.5
HPRT1	100.00	1	NM_000194.3
KCNJ16	100.00	1	NM_170741.4
KCNJ5	100.00	1	NM_000890.5
KL	100.00	1	NM_004795.4
LAGE3	100.00	1	NM_006014.5
LDHD	100.00	1	NM_194436.3
LRP2	100.00	1	NM_004525.3
MEN1	100.00	1	NM_001370259.2
MOCOS	100.00	1	NM_017947.4
PRPS1	100.00	1	NM_002764.4
SLC16A12	100.00	1	NM_213606.4
SLC22A12	100.00	1	NM_144585.4
SLC2A9	100.00	1	NM_020041.3
SLC36A2	100.00	1	NM_181776.3
SLC5A1	100.00	1	NM_000343.4
SLC6A19	100.00	1	NM_001003841.3
SLC6A20	100.00	1	NM_020208.4
WDR72	100.00	1	NM_182758.4
WFS1	100.00	1	NM_006005.3
XDH	100.00	1	NM_000379.4
AGT	100.00	1	NM_001384479.1
CDC73	100.00	1	NM_024529.5
RRAGD	100.00	1	NM_021244.5
SLC26A1	100.00	1	NM_022042.4
SLC41A1	100.00	1	NM_173854.6