AP2S1 | Belgian Genetic Tests database

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Name:	adaptor related protein complex 2 subunit sigma 1
Symbol:	AP2S1
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	FBH3 FBHOk sigma-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

Endocrine Disorders - Hyper(Hypo)parathyroidism (24 genes) - ULB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
AIRE	0.00	0	,
AP2S1	0.00	0	,
CASR	0.00	0	,
CDC73	0.00	0	,
CDKN1A	0.00	0	,
CDKN1B	0.00	0	,
CDKN2B	0.00	0	,
CDKN2C	0.00	0	,
CHD7	0.00	0	,
FAM111A	0.00	0	,
GATA3	0.00	0	,
GCM2	0.00	0	,
GNA11	0.00	0	,
MEN1	0.00	0	,
NEBL	0.00	0	,
PTH	0.00	0	,
PTH1R	0.00	0	,
RET	0.00	0	,
SEMA3E	0.00	0	,
SOX3	0.00	0	,
STX16	0.00	0	,
TBCE	0.00	0	,
TBX1	0.00	0	,
TRPV6	0.00	0	,

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%

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	,

Thyroid disgenesis (38 genes) - VUB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AP2S1	100.00	No comment
CASR	100.00	No comment
CDCA8	100.00	No comment
DUOX1	100.00	No comment
DUOX2	100.00	No comment
DUOXA2	100.00	No comment
DYRK1A	100.00	No comment
ELN	100.00	No comment
FOXE1	60.48	No comment
GAS1	62.99	No comment
GLIS3	100.00	No comment
GNA11	99.51	No comment
GNAS	98.96	No comment
GNAS-AS1	100.00	No comment
IYD	100.00	No comment
JAG1	99.66	No comment
KAT6B	100.00	No comment
KDM6A	100.00	No comment
KMT2D	100.00	No comment
NKX2-1	92.46	No comment
NKX2-5	100.00	No comment
NTN1	95.84	No comment
PAX8	100.00	No comment
SALL1	100.00	No comment
SECISBP2	98.68	No comment
SLC11A2	100.00	No comment
SLC26A4	99.99	No comment
SLC26A7	100.00	No comment
SLC5A5	100.00	No comment
STX16	100.00	No comment
TBX1	77.39	No comment
TG	100.00	No comment
THRA	100.00	No comment
THRB	100.00	No comment
THPO	99.84	No comment
TSHR	100.00	No comment
TUBB1	100.00	No comment
URB1	99.99	No comment

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