NME8 | Belgian Genetic Tests database

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Name:	NME/NM23 family member 8
Symbol:	NME8
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	CILD6 DNAI8 NM23-H8 SPTRX2 Sperm-specific thioredoxin 2 sperm-specific thioredoxin 2
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

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Ciliopathy (120 genes) - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ACVR2B	99.99	0
ADAMTS9	99.94	0
AHI1	99.86	0
ALMS1	99.90	0
ANKS6	100.00	0
ARL13B	99.53	0
ARL3	99.98	0
ARL6	99.90	0
ARMC9	99.77	0
B9D1	99.80	0
B9D2	99.88	0
BBIP1	99.99	0
BBS1	100.00	0
BBS10	99.98	0
BBS12	100.00	0
BBS2	99.90	0
BBS4	99.88	0
BBS5	99.00	0
BBS7	99.42	0
BBS9	99.75	0
C2CD3	99.88	0
CBY1	100.00	0
CC2D2A	99.95	0
CCDC103	99.68	0
CCDC172	99.85	0
CCDC28B	99.99	0
CCDC32	99.97	0
CCDC39	99.74	0
CCDC40	100.00	0
CCDC65	99.80	0
CCDC96	100.00	0
CCNO	100.00	0
CENPF	99.97	0
CEP104	99.99	0
CEP120	99.90	0
CEP164	99.99	0
CEP290	98.10	0
CEP295	99.94	0
CEP41	99.99	0
CEP55	99.92	0
CEP83	98.68	0
CFAP251	99.98	0
CFAP298	99.96	0
CFAP300	99.47	0
CFAP410	100.00	0
CFAP418	100.00	0
CFAP44	99.75	0
CFAP53	99.95	0
CFAP69	99.09	0
CFC1	21.93	0
CILK1	99.69	0
CPLANE1	99.81	0
CRB2	99.95	0
CSPP1	98.31	0
DCDC2	99.96	0
DDX59	99.67	0
DEUP1	99.86	0
DHCR7	99.97	0
DLG5	99.91	0
DNAAF1	99.99	0
DNAAF11	99.80	0
DNAAF2	99.91	0
DNAAF3	99.99	0
DNAAF4	99.78	0
DNAAF5	99.99	0
DNAAF6	98.73	0
DNAH1	99.98	0
DNAH11	99.93	0
DNAH5	99.98	0
DNAH8	99.84	0
DNAI1	99.92	0
DNAI2	99.86	0
DNAJB13	99.91	0
DNAH9	99.79	0
DRC1	99.93	0
DYNC2H1	99.66	0
DYNC2I1	99.99	0
DYNC2I2	99.98	0
DYNC2LI1	99.94	0
DYNLT2B	100.00	0
EVC	99.95	0
EVC2	99.97	0
EXOC3L2	99.88	0
EXOC6B	99.41	0
EXOC8	99.99	0
EXTL3	99.99	0
FAM149B1	99.69	0
FAM166B	99.99	0
FOXF1	99.99	0
FUZ	99.99	0
GAS2L2	100.00	0
GAS8	100.00	0
GLI3	100.00	0
GLIS2	100.00	0
HNF1B	100.00	0
HYDIN	81.28	0
HYLS1	100.00	0
IFT122	99.98	0
IFT140	100.00	0
IFT172	99.98	0
IFT27	100.00	0
IFT43	99.97	0
IFT52	99.82	0
IFT74	99.71	0
IFT80	99.69	0
IFT81	94.64	0
INPP5E	99.85	0
INTS13	98.20	0
INTU	99.92	0
INVS	99.94	0
IQCB1	99.72	0
IQCE	99.77	0
KATNIP	99.13	0
KCTD3	99.75	0
KIAA0586	95.75	0
KIAA0753	100.00	0
KIF14	97.80	0
KIF3B	99.99	0
KIF7	100.00	0
LBR	99.66	0
LCA5	99.89	0
LRRC34	99.52	0
LRRC45	99.98	0
LRRC56	99.98	0
LZTFL1	100.00	0
MAPKBP1	99.98	0
MCIDAS	100.00	0
MKKS	100.00	0
MKS1	99.92	0
MMP21	99.99	0
MRE11	99.93	0
NCAPG2	99.97	0
NEK1	99.83	0
NEK9	99.96	0
NME5	99.81	0
NME8	99.83	0
NPHP1	99.05	0
NPHP3	99.89	0
NPHP4	99.98	0
OCRL	99.89	0
ODAD1	96.04	0
ODAD2	98.19	0
ODAD3	99.96	0
ODAD4	99.85	0
OFD1	99.68	0
PDE6D	99.94	0
PIBF1	99.90	0
PIK3C2A	99.92	0
PKD1	99.98	0
PKD2	99.91	0
PKHD1	99.95	0
PMFBP1	99.89	0
PMM2	99.93	0
POC1A	99.98	0
POC1B	100.00	0
RAB28	99.97	0
RPGR	94.45	0
RPGRIP1L	96.35	0
RSPH1	99.87	0
RSPH3	99.94	0
RSPH4A	99.95	0
RSPH9	99.99	0
SBDS	99.93	0
SCLT1	95.17	0
SCNM1	99.47	0
SDCCAG8	100.00	0
SLC30A7	94.71	0
SPAG1	99.78	0
STK36	99.98	0
SUFU	100.00	0
TBC1D32	99.75	0
TCTN1	99.92	0
TCTN2	99.99	0
TCTN3	99.92	0
TMEM107	100.00	0
TMEM138	100.00	0
TMEM17	99.96	0
TMEM216	99.98	0
TMEM218	99.94	0
TMEM231	88.88	0
TMEM237	99.30	0
TMEM260	99.90	0
TMEM67	99.69	0
TOGARAM1	99.93	0
TOPORS	99.99	0
TRAF3IP1	99.96	0
TRIM32	100.00	0
TTC21B	99.50	0
TTC23	99.87	0
TTC26	99.97	0
TTC6	99.77	0
TTC8	99.67	0
TUBGCP4	99.80	0
TULP1	99.99	0
TULP3	99.91	0
TXNDC15	99.78	0
VHL	100.00	0
VPS13B	99.90	0
WDPCP	99.87	0
WDR19	99.80	0
WDR35	99.92	0
XPNPEP3	99.99	0
ZFYVE19	99.99	0
ZIC3	99.90	0
ZMYND10	99.99	0
ZNF423	98.94	0
ZSWIM6	98.94	0

Congenital structural heart defects - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AATK	99.98	1
ABL1	100.00	1
ACAN	91.51	1
ACTA1	99.99	1
ACTB	100.00	1
ACTC1	98.57	1
ACTG1	100.00	1
ACTN2	99.99	1
ACVR1	99.94	1
ACVR1B	99.99	1
ACVR2A	99.15	1
ACVR2B	99.99	1
ACVRL1	99.88	1
ADAMTS10	99.99	1
ADNP	100.00	1
AKAP12	100.00	1
AKT1	100.00	1
AKT2	99.85	1
ALDH1A2	99.97	1
ALX3	99.74	1
ANKRD1	99.57	1
ANKRD11	99.85	1
AP1B1	99.99	1
APAF1	98.70	1
AR	99.76	1
ARHGAP31	100.00	1
ARID4A	99.90	1
ATP2A2	99.98	1
ATRX	99.44	1
AXIN1	100.00	1
BCOR	99.97	1
BMP10	99.96	1
BMP2	99.79	1
BMP4	100.00	1
BMP6	100.00	1
BMP7	100.00	1
BMPR1A	99.58	1
BMPR2	99.95	1
BRAF	99.78	1
BRIP1	99.39	1
BVES	99.83	1
CASQ2	94.39	1
CAV1	99.97	1
CAV3	100.00	1
CBL	99.95	1
CCDC103	99.68	1
CCDC39	99.74	1
CCDC40	100.00	1
CCDC65	99.80	1
CCN1	99.99	1
CCNO	100.00	1
CD96	99.91	1
CDK13	99.83	1
CDK4	100.00	1
CDX2	100.00	1
CENPF	99.97	1
CFAP53	99.95	1
CFC1	21.93	1
CHAC2	99.68	1
CHD4	99.99	1
CHD7	99.99	1
CHD8	99.96	1
CITED2	100.00	1
COL1A1	99.90	1
COL1A2	99.34	1
COL2A1	99.87	1
COX7B	99.86	1
CREBBP	99.97	1
CRELD1	99.99	1
CRIP2	99.99	1
CRYAB	100.00	1
CSNK1D	99.99	1
CSRP1	99.75	1
CSRP3	100.00	1
CTNNB1	99.95	1
DDX3X	99.01	1
DES	100.00	1
DIAPH3	99.85	1
DICER1	99.96	1
DLGAP5	99.83	1
DLL1	99.99	1
DLL4	100.00	1
DNAAF1	99.99	1
DNAAF11	99.80	1
DNAAF2	99.91	1
DNAAF3	99.99	1
DNAAF4	99.78	1
DNAAF5	99.99	1
DNAH11	99.93	1
DNAH5	99.98	1
DNAI1	99.92	1
DNAI2	99.86	1
DNAJB13	99.91	1
DNAH9	99.79	1
DRC1	99.93	1
DSCAM	99.99	1
DVL1	100.00	1
DYRK1A	99.98	1
E2F1	99.99	1
ECE1	99.92	1
EDNRA	99.97	1
EFEMP2	99.94	1
EFNB1	99.95	1
EFTUD2	99.93	1
EGFR	99.68	1
EGR1	99.99	1
EHMT1	98.38	1
ELN	99.86	1
ENG	100.00	1
EOGT	99.09	1
EP300	99.97	1
EPHB2	99.86	1
EPHB4	99.82	1
ERBB2	99.98	1
ERCC4	99.92	1
ESR2	99.96	1
ETS1	99.99	1
EVC	99.95	1
EVC2	99.97	1
EWSR1	99.94	1
EZH2	99.89	1
F2R	99.98	1
FABP3	99.87	1
FADD	99.97	1
FANCA	100.00	1
FANCB	99.24	1
FANCC	99.98	1
FANCD2	99.86	1
FANCE	99.99	1
FANCF	100.00	1
FANCG	100.00	1
FANCI	99.96	1
FANCL	99.67	1
FBLN1	98.69	1
FBLN7	99.95	1
FBN1	99.85	1
FBN2	99.90	1
FGF10	99.95	1
FGF8	100.00	1
FGFR1	100.00	1
FGFR2	99.99	1
FGFR3	100.00	1
FHL2	100.00	1
FIBP	99.83	1
FLII	100.00	1
FLNA	99.99	1
FLNC	99.99	1
FLT1	99.99	1
FLT4	97.93	1
FN1	99.95	1
FOXC1	100.00	1
FOXC2	100.00	1
FOXH1	100.00	1
FOXK2	99.76	1
FOXL1	100.00	1
FOXL2	99.97	1
FOXO1	100.00	1
FOXP1	99.98	1
FSCN2	100.00	1
G6PC3	99.98	1
GAS8	100.00	1
GATA2	99.99	1
GATA4	99.99	1
GATA5	100.00	1
GATA6	99.90	1
GATAD2B	99.44	1
GDF1	100.00	1
GDF11	99.97	1
GDF5	100.00	1
GDNF	99.99	1
GJA1	100.00	1
GJA5	100.00	1
GJD2	99.99	1
GLB1	100.00	1
GLI2	99.93	1
GLI3	100.00	1
GPC3	99.60	1
GPC5	99.96	1
GPC6	99.98	1
GRK5	99.97	1
GTF2I	47.18	1
GTF2IRD1	99.77	1
HAND1	99.99	1
HAND2	99.97	1
HDAC8	99.74	1
HES4	100.00	1
HEY2	99.75	1
HIF1A	99.87	1
HMGB2	99.99	1
HNF1A	100.00	1
HNF4A	100.00	1
HOXA1	100.00	1
HOXB2	99.99	1
HRAS	100.00	1
HSPB1	99.97	1
HSPB8	100.00	1
HSPG2	99.87	1
HYDIN	81.28	1
ID2	100.00	1
IGF1R	100.00	1
IGFBP4	99.85	1
IKBKB	99.93	1
ILK	100.00	1
INHBA	99.98	1
INHBC	99.99	1
INPP5D	99.98	1
INSR	99.99	1
IRS1	100.00	1
IRX4	99.99	1
ISL1	99.99	1
ITGAV	99.40	1
ITGB1	99.96	1
ITGB3	99.83	1
ITGB4	99.99	1
JAG1	100.00	1
JAM3	100.00	1
JUN	100.00	1
KANSL1	99.85	1
KAT6A	99.93	1
KAT6B	99.79	1
KDM3B	99.98	1
KDM5A	99.90	1
KDM5B	97.15	1
KDM6A	99.74	1
KDR	99.86	1
KIT	99.86	1
KMT2D	99.98	1
KRAS	99.13	1
KREMEN1	99.88	1
LAMA2	99.95	1
LAMA5	99.99	1
LAMC1	99.55	1
LBR	99.66	1
LEFTY1	99.98	1
LEFTY2	100.00	1
LHX3	99.99	1
LMNA	99.96	1
LMX1B	100.00	1
LRP2	99.86	1
LTBP1	99.95	1
LTBP3	99.96	1
LZTR1	99.46	1
MAFG	100.00	1
MAP2K1	99.98	1
MAP2K2	99.99	1
MAPK14	99.95	1
MCTP2	99.99	1
MECOM	99.97	1
MED13L	99.99	1
MEF2C	99.57	1
MEGF8	99.90	1
MESP1	100.00	1
MET	99.97	1
METTL3	99.98	1
MGP	99.95	1
MID1	99.90	1
MITF	99.98	1
MMP2	99.96	1
MMP21	99.99	1
MSX1	100.00	1
MTHFD1	100.00	1
MTHFR	99.97	1
MTRR	99.98	1
MYBPC3	99.98	1
MYC	100.00	1
MYH10	99.91	1
MYH11	99.16	1
MYH6	100.00	1
MYH7	99.99	1
MYH9	99.95	1
MYL2	99.99	1
MYL3	99.99	1
MYL7	99.95	1
MYOCD	99.99	1
MYOM1	99.98	1
MYOZ2	99.99	1
NF1	99.88	1
NFATC1	100.00	1
NFIX	99.99	1
NFKB1	99.80	1
NID2	99.97	1
NIPBL	99.34	1
NKX2-1	100.00	1
NKX2-5	99.75	1
NKX2-6	100.00	1
NME8	99.83	1
NNMT	100.00	1
NODAL	99.98	1
NONO	99.94	1
NOS3	93.73	1
NOTCH1	99.98	1
NOTCH2	99.03	1
NOTCH3	99.99	1
NPHP3	99.89	1
NPHP4	99.98	1
NPPA	100.00	1
NR2F2	100.00	1
NR4A2	99.97	1
NRAS	99.66	1
NRP1	99.99	1
NRP2	99.98	1
NSD1	99.98	1
ODAD1	96.04	1
ODAD2	98.19	1
ODAD3	99.96	1
ODAD4	99.85	1
OTX2	100.00	1
PACS1	99.96	1
PAX3	100.00	1
PCSK5	99.97	1
PDGFC	99.97	1
PDGFRA	99.94	1
PDGFRB	99.99	1
PDHX	100.00	1
PIGA	99.81	1
PIGL	99.98	1
PIGN	99.91	1
PIGT	99.95	1
PITX2	99.98	1
PKD1L1	99.84	1
PLAGL1	99.96	1
PLAT	99.99	1
POU5F1	100.00	1
PPARG	99.96	1
PPARGC1A	99.82	1
PPP3CA	99.84	1
PRKACA	99.95	1
PRKD1	99.96	1
PROX1	99.98	1
PRRX1	99.56	1
PSEN1	100.00	1
PSEN2	99.97	1
PTEN	99.89	1
PTK2	99.97	1
PTP4A3	99.99	1
PTPN11	99.98	1
PUF60	100.00	1
RAB23	99.97	1
RAD21	99.91	1
RAD51C	99.02	1
RAF1	99.97	1
RAI1	99.22	1
RAI2	99.98	1
RARB	99.99	1
RARG	99.98	1
RB1	99.84	1
RBBP7	99.87	1
RBL2	99.44	1
RBM10	99.98	1
RBM8A	99.37	1
RELA	99.99	1
RERE	99.94	1
RET	99.97	1
RGS19	99.88	1
RIT1	99.78	1
RNF20	99.93	1
ROR2	99.99	1
RPGR	94.45	1
RPL11	99.81	1
RPL15	31.77	1
RPL26	30.55	1
RPL35A	97.55	1
RPL5	28.81	1
RPS10	0.00	1
RPS17	100.00	1
RPS19	100.00	1
RPS24	91.48	1
RPS26	8.99	1
RPS28	100.00	1
RPS29	99.96	1
RPS7	88.50	1
RSPH1	99.87	1
RSPH3	99.94	1
RSPH4A	99.95	1
RSPH9	99.99	1
RYR2	99.94	1
SALL1	100.00	1
SALL4	100.00	1
SCN5A	100.00	1
SESN1	99.95	1
SF3B4	99.65	1
SGCA	100.00	1
SH3PXD2B	100.00	1
SHH	100.00	1
SHOC2	99.96	1
HHAT	99.98	1
SLC19A1	99.99	1
SLC25A4	100.00	1
SLC2A10	100.00	1
SLX4	100.00	1
SMAD2	99.92	1
SMAD3	99.99	1
SMAD4	99.97	1
SMAD6	100.00	1
SMARCE1	99.87	1
SMC1A	99.98	1
SMC3	99.91	1
SMG9	99.99	1
SOS1	99.68	1
SOS2	99.39	1
SOX2	100.00	1
SOX4	99.36	1
SP1	99.98	1
SPAG1	99.78	1
SPATC1L	99.99	1
SPECC1L	99.98	1
SRCAP	99.99	1
SRF	99.99	1
STAT3	99.97	1
STRA6	99.95	1
SUZ12	98.58	1
TAB2	99.75	1
TBX1	99.95	1
TBX2	99.97	1
TBX20	99.99	1
TBX3	100.00	1
TBX5	99.98	1
TBX6	99.99	1
TCAP	100.00	1
TCF21	100.00	1
TCF3	100.00	1
TCN2	100.00	1
CRIPTO	99.82	1
TEAD1	99.97	1
TEK	99.98	1
TFAP2A	100.00	1
TFAP2B	99.98	1
TFAP2C	100.00	1
TGFB1	100.00	1
TGFB2	99.87	1
TGFB3	100.00	1
TGFBR1	99.94	1
TGFBR2	99.98	1
TGIF1	100.00	1
THBS1	100.00	1
THBS4	100.00	1
THOC5	99.90	1
THRB	99.82	1
DDR2	97.39	1
TLL1	99.94	1
TNFRSF11A	100.00	1
TNFRSF1A	100.00	1
TNNI3	100.00	1
TNNT2	99.87	1
TNR	99.80	1
TP53	99.98	1
TP73	100.00	1
TPM1	99.92	1
TRPM2	99.99	1
TSR2	99.96	1
TTN	99.15	1
TWIST1	100.00	1
UBE2B	99.94	1
UBE2T	99.89	1
USP44	99.86	1
USP9X	99.84	1
VCAN	99.99	1
VDR	99.86	1
VEGFA	99.99	1
VEGFC	99.96	1
WASHC5	99.98	1
WDR5	100.00	1
WNT11	100.00	1
WT1	99.99	1
YY1	100.00	1
ZEB2	99.97	1
ZFHX3	99.96	1
ZFPM2	100.00	1
ZIC3	99.90	1
ZMYND10	99.99	1

Heterotaxie PCD - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ACTC1	98.57	0
ACVR2B	99.99	0
AK7	99.93	0
ALMS1	99.90	0
ANKS6	100.00	0
BBS1	100.00	0
BBS10	99.98	0
BBS2	99.90	0
BCL9L	99.99	0
BCOR	99.97	0
BRAF	99.78	0
C1orf127	99.98	0
CBL	99.95	0
CCDC103	99.68	0
CCDC39	99.74	0
CCDC40	100.00	0
CCDC65	99.80	0
CCNO	100.00	0
CENPF	99.97	0
CEP164	99.99	0
CEP290	98.10	0
CFAP298	99.96	0
CFAP300	99.47	0
CFAP45	99.97	0
CFAP52	99.92	0
CFAP53	99.95	0
CFAP58	99.96	0
CFC1	21.93	0
CFTR	99.45	0
CHD7	99.99	0
CITED2	100.00	0
CRELD1	99.99	0
DAW1	99.90	0
DGAT2L6	99.97	0
DNAAF1	99.99	0
DNAAF11	99.80	0
DNAAF2	99.91	0
DNAAF3	99.99	0
DNAAF4	99.78	0
DNAAF5	99.99	0
DNAAF6	98.73	0
DNAH1	99.98	0
DNAH11	99.93	0
DNAH12	99.36	0
DNAH14	99.64	0
DNAH17	99.98	0
DNAH5	99.98	0
DNAH8	99.84	0
DNAH9	99.79	0
DNAI1	99.92	0
DNAI2	99.86	0
DNAJB13	99.91	0
DRC1	99.93	0
DYNC1H1	99.99	0
DYNLT2	99.95	0
ELN	99.86	0
EVC	99.95	0
EVC2	99.97	0
FOXF1	99.99	0
FOXH1	100.00	0
FOXJ1	100.00	0
GAS2L2	100.00	0
GAS8	100.00	0
GATA4	99.99	0
GATA6	99.90	0
GDF1	100.00	0
GJA1	100.00	0
GPC3	99.60	0
HAND1	99.99	0
HES7	100.00	0
HYDIN	81.28	0
IFT46	99.58	0
INVS	99.94	0
JAG1	100.00	0
KIF7	100.00	0
LEFTY1	99.98	0
LEFTY2	100.00	0
LMBRD1	99.67	0
CIROP	91.91	0
LMNA	99.96	0
LRRC56	99.98	0
LZTFL1	100.00	0
MAP2K1	99.98	0
MAP2K2	99.99	0
MCIDAS	100.00	0
MED13L	99.99	0
MEGF8	99.90	0
MEIS2	99.97	0
MKS1	99.92	0
MMP21	99.99	0
MNS1	99.86	0
MRE11	99.93	0
MYH6	100.00	0
NAT10	99.97	0
NEK10	96.92	0
NEK9	99.99	0
NKX2-5	99.75	0
NKX2-6	100.00	0
NME5	99.81	0
NME8	99.83	0
NODAL	99.98	0
NOTCH1	99.98	0
NOTCH2	99.03	0
NPHP3	99.89	0
NR2F2	100.00	0
NSD1	99.98	0
ODAD1	96.04	0
ODAD2	98.19	0
ODAD3	99.96	0
ODAD4	99.85	0
OFD1	99.68	0
PITRM1	99.89	0
PKD1L1	99.84	0
PKD2	99.91	0
PQBP1	99.99	0
PRRX1	99.56	0
PTPN11	99.98	0
RAF1	99.97	0
RIT1	99.78	0
RPGR	94.45	0
RSPH1	99.87	0
RSPH3	99.94	0
RSPH4A	99.95	0
RSPH9	99.99	0
SERPINE2	99.97	0
SHOC2	99.96	0
SHROOM3	99.99	0
SMAD2	99.92	0
SMAD6	100.00	0
SOS1	99.68	0
SPAG1	99.78	0
SPEF2	99.93	0
STK36	99.98	0
TBX1	99.95	0
TBX5	99.98	0
TCTN2	99.99	0
TP73	100.00	0
TTC12	99.97	0
TTC8	99.67	0
UBR1	99.93	0
WDR35	99.92	0
WDR47	95.08	0
ZFPM2	100.00	0
ZIC3	99.90	0
ZMPSTE24	98.70	0
ZMYND10	99.99	0
ZNF423	98.94	0

Primary Ciliary Dyskinesia (61 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ODAD2	100.00	0	NM_018076.5
CCDC103	100.00	0	NM_213607.3
ODAD1	100.00	0	NM_144577.4
ODAD3	100.00	0	NM_145045.5
CCDC39	100.00	0	NM_181426.2
CCDC40	100.00	0	NM_017950.4
CCDC65	100.00	0	NM_033124.5
CCNO	100.00	0	NM_021147.5
CFAP251	100.00	0	NM_144668.6
CFAP298	100.00	0	NM_021254.4
CFAP300	100.00	0	NM_032930.3
CFAP45	100.00	0	NM_012337.3
CFAP53	100.00	0	NM_145020.5
CFAP57	100.00	0	NM_152498.3
CFAP74	100.00	0	NM_001304360.2
DNAAF1	100.00	0	NM_178452.6
DNAAF2	100.00	0	NM_018139.2
DNAAF3	100.00	0	NM_001256714.1
DNAAF4	100.00	0	NM_130810.4
DNAAF5	100.00	0	NM_017802.4
DNAAF6	100.00	0	NM_001169154.2
DNAH11	100.00	0	NM_001277115.2
DNAH17	100.00	0	NM_173628.4
DNAH2	100.00	0	NM_020877.5
DNAH5	100.00	0	NM_001369.3
DNAH6	100.00	0	NM_001370.2
DNAH8	100.00	0	NM_001206927.2
DNAH9	100.00	0	NM_031427.4
DNAI1	100.00	0	NM_012144.4
DNAI2	100.00	0	NM_023036.5
DNAJB13	100.00	0	NM_153614.4
DRC1	100.00	0	NM_145038.5
ENKUR	100.00	0	NM_145010.4
FOXJ1	100.00	0	NM_001454.4
GAS2L2	100.00	0	NM_139285.4
GAS8	100.00	0	NM_001481.3
HYDIN	100.00	0	NM_001270974.2
LRRC56	100.00	0	NM_198075.4
DNAAF11	100.00	0	NM_012472.6
MCIDAS	100.00	0	NM_001190787.3
MNS1	100.00	0	NM_018365.4
NEK10	100.00	0	NM_199347.4
NME5	100.00	0	NM_003551.3
NME8	100.00	0	NM_016616.5
OFD1	100.00	0	NM_003611.3
RPGR	100.00	0	NM_000328.3
RSPH1	100.00	0	NM_080860.4
RSPH3	100.00	0	NM_031924.8
RSPH4A	100.00	0	NM_001010892.3
RSPH9	100.00	0	NM_152732.5
SPAG1	100.00	0	NM_172218.3
SPEF2	100.00	0	NM_024867.4
STK36	100.00	0	NM_015690.5
TEKT1	100.00	0	NM_053285.2
TP73	100.00	0	NM_005427.4
TTC12	100.00	0	NM_017868.4
ODAD4	100.00	0	NM_031421.5
ZMYND10	100.00	0	NM_015896.4
CFAP221	100.00	-2
DNAL1	100.00	-2	NM_031427.4
DAW1	100.00	-2	NM_178821.3

Respiratory Disorders panel (137 genes) - Ugent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABCA3	99.96	1
ABCC8	99.98	1
ACVRL1	99.88	1
AP3B1	99.89	1
AQP1	99.99	1
ARHGEF1	99.97	1
ASAH1	99.90	1
ASCL1	99.82	1
ATP13A3	99.84	1
ATP6AP1	100.00	1
BDNF	100.00	1
BLOC1S3	100.00	1
BLOC1S6	99.98	1
BMP10	99.96	1
BMPR1B	99.61	1
BMPR2	99.95	1
CARD11	99.97	1
CAV1	99.97	1
CCDC39	99.74	1
CCDC40	100.00	1
CD19	99.98	1
CD81	99.97	1
CIITA	99.99	1
CLEC1A	99.97	1
CLEC7A	99.98	1
COPA	99.61	1
CR2	99.97	1
CSF2RA	93.86	1
CSF2RB	100.00	1
CTLA4	99.99	1
CTNNBL1	100.00	1
DKC1	99.59	1
DNAAF1	99.99	1
DNAAF2	99.91	1
DNAH11	99.93	1
DNAH5	99.98	1
DNAI1	99.92	1
DNAI2	99.86	1
DNAH9	99.79	1
DOCK8	99.86	1
DTNBP1	99.89	1
EFEMP2	99.94	1
EIF2AK4	99.97	1
ELMOD2	99.80	1
ELN	99.86	1
ENG	100.00	1
ERBIN	99.69	1
FAM111B	99.98	1
FARSA	100.00	1
FARSB	99.64	1
FBLN5	100.00	1
FLNA	99.99	1
FNIP1	99.87	1
FOXF1	99.99	1
FOXP3	99.93	1
GARS1	99.93	1
GATA2	99.99	1
GBA1	96.92	1
GDF2	100.00	1
HPS1	100.00	1
HPS3	99.91	1
HPS4	99.98	1
HPS5	99.91	1
HPS6	100.00	1
IKZF1	99.92	1
IL6R	92.46	1
IL6ST	99.88	1
IRF2BP2	100.00	1
ITCH	95.57	1
ITGA3	99.86	1
KCNA5	100.00	1
KCNK3	100.00	1
KDR	99.86	1
LRBA	99.76	1
LTBP4	99.99	1
MARS1	99.97	1
MOGS	100.00	1
MS4A1	99.60	1
MUC5B	99.94	1
NFKB1	99.80	1
NFKB2	99.98	1
NKX2-1	100.00	1
NME8	99.83	1
NOD2	99.98	1
NOTCH3	99.99	1
NSMCE3	100.00	1
OAS1	99.96	1
PARN	99.75	1
PGM3	99.94	1
PIK3CD	99.99	1
PIK3CG	99.72	1
PIK3R1	99.86	1
POU2AF1	99.43	1
PTEN	99.89	1
RAC2	99.99	1
RFX5	99.88	1
RFXANK	100.00	1
RFXAP	99.98	1
RGPD4	71.96	1
RSPH4A	99.95	1
RSPH9	99.99	1
RTEL1	100.00	1
SCNN1A	100.00	1
SCNN1B	99.38	1
SCNN1G	99.94	1
SEC61A1	99.99	1
SERPINA1	100.00	1
SFTPA1	99.99	1
SFTPA2	99.81	1
SFTPB	99.99	1
SFTPC	99.99	1
SFTPD	99.62	1
SH3KBP1	99.95	1
SLC34A2	99.99	1
SLC7A7	99.99	1
SMAD4	99.97	1
SMAD9	99.99	1
SMPD1	100.00	1
SOX17	100.00	1
SPINK5	99.91	1
STAT3	99.97	1
STAT5B	99.50	1
STING1	99.87	1
TBX4	99.96	1
TERC	98.59	1
TERT	100.00	1
TGFBR1	99.94	1
TGFBR2	99.98	1
TINF2	100.00	1
TNFRSF13B	99.43	1
TNFRSF13C	99.99	1
TNFSF12	100.00	1
TNFSF13	100.00	1
TRNT1	99.97	1
TSC1	99.99	1
TSC2	99.98	1
ZNF341	100.00	1