Belgian Genetic Tests database- Diseases
- Primary ciliary dyskinesia
Primary ciliary dyskinesia
| Name: |
Primary ciliary dyskinesia
|
| Description: |
A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).
|
| ORPHAcode: |
244
|
| Synonyms: |
PCD
|
| XREF(s): | |
| Analyte(s): |
|
| Created: |
13 May 2019 - 01:02
|
| Changed: |
22 Jun 2023 - 16:14
|
- CCDC103
- CCDC39
- CCDC40
- CCDC65
- CCNO
- CFAP221
- CFAP298
- CFAP300
- CFAP74
- DNAAF1
- DNAAF11
- DNAAF2
- DNAAF3
- DNAAF4
- DNAAF5
- DNAAF6
- DNAH1
- DNAH11
- DNAH5
- DNAH9
- DNAI1
- DNAI2
- DNAJB13
- DNAL1
- DRC1
- FOXJ1
- GAS2L2
- GAS8
- HYDIN
- LRRC56
- MCIDAS
- NEK10
- NME5
- NME8
- ODAD1
- ODAD2
- ODAD3
- ODAD4
- OFD1
- RPGR
- RSPH1
- RSPH3
- RSPH4A
- RSPH9
- SPAG1
- SPEF2
- STK36
- TTC12
- ZMYND10
-
Ciliopathy (120 genes) - UGent
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 -
Primary Ciliary Dyskinesia (61 genes) - KUL
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