Dentro de los servicios qGenEx, los paneles de exoma dirigido permiten restringir el estudio a un grupo de genes concreto según especialidad.
qGenEx PC analiza 124 genes asociados a ciliopatías usando secuenciación de exoma completo mediante NGS.
Utiliza el buscador para encontrar el grupo de genes relacionados con la patología que te interesa incluidos en el panel:
Gene | Median coverage | Associated Phenotype | OMIM ID |
---|---|---|---|
AHI1 | 151.9 | Joubert syndrome-3, | 608629 |
ALMS1 | 197.7 | Alstrom syndrome, | 203800 |
ANKS6 | 99.5 | Nephronophthisis 16 | 615382 |
ARL13B | 100.4 | Joubert syndrome 8 | 612291 |
ARL6 | 99 | Bardet-Biedl syndrome 3 | 600151 |
ARL6 | 99 | ?Retinitis pigmentosa 55 | 613575 |
ARL6 | 99 | {Bardet-Biedl syndrome 1 modifier of}, | 209900 |
ARMC4 | 135.5 | Ciliary dyskinesia, primary, 23 | 615451 |
ATXN10 | 166.4 | Spinocerebellar ataxia 10 | 603516 |
B9D1 | 119.3 | ?Meckel syndrome 9 | 614209 |
B9D2 | 123.3 | Meckel syndrome 10 | 614175 |
BBIP1 | 150.1 | ?Bardet-Biedl syndrome 18 | 615995 |
BBS1 | 162.3 | Bardet-Biedl syndrome 1 | 209900 |
BBS10 | 179.1 | Bardet-Biedl syndrome 10 | 615987 |
BBS12 | 225 | Bardet-Biedl syndrome 12 | 615989 |
BBS2 | 210.1 | Bardet-Biedl syndrome 2 | 615981 |
BBS2 | 210.1 | Retinitis pigmentosa 74 | 616562 |
BBS4 | 163.9 | Bardet-Biedl syndrome 4 | 615982 |
BBS5 | 122.1 | Bardet-Biedl syndrome 5 | 615983 |
BBS7 | 135.5 | Bardet-Biedl syndrome 7 | 615984 |
BBS9 | 124.1 | Bardet-Biedl syndrome 9 | 615986 |
C21orf59 | 160.1 | Ciliary dyskinesia, primary, 26 | 615500 |
C2CD3 | 163.2 | ?Orofaciodigital syndrome XIV, | 615948 |
C5orf42 | 136.5 | Joubert syndrome 17 | 614615 |
C5orf42 | 136.5 | Orofaciodigital syndrome VI, | 277170 |
CC2D2A | 137.5 | COACH syndrome, | 216360 |
CC2D2A | 137.5 | Joubert syndrome 9 | 612285 |
CC2D2A | 137.5 | Meckel syndrome 6 | 612284 |
CCDC103 | 114.9 | Ciliary dyskinesia, primary, 17 | 614679 |
CCDC114 | 135.4 | Ciliary dyskinesia, primary, 20 | 615067 |
CCDC151 | 132 | Ciliary dyskinesia, primary, 30 | 616037 |
CCDC28B | 90.5 | {Bardet-Biedl syndrome 1 modifier of}, | 209900 |
CCDC39 | 90.9 | Ciliary dyskinesia, primary, 14 | 613807 |
CCDC40 | 130.4 | Ciliary dyskinesia, primary, 15 | 613808 |
CCDC41 | 113.4 | Nephronophthisis 18 | 615862 |
CCDC65 | 109.3 | Ciliary dyskinesia, primary, 27 | 615504 |
CCNO | 99 | Ciliary dyskinesia, primary, 29 | 615872 |
CENPF | 151.1 | Stromme syndrome, | 243605 |
CEP104 | 141.5 | Joubert syndrome 25 | 616781 |
CEP120 | 145.3 | Short-rib thoracic dysplasia 13 with or without polydactyly, | 616300 |
CEP164 | 98.4 | Nephronophthisis 15 | 614845 |
CEP290 | 77.4 | Joubert syndrome 5 | 610188 |
CEP290 | 77.4 | Leber congenital amaurosis 10 | 611755 |
CEP290 | 77.4 | Meckel syndrome 4 | 611134 |
CEP290 | 77.4 | Senior-Loken syndrome 6 | 610189 |
CEP290 | 77.4 | ?Bardet-Biedl syndrome 14 | 615991 |
CEP41 | 96.7 | Joubert syndrome 15 | 614464 |
CSPP1 | 119.4 | Joubert syndrome 21 | 615636 |
DCDC2 | 160 | Nephronophthisis 19 | 616217 |
DCDC2 | 160 | ?Deafness, autosomal recessive 66 | 610212 |
DDX59 | 184.5 | Orofaciodigital syndrome V, | 174300 |
DNAAF1 | 128.5 | Ciliary dyskinesia, primary, 13 | 613193 |
DNAAF2 | 104.1 | Ciliary dyskinesia, primary, 10 | 612518 |
DNAAF3 | 97.1 | Ciliary dyskinesia, primary, 2 | 606763 |
DNAH11 | 150.4 | Ciliary dyskinesia, primary, 7 with or without situs inversus, | 611884 |
DNAH5 | 144.4 | Ciliary dyskinesia, primary, 3 with or without situs inversus, | 608644 |
DNAI1 | 130.3 | Ciliary dyskinesia, primary, 1 with or without situs inversus, | 244400 |
DNAI2 | 163.5 | Ciliary dyskinesia, primary, 9 with or without situs inversus, | 612444 |
DNAJB13 | 146.1 | No OMIM phenotype | 612444 |
DNAL1 | 115.8 | Ciliary dyskinesia, primary, 16 | 614017 |
DNHD1 | 184.4 | No OMIM phenotype | 614017 |
DRC1 | 105.8 | Ciliary dyskinesia, primary, 21 | 615294 |
DYNC2H1 | 102.9 | Short-rib thoracic dysplasia 3 with or without polydactyly, | 613091 |
DYX1C1 | 88.3 | Ciliary dyskinesia, primary, 25 | 615482 |
DYX1C1 | 88.3 | {Dyslexia, susceptibility to, 1}, | 127700 |
EVC | 117.3 | Ellis-van Creveld syndrome, | 225500 |
EVC | 117.3 | Weyers acrodental dysostosis, | 193530 |
EVC2 | 125.8 | Ellis-van Creveld syndrome, | 225500 |
EVC2 | 125.8 | Weyers acrofacial dysostosis, | 193530 |
EXOC8 | 169.7 | No OMIM phenotype | 193530 |
EXOC8 | 169.7 | Joubert syndrome (Dixon-Salazar -2012 Sci Transl Med 4 138ra78) | 193530 |
GAS8 | 166.7 | Ciliary dyskinesia, primary, 33 | 616726 |
GLIS2 | 106.8 | Nephronophthisis 7 | 611498 |
HEATR2 | 119.8 | Ciliary dyskinesia, primary, 18 | 614874 |
HYDIN | 151.7 | Ciliary dyskinesia, primary, 5 | 608647 |
HYLS1 | 180.7 | Hydrolethalus syndrome, | 236680 |
IFT122 | 164.4 | Cranioectodermal dysplasia 1 | 218330 |
IFT140 | 124.5 | Short-rib thoracic dysplasia 9 with or without polydactyly, | 266920 |
IFT172 | 128.2 | Retinitis pigmentosa 71 | 616394 |
IFT172 | 128.2 | Short-rib thoracic dysplasia 10 with or without polydactyly, | 615630 |
IFT27 | 131.5 | ?Bardet-Biedl syndrome 19 | 615996 |
IFT43 | 130.6 | Cranioectodermal dysplasia 3 | 614099 |
IFT80 | 66.9 | Short-rib thoracic dysplasia 2 with or without polydactyly, | 611263 |
INPP5E | 105.1 | Joubert syndrome 1 | 213300 |
INPP5E | 105.1 | Mental retardation, truncal obesity, retinal dystrophy, and micropenis, | 610156 |
INVS | 176.4 | Nephronophthisis 2 infantile, | 602088 |
IQCB1 | 105.9 | Senior-Loken syndrome 5 | 609254 |
KIAA0586 | 126.6 | Joubert syndrome 23 | 616490 |
KIAA0586 | 126.6 | Short-rib thoracic dysplasia 14 with polydactyly, | 616546 |
KIF14 | 129.2 | ?Meckel syndrome 12 | 616258 |
KIF7 | 93.4 | Acrocallosal syndrome, | 200990 |
KIF7 | 93.4 | Joubert syndrome 12 | 200990 |
KIF7 | 93.4 | ?Al-Gazali-Bakalinova syndrome, | 607131 |
KIF7 | 93.4 | ?Hydrolethalus syndrome 2 | 614120 |
LCA5 | 141.6 | Leber congenital amaurosis 5 | 604537 |
LRRC6 | 180.2 | Ciliary dyskinesia, primary, 19 | 614935 |
LZTFL1 | 136.5 | Bardet-Biedl syndrome 17 | 615994 |
MKKS | 239.6 | Bardet-Biedl syndrome 6 | 605231 |
MKKS | 239.6 | McKusick-Kaufman syndrome, | 236700 |
MKS1 | 113.5 | Bardet-Biedl syndrome 13 | 615990 |
MKS1 | 113.5 | Meckel syndrome 1 | 249000 |
NEK1 | 124 | Short-rib thoracic dysplasia 6 with or without polydactyly, | 263520 |
NEK8 | 187.6 | ?Nephronophthisis 9 | 613824 |
NEK8 | 187.6 | ?Renal-hepatic-pancreatic dysplasia 2 | 615415 |
NME8 | 118.2 | Ciliary dyskinesia, primary, 6 | 610852 |
NPHP1 | 141 | Joubert syndrome 4 | 609583 |
NPHP1 | 141 | Nephronophthisis 1,00 juvenile, | 256100 |
NPHP1 | 141 | Senior-Loken syndrome-1, | 266900 |
NPHP3 | 128.7 | Meckel syndrome 7 | 267010 |
NPHP3 | 128.7 | Nephronophthisis 3,00 | 604387 |
NPHP3 | 128.7 | Renal-hepatic-pancreatic dysplasia 1 | 208540 |
NPHP4 | 148 | Nephronophthisis 4 | 606966 |
NPHP4 | 148 | Senior-Loken syndrome 4 | 606996 |
OCRL | 152.2 | Dent disease 2 | 300555 |
OCRL | 152.2 | Lowe syndrome, | 309000 |
OFD1 | 56.1 | Joubert syndrome 10 | 300804 |
OFD1 | 56.1 | Orofaciodigital syndrome I, | 311200 |
OFD1 | 56.1 | Simpson-Golabi-Behmel syndrome, type 2 | 300209 |
OFD1 | 56.1 | ?Retinitis pigmentosa 23 | 300424 |
PDE6D | 118.9 | ?Joubert syndrome 22 | 615665 |
PKD1 | 28.2 | Polycystic kidney disease, adult type I, | 173900 |
PKD2 | 119.8 | Polycystic kidney disease 2 | 613095 |
PKHD1 | 173.7 | Polycystic kidney and hepatic disease, | 263200 |
POC1A | 150.5 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, | 614813 |
RPGRIP1L | 153.6 | COACH syndrome, | 216360 |
RPGRIP1L | 153.6 | Joubert syndrome 7 | 611560 |
RPGRIP1L | 153.6 | Meckel syndrome 5 | 611561 |
RSPH1 | 181 | Ciliary dyskinesia, primary, 24 | 615481 |
RSPH3 | 141.8 | Ciliary dyskinesia, primary, 32 | 616481 |
RSPH4A | 157.3 | Ciliary dyskinesia, primary, 11 | 612649 |
RSPH9 | 150.8 | Ciliary dyskinesia, primary, 12 | 612650 |
SCLT1 | 76.2 | No OMIM phenotype | 612650 |
SCLT1 | 76.2 | Oro-facio-digital syndrome type IX (Adly -2014 Hum Mutat 35,36) | 612650 |
SDCCAG8 | 136.3 | Bardet-Biedl syndrome 16 | 615993 |
SDCCAG8 | 136.3 | Senior-Loken syndrome 7 | 613615 |
SPAG1 | 93.2 | Ciliary dyskinesia, primary, 28 | 615505 |
SPATA7 | 136.3 | Leber congenital amaurosis 3 | 604232 |
SPATA7 | 136.3 | Retinitis pigmentosa, juvenile, autosomal recessive, | 604232 |
TBC1D32 | 87.1 | No OMIM phenotype | 604232 |
TBC1D32 | 87.1 | Oro-facio-digital syndrome type IX (Adly -2014 Hum Mutat 35 36) | 604232 |
TCTN1 | 117.4 | Joubert syndrome 13 | 614173 |
TCTN2 | 163.8 | Joubert syndrome 24 | 616654 |
TCTN2 | 163.8 | ?Meckel syndrome 8 | 613885 |
TCTN3 | 135.8 | Joubert syndrome 18 | 614815 |
TCTN3 | 135.8 | Orofaciodigital syndrome IV, | 258860 |
TMEM138 | 133.5 | Joubert syndrome 16 | 614465 |
TMEM216 | 159.2 | Joubert syndrome 2 | 608091 |
TMEM216 | 159.2 | Meckel syndrome 2 | 603194 |
TMEM231 | 103.4 | Joubert syndrome 20 | 614970 |
TMEM231 | 103.4 | Meckel syndrome 11 | 615397 |
TMEM237 | 115.6 | Joubert syndrome 14 | 614424 |
TMEM67 | 78.9 | COACH syndrome, | 216360 |
TMEM67 | 78.9 | Joubert syndrome 6 | 610688 |
TMEM67 | 78.9 | Meckel syndrome 3 | 607361 |
TMEM67 | 78.9 | Nephronophthisis 11,00 | 613550 |
TMEM67 | 78.9 | {Bardet-Biedl syndrome 14 modifier of}, | 615991 |
TRIM32 | 152.9 | Muscular dystrophy, limb-girdle, type 2H, | 254110 |
TRIM32 | 152.9 | ?Bardet-Biedl syndrome 11 | 615988 |
TTBK2 | 169.4 | Spinocerebellar ataxia 11 | 604432 |
TTC21B | 111.6 | Nephronophthisis 12 | 613820 |
TTC21B | 111.6 | Short-rib thoracic dysplasia 4 with or without polydactyly, | 613819 |
TTC25 | 107.8 | Ciliary dyskinesia, primary, 35 | 617092 |
TTC8 | 109.1 | Bardet-Biedl syndrome 8 | 615985 |
TTC8 | 109.1 | ?Retinitis pigmentosa 51 | 613464 |
TULP1 | 108.1 | Leber congenital amaurosis 15 | 613843 |
TULP1 | 108.1 | Retinitis pigmentosa 14 | 600132 |
VHL | 120.5 | Erythrocytosis, familial, 2 | 263400 |
VHL | 120.5 | Hemangioblastoma, cerebellar, somatic | 263400 |
VHL | 120.5 | Pheochromocytoma, | 171300 |
VHL | 120.5 | Renal cell carcinoma, somatic, | 144700 |
VHL | 120.5 | von Hippel-Lindau syndrome, | 193300 |
WDPCP | 121.7 | ?Bardet-Biedl syndrome 15 | 615992 |
WDPCP | 121.7 | ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, | 217085 |
WDR19 | 153.5 | Nephronophthisis 13 | 614377 |
WDR19 | 153.5 | Senior-Loken syndrome 8 | 616307 |
WDR19 | 153.5 | ?Cranioectodermal dysplasia 4 | 614378 |
WDR19 | 153.5 | ?Short-rib thoracic dysplasia 5 with or without polydactyly, | 614376 |
WDR34 | 112.3 | Short-rib thoracic dysplasia 11 with or without polydactyly, | 615633 |
WDR35 | 167.2 | Cranioectodermal dysplasia 2 | 613610 |
WDR35 | 167.2 | Short-rib thoracic dysplasia 7 with or without polydactyly, | 614091 |
WDR60 | 120.8 | Short-rib thoracic dysplasia 8 with or without polydactyly, | 615503 |
XPNPEP3 | 148.8 | Nephronophthisis-like nephropathy 1 | 613159 |
ZMYND10 | 155.6 | Ciliary dyskinesia, primary, 22 | 615444 |
ZNF423 | 279.5 | Joubert syndrome 19 | 614844 |
ZNF423 | 279.5 | Nephronophthisis 14 | 614844 |