Dentro de los servicios qGenEx, los paneles de exoma dirigido permiten restringir el estudio a un grupo de genes concreto según especialidad.
qGenEx DI, analiza 1312 genes asociados a discapacidad intelectual 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 |
---|
AAAS |
AARS1 |
AASS |
ABAT |
ABCA2 |
ABCC9 |
ABCD1 |
ABCD4 |
ABHD16A |
ABHD5 |
ACAD9 |
ACADM |
ACADS |
ACER3 |
ACO2 |
ACOX1 |
ACSL4 |
ACTB |
ACTG1 |
ACTL6A |
ACTL6B |
ACY1 |
ADAM22 |
ADAR |
ADARB1 |
ADAT3 |
ADD1 |
ADD3 |
ADGRG1 |
ADK |
ADNP |
ADSL |
AFF2 |
AFF3 |
AFF4 |
AGA |
AHCY |
AHDC1 |
AHI1 |
AIFM1 |
AIMP1 |
AKT3 |
ALDH18A1 |
ALDH3A2 |
ALDH4A1 |
ALDH5A1 |
ALDH7A1 |
ALG1 |
ALG11 |
ALG12 |
ALG13 |
ALG3 |
ALG6 |
ALG8 |
ALG9 |
ALKBH8 |
ALMS1 |
AMER1 |
AMPD2 |
AMT |
ANK2 |
ANK3 |
ANKRD11 |
ANKRD17 |
AP1G1 |
AP1S1 |
AP1S2 |
AP2M1 |
AP3B1 |
AP3B2 |
AP4B1 |
AP4E1 |
AP4M1 |
AP4S1 |
APC2 |
ARCN1 |
ARF1 |
ARFGEF1 |
ARFGEF2 |
ARG1 |
ARHGEF9 |
ARID1A |
ARID1B |
ARID2 |
ARL13B |
ARL6 |
ARMC9 |
ARSA |
ARSB |
ARSL |
ARV1 |
ARX |
ASAH1 |
ASH1L |
ASL |
ASNS |
ASPA |
ASPM |
ASS1 |
ASXL1 |
ASXL2 |
ASXL3 |
ATAD1 |
ATAD3A |
ATG7 |
ATIC |
ATM |
ATN1 |
ATP13A2 |
ATP1A1 |
ATP1A2 |
ATP1A3 |
ATP2B1 |
ATP6AP2 |
ATP6V0A1 |
ATP6V0A2 |
ATP6V1A |
ATP6V1B2 |
ATP7A |
ATP8A2 |
ATP9A |
ATR |
ATRX |
AUH |
AUTS2 |
B3GALNT2 |
B3GLCT |
B4GALNT1 |
B4GALT7 |
B9D2 |
BBS1 |
BBS10 |
BBS12 |
BBS2 |
BBS4 |
BBS5 |
BBS7 |
BBS9 |
BCAP31 |
BCAS3 |
BCKDHA |
BCKDHB |
BCKDK |
BCL11A |
BCL11B |
BCOR |
BCS1L |
BICRA |
BLM |
BLOC1S1 |
BMP4 |
BOLA3 |
BPTF |
BRAF |
BRAT1 |
BRD4 |
BRF1 |
BRPF1 |
BRSK2 |
BRWD3 |
BSCL2 |
BTD |
BUB1B |
C12orf4 |
C12orf57 |
C12orf65 |
C2CD3 |
CA2 |
CA8 |
CACNA1A |
CACNA1B |
CACNA1C |
CACNA1D |
CACNA1E |
CACNA1G |
CACNA1I |
CACNA2D1 |
CAD |
CAMK2A |
CAMK2B |
CAMK4 |
CAMTA1 |
CAPN15 |
CARS1 |
CASK |
CBL |
CBS |
CC2D1A |
CC2D2A |
CCBE1 |
CCDC22 |
CCDC32 |
CCDC47 |
CCDC88C |
CCND2 |
CDC42 |
CDC6 |
CDH11 |
CDH2 |
CDK10 |
CDK13 |
CDK19 |
CDK5RAP2 |
CDK8 |
CDKL5 |
CDON |
CELF2 |
CENPF |
CENPJ |
CEP104 |
CEP120 |
CEP135 |
CEP152 |
CEP290 |
CEP41 |
CEP55 |
CEP57 |
CEP83 |
CEP85L |
CERT1 |
CHAMP1 |
CHD2 |
CHD3 |
CHD4 |
CHD5 |
CHD7 |
CHD8 |
CHKA |
CHKB |
CHMP1A |
CIC |
CIT |
CKAP2L |
CLCN3 |
CLCN4 |
CLN3 |
CLN5 |
CLN6 |
CLN8 |
CLP1 |
CLPB |
CLTC |
CNKSR2 |
CNNM2 |
CNOT1 |
CNOT2 |
CNOT3 |
CNTNAP1 |
CNTNAP2 |
COA8 |
COASY |
COG1 |
COG4 |
COG5 |
COG6 |
COG7 |
COG8 |
COL4A1 |
COL4A2 |
COLEC11 |
COPB2 |
COQ4 |
COQ8A |
COX10 |
COX15 |
CPE |
CPLANE1 |
CPS1 |
CRADD |
CRB2 |
CREBBP |
CRPPA |
CSDE1 |
CSNK1G1 |
CSNK2A1 |
CSNK2B |
CSPP1 |
CSTB |
CTBP1 |
CTCF |
CTDP1 |
CTNNA2 |
CTNNB1 |
CTNND1 |
CTSA |
CTSD |
CTU2 |
CUL3 |
CUL4B |
CUX1 |
CUX2 |
CWC27 |
CWF19L1 |
CXorf56 |
CYB5R3 |
CYC1 |
CYFIP2 |
D2HGDH |
DAG1 |
DARS1 |
DARS2 |
DBT |
DCAF17 |
DCHS1 |
DCPS |
DCX |
DDB1 |
DDC |
DDHD2 |
DDX11 |
DDX3X |
DDX59 |
DDX6 |
DEAF1 |
DEGS1 |
DEPDC5 |
DHCR24 |
DHCR7 |
DHDDS |
DHFR |
DHPS |
DHTKD1 |
DHX30 |
DHX37 |
DIAPH1 |
DIS3L2 |
DKC1 |
DLD |
DLG3 |
DLG4 |
DLL1 |
DMD |
DMXL2 |
DNAJC12 |
DNAJC19 |
DNM1 |
DNM1L |
DNMT3A |
DNMT3B |
DOCK3 |
DOCK6 |
DOCK7 |
DOLK |
DPAGT1 |
DPF2 |
DPH1 |
DPM1 |
DPM2 |
DPP6 |
DPYD |
DPYS |
DPYSL5 |
DTYMK |
DYM |
DYNC1H1 |
DYRK1A |
EARS2 |
EBF3 |
EBP |
EDEM3 |
EED |
EEF1A2 |
EFTUD2 |
EHMT1 |
EIF2AK2 |
EIF2AK3 |
EIF2S3 |
EIF3F |
EIF4A3 |
EIF5A |
ELAC2 |
ELOVL4 |
ELP2 |
EMC1 |
EMC10 |
EML1 |
EMX2 |
EP300 |
EPG5 |
ERBB4 |
ERCC1 |
ERCC2 |
ERCC3 |
ERCC5 |
ERCC6 |
ERCC6L2 |
ERCC8 |
ERLIN2 |
ESCO2 |
ETFA |
ETFB |
ETFDH |
ETHE1 |
EXOSC3 |
EXT2 |
EXTL3 |
EZH2 |
FAM111A |
FAM126A |
FAM20C |
FAM50A |
FAR1 |
FARS2 |
FARSA |
FAT4 |
FBRSL1 |
FBXL3 |
FBXL4 |
FBXO11 |
FBXO28 |
FBXO31 |
FBXW11 |
FBXW7 |
FGD1 |
FGF12 |
FH |
FIG4 |
FKRP |
FKTN |
FLNA |
FLVCR2 |
FMN2 |
FMR1 |
FOLR1 |
FOXG1 |
FOXP1 |
FOXP2 |
FOXRED1 |
FRMPD4 |
FTCD |
FTSJ1 |
FUCA1 |
FUT8 |
GABBR2 |
GABRA1 |
GABRA2 |
GABRA5 |
GABRB2 |
GABRB3 |
GABRD |
GABRG2 |
GAD1 |
GALC |
GALE |
GALNT2 |
GALT |
GAMT |
GATAD2B |
GATM |
GCDH |
GCH1 |
GDI1 |
GEMIN5 |
GFAP |
GFER |
GFM1 |
GJC2 |
GK |
GLB1 |
GLDC |
GLI2 |
GLI3 |
GLIS3 |
GLRA2 |
GLUL |
GLYCTK |
GM2A |
GMPPA |
GMPPB |
GNAI1 |
GNAO1 |
GNAS |
GNB1 |
GNB2 |
GNB5 |
GNPAT |
GNPTAB |
GNPTG |
GNS |
GPAA1 |
GPC3 |
GPC4 |
GPT2 |
GRIA2 |
GRIA3 |
GRIA4 |
GRID2 |
GRIK2 |
GRIN1 |
GRIN2A |
GRIN2B |
GRIN2D |
GRM1 |
GTF2E2 |
GTF2H5 |
GTPBP2 |
GTPBP3 |
GUSB |
H1-4 |
H3-3A |
H3-3B |
H4C3 |
HACE1 |
HADHA |
HCCS |
HCFC1 |
HCN1 |
HDAC4 |
HDAC8 |
HECW2 |
HEPACAM |
HERC1 |
HERC2 |
HESX1 |
HEXA |
HEXB |
HGSNAT |
HIBCH |
HID1 |
HIVEP2 |
HK1 |
HLCS |
HMGB1 |
HMGCL |
HNMT |
HNRNPH1 |
HNRNPH2 |
HNRNPK |
HNRNPR |
HNRNPU |
HOXA1 |
HPD |
HPDL |
HPRT1 |
HRAS |
HSD17B10 |
HSD17B4 |
HSPD1 |
HTRA2 |
HUWE1 |
IARS1 |
IBA57 |
IDH2 |
IDS |
IDUA |
IER3IP1 |
IFIH1 |
IFT172 |
IGF1 |
IGF1R |
IKBKG |
IL1RAPL1 |
IMPDH2 |
INPP5E |
INPP5K |
INTS1 |
IQSEC2 |
IRF2BPL |
IRX5 |
ITPA |
ITPR1 |
IVD |
JAM3 |
JARID2 |
KANSL1 |
KARS1 |
KAT5 |
KAT6A |
KAT6B |
KAT8 |
KCNA2 |
KCNB1 |
KCNC1 |
KCND2 |
KCNH1 |
KCNJ10 |
KCNJ11 |
KCNJ6 |
KCNK9 |
KCNMA1 |
KCNN2 |
KCNN3 |
KCNQ2 |
KCNQ3 |
KCNQ5 |
KCNT1 |
KCNT2 |
KCTD3 |
KCTD7 |
KDM1A |
KDM3B |
KDM4B |
KDM5B |
KDM5C |
KDM6A |
KDM6B |
KIAA0586 |
KIAA1109 |
KIDINS220 |
KIF11 |
KIF14 |
KIF1A |
KIF21B |
KIF2A |
KIF5A |
KIF5C |
KIF7 |
KIFBP |
KLF7 |
KLHL7 |
KMT2A |
KMT2C |
KMT2D |
KMT2E |
KMT5B |
KNL1 |
KPTN |
KRAS |
L1CAM |
L2HGDH |
LAMA1 |
LAMA2 |
LAMB1 |
LAMC3 |
LAMP2 |
LARGE1 |
LARP7 |
LARS1 |
LIAS |
LIG4 |
LINGO4 |
LINS1 |
LIPT1 |
LMBRD2 |
LMNB1 |
LONP1 |
LRP2 |
LRPPRC |
LSS |
LYRM7 |
LZTR1 |
MAB21L1 |
MAB21L2 |
MACF1 |
MADD |
MAF |
MAGEL2 |
MAN1B1 |
MAN2B1 |
MANBA |
MAOA |
MAP1B |
MAP2K1 |
MAP2K2 |
MAPK1 |
MAPK8IP3 |
MAPRE2 |
MASP1 |
MAST1 |
MAT1A |
MBD5 |
MBOAT7 |
MBTPS2 |
MCCC1 |
MCCC2 |
MCM3AP |
MCOLN1 |
MCPH1 |
MDH2 |
MECP2 |
MED12 |
MED13 |
MED13L |
MED17 |
MED23 |
MED25 |
MED27 |
MEF2C |
MEIS2 |
METTL23 |
METTL5 |
MFF |
MFSD2A |
MFSD8 |
MGAT2 |
MICU1 |
MID1 |
MINPP1 |
MKKS |
MKS1 |
MLC1 |
MLYCD |
MMAA |
MMAB |
MMACHC |
MMADHC |
MMUT |
MN1 |
MOCS1 |
MOCS2 |
MOGS |
MORC2 |
MPDU1 |
MPLKIP |
MPP5 |
MRPS22 |
MRPS34 |
MSL3 |
MSMO1 |
MTFMT |
MTHFR |
MTHFS |
MTO1 |
MTOR |
MTR |
MTRR |
MVK |
MYCN |
MYO5A |
MYT1L |
NAA10 |
NAA15 |
NACC1 |
NAGA |
NAGLU |
NALCN |
NANS |
NAPB |
NARS1 |
NBEA |
NCDN |
NCKAP1 |
NDE1 |
NDP |
NDST1 |
NDUFA1 |
NDUFA2 |
NDUFS1 |
NDUFS4 |
NDUFS7 |
NDUFS8 |
NDUFV1 |
NEDD4L |
NEMF |
NEU1 |
NEUROD2 |
NEXMIF |
NF1 |
NFASC |
NFIA |
NFIX |
NFU1 |
NGLY1 |
NHS |
NIPBL |
NKAP |
NKX2-1 |
NLGN3 |
NONO |
NOVA2 |
NPC1 |
NPC2 |
NPHP1 |
NR2F1 |
NR4A2 |
NRAS |
NRCAM |
NRROS |
NRXN1 |
NSD1 |
NSD2 |
NSDHL |
NSRP1 |
NSUN2 |
NT5C2 |
NTNG2 |
NTRK1 |
NTRK2 |
NUBPL |
NUDT2 |
NUS1 |
OCLN |
OCRL |
ODC1 |
OFD1 |
OGDHL |
OGT |
OPA3 |
OPHN1 |
OSGEP |
OTC |
OTUD5 |
OTUD6B |
OTX2 |
OXR1 |
P4HTM |
PACS1 |
PACS2 |
PAFAH1B1 |
PAH |
PAK1 |
PAK3 |
PARN |
PAX6 |
PAX8 |
PBX1 |
PC |
PCCA |
PCCB |
PCDH12 |
PCDH19 |
PCDHGC4 |
PCGF2 |
PCNT |
PCYT2 |
PDE4D |
PDGFRB |
PDHA1 |
PDHB |
PDHX |
PDSS1 |
PDSS2 |
PDZD8 |
PEPD |
PET100 |
PEX1 |
PEX10 |
PEX11B |
PEX12 |
PEX13 |
PEX14 |
PEX16 |
PEX19 |
PEX2 |
PEX26 |
PEX3 |
PEX5 |
PEX6 |
PEX7 |
PGAP1 |
PGAP2 |
PGAP3 |
PGK1 |
PGM2L1 |
PGM3 |
PHACTR1 |
PHF21A |
PHF6 |
PHF8 |
PHGDH |
PHIP |
PI4KA |
PIBF1 |
PIDD1 |
PIGA |
PIGB |
PIGC |
PIGG |
PIGH |
PIGK |
PIGL |
PIGN |
PIGO |
PIGP |
PIGQ |
PIGS |
PIGT |
PIGU |
PIGV |
PIGW |
PIK3CA |
PIK3R2 |
PITRM1 |
PLA2G6 |
PLAA |
PLCB1 |
PLK4 |
PLP1 |
PLPBP |
PMM2 |
PMPCB |
PNKP |
PNPLA6 |
PNPT1 |
POGZ |
POLA1 |
POLG |
POLR1C |
POLR2A |
POLR3A |
POLR3B |
POLRMT |
POMGNT1 |
POMGNT2 |
POMT1 |
POMT2 |
PORCN |
POU3F3 |
PPIL1 |
PPM1D |
PPP1CB |
PPP1R12A |
PPP1R15B |
PPP1R21 |
PPP2CA |
PPP2R1A |
PPP2R5D |
PPP3CA |
PPT1 |
PQBP1 |
PRDM13 |
PRICKLE2 |
PRMT7 |
PRPF8 |
PRPS1 |
PRR12 |
PRSS12 |
PRUNE1 |
PSAP |
PSMD12 |
PSPH |
PTCH1 |
PTCHD1 |
PTDSS1 |
PTEN |
PTF1A |
PTPN11 |
PTPN23 |
PTPN4 |
PTRHD1 |
PTS |
PUF60 |
PUM1 |
PURA |
PUS1 |
PUS3 |
PUS7 |
PYCR1 |
PYCR2 |
QARS1 |
QDPR |
QRICH1 |
RAB11A |
RAB11B |
RAB18 |
RAB23 |
RAB39B |
RAB3GAP1 |
RAB3GAP2 |
RAC1 |
RAC3 |
RAD21 |
RAF1 |
RAI1 |
RALA |
RALGAPA1 |
RARB |
RARS1 |
RARS2 |
RBBP8 |
RBM10 |
RELN |
RERE |
RFT1 |
RFX3 |
RFX4 |
RFX7 |
RHOBTB2 |
RIT1 |
RLIM |
RMND1 |
RNASEH2A |
RNASEH2B |
RNASEH2C |
RNASET2 |
RNF113A |
RNF125 |
RNF13 |
RNU7-1 |
ROGDI |
ROR2 |
RORA |
RPGRIP1L |
RPIA |
RPL10 |
RPS6KA3 |
RRM2B |
RSRC1 |
RTEL1 |
RTN4IP1 |
RTTN |
RXYLT1 |
SAMD9 |
SAMHD1 |
SARS2 |
SATB1 |
SATB2 |
SBF1 |
SC5D |
SCAF4 |
SCAMP5 |
SCAPER |
SCN1A |
SCN2A |
SCN3A |
SCN8A |
SCO2 |
SCYL1 |
SDCCAG8 |
SDHA |
SDHAF1 |
SEPSECS |
SERAC1 |
SET |
SETBP1 |
SETD1A |
SETD1B |
SETD2 |
SETD5 |
SFXN4 |
SGPL1 |
SGSH |
SHANK2 |
SHANK3 |
SHH |
SHMT2 |
SHOC2 |
SIAH1 |
SIK1 |
SIL1 |
SIN3A |
SIN3B |
SIX3 |
SKI |
SLC12A2 |
SLC12A5 |
SLC12A6 |
SLC13A5 |
SLC16A2 |
SLC17A5 |
SLC19A3 |
SLC1A1 |
SLC1A2 |
SLC1A4 |
SLC25A1 |
SLC25A12 |
SLC25A15 |
SLC25A22 |
SLC2A1 |
SLC33A1 |
SLC35A1 |
SLC35A2 |
SLC35C1 |
SLC38A3 |
SLC39A14 |
SLC39A8 |
SLC46A1 |
SLC4A4 |
SLC5A6 |
SLC6A1 |
SLC6A17 |
SLC6A19 |
SLC6A3 |
SLC6A8 |
SLC6A9 |
SLC9A6 |
SLX4 |
SMAD4 |
SMARCA2 |
SMARCA4 |
SMARCA5 |
SMARCB1 |
SMARCC2 |
SMARCD1 |
SMARCE1 |
SMC1A |
SMC3 |
SMG8 |
SMOC1 |
SMPD1 |
SMPD4 |
SMS |
SNAP25 |
SNAP29 |
SNIP1 |
SNORD118 |
SNRPB |
SNX14 |
SNX27 |
SON |
SOS1 |
SOS2 |
SOX10 |
SOX11 |
SOX2 |
SOX4 |
SOX5 |
SOX6 |
SOX9 |
SPART |
SPATA5 |
SPATA5L1 |
SPECC1L |
SPEN |
SPG11 |
SPOP |
SPR |
SPRED1 |
SPRED2 |
SPTAN1 |
SPTBN1 |
SPTBN2 |
SPTBN4 |
SRCAP |
SRD5A3 |
SRRM2 |
SSR4 |
ST3GAL3 |
ST3GAL5 |
STAG1 |
STAG2 |
STAMBP |
STIL |
STRA6 |
STRADA |
STT3A |
STX1B |
STXBP1 |
SUCLG1 |
SUMF1 |
SUOX |
SUPT16H |
SURF1 |
SUZ12 |
SVBP |
SYN1 |
SYNCRIP |
SYNGAP1 |
SYNJ1 |
SYP |
SYT1 |
SZT2 |
TAF1 |
TAF6 |
TAF8 |
TANC2 |
TANGO2 |
TAOK1 |
TASP1 |
TAT |
TAZ |
TBC1D20 |
TBC1D23 |
TBC1D24 |
TBCD |
TBCE |
TBCK |
TBL1XR1 |
TBR1 |
TCF20 |
TCF4 |
TCF7L2 |
TCN2 |
TCTN2 |
TCTN3 |
TDP2 |
TECPR2 |
TELO2 |
TENM3 |
TET3 |
TFE3 |
TGIF1 |
TH |
THOC2 |
THOC6 |
THRA |
THUMPD1 |
TIAM1 |
TIMM50 |
TLK2 |
TMCO1 |
TMEM106B |
TMEM165 |
TMEM216 |
TMEM222 |
TMEM237 |
TMEM240 |
TMEM63C |
TMEM67 |
TMEM70 |
TMEM94 |
TMTC3 |
TMX2 |
TNPO2 |
TNRC6B |
TOE1 |
TOR1A |
TP73 |
TPP1 |
TPP2 |
TRAF7 |
TRAIP |
TRAPPC12 |
TRAPPC4 |
TRAPPC6B |
TRAPPC9 |
TREX1 |
TRIM8 |
TRIO |
TRIP12 |
TRIT1 |
TRMT1 |
TRMT10A |
TRNT1 |
TRPM3 |
TRRAP |
TSC1 |
TSC2 |
TSEN2 |
TSEN34 |
TSEN54 |
TSFM |
TSHB |
TSPAN7 |
TTC19 |
TTC37 |
TTC5 |
TTC8 |
TTI2 |
TUBA1A |
TUBB |
TUBB2A |
TUBB2B |
TUBB3 |
TUBB4A |
TUBG1 |
TUBGCP6 |
TUSC3 |
TWIST1 |
UBA5 |
UBE2A |
UBE3A |
UBE3B |
UBE4A |
UBR1 |
UBR7 |
UBTF |
UFM1 |
UFSP2 |
UGDH |
UGP2 |
UMPS |
UNC80 |
UPF3B |
UROC1 |
USP7 |
USP9X |
VAMP2 |
VARS1 |
VARS2 |
VLDLR |
VPS11 |
VPS13B |
VPS41 |
VPS4A |
VPS53 |
VRK1 |
WAC |
WARS2 |
WASF1 |
WDFY3 |
WDPCP |
WDR26 |
WDR37 |
WDR4 |
WDR45 |
WDR45B |
WDR62 |
WDR73 |
WDR81 |
WNK3 |
WNT1 |
WWOX |
XRCC4 |
XYLT1 |
YIF1B |
YIPF5 |
YWHAG |
YY1 |
ZBTB18 |
ZBTB20 |
ZBTB24 |
ZBTB7A |
ZC4H2 |
ZDHHC9 |
ZEB2 |
ZFHX4 |
ZFYVE26 |
ZIC1 |
ZIC2 |
ZMIZ1 |
ZMYM2 |
ZMYND11 |
ZNF142 |
ZNF335 |
ZNF462 |
ZNF526 |
ZNF699 |
ZNF711 |
ZSWIM6 |
ago1 |
ago2 |