Panel del Síndrome de Meckel
B9D1, B9D2, CC2D2A#, CEP290*, KIF14, MKS1, NPHP3, RPGRIP1L#, TCTN2, TMEM107, TMEM216, TMEM231, TMEM67
B9D1, B9D2, CC2D2A#, CEP290*, KIF14, MKS1, NPHP3, RPGRIP1L#, TCTN2, TMEM107, TMEM216, TMEM231, TMEM67
SCNN1B, SCNN1G
AHI1, ARL13B, ARMC9, B9D1, B9D2, C21ORF2, C5ORF42, CC2D2A#, CEP104, CEP120, CEP164, CEP290*, CEP41, CSPP1, INPP5E, KIAA0556, KIAA0586#, KIAA0753, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L#, TCTN1#, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B,...
DNAJB11, DZIP1L, GANAB, HNF1B, JAG1, LRP5*, NOTCH2*, PKD1*, PKD2, PKHD1, PRKCSH, SEC61A1, SEC63
ACTN4*, ADCK4, ANLN, APOL1*, ARHGAP24, ARHGDIA, CD2AP, COL4A3, COL4A4, COL4A5, COQ2, COQ6, CRB2, CUBN*, DGKE, DLC1, EMP2, FAN1, FAT1, FN1, INF2, ITGA3, KANK1, KANK2, KANK4, LAGE3, LAMB2, LMX1B, LYZ, MAFB, MAGI2, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2,...
ADCY10, AGXT, ALPL, APRT, ATP6V0A4, ATP6V1B1, ATP7B, BSND, CA2, CASR, CLCN5, CLCNKA*, CLCNKB*, CLDN16, CLDN19, CLPB, CYP24A1, FAM20A, FOXI1, GNA11, GPHN, GRHPR, HNF4A, HOGA1, HPRT1, KCNJ1, MAGED2, MOCOS, MOCS1*, MOCS2, OCRL, PRPS1*, SLC12A1, SLC22A12, SLC26A1,...
ANKS6, CEP164, CEP290*, CEP83, DCDC2, GLIS2, IFT172, INVS, IQCB1, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, RPGRIP1L#, SDCCAG8, TMEM67, TTC21B, WDR19, ZNF423
ADCY3, ALMS1*, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP19, CEP290*, CPE, CUL4B, DYRK1B, GNAS, KSR2, LEP, LEPR#, MAGEL2, MC3R, MC4R, MKKS, MKS1, NR0B2, NTRK2, PCSK1, PHF6, PHIP, POMC, PPARG, SDCCAG8, SH2B1, SIM1,...
CEP290*, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SCLT1#, SDCCAG8, TRAF3IP1
ACE, ACTG2, AGT, BMP4, CDC5L, CHD1L, DSTYK, EYA1, FAM58A, FANCB, FOXC2, FREM1, FREM2, GATA3, GREB1L, HNF1B, KYNU, PAX2, PBX1*, PUF60, REN, RET, ROBO2*, SALL1*, SIX1, SIX5, WT1
ATP6V0A4, ATP6V1B1, CA2, SLC4A1, SLC4A4
CUL3, HSD11B2, KCNJ5, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4
AGXT, GRHPR, HOGA1
ARMC4*#, C11ORF70, C21ORF59, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CFAP57, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH1, DNAH11*, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DYX1C1, GAS2L2, GAS8, HYDIN*#, INVS, LRRC56, LRRC6, MCIDAS,...
BSND, CASR, CLCNKB*, CLDN16, CLDN19, CNNM2, CNNM4, EGF, FAM111A, FXYD2, HNF1B, KCNA1, KCNJ10, MAGT1, NIPA2, PCBD1, SARS2, SLC12A3, TRPM6
ALPL, CLCN5, CYP27B1, CYP2R1, DMP1, ENPP1, FAH, FGF23, KL, PHEX, SLC34A1, SLC34A3, VDR
ADAMTS13, C3, CD46*, CFB, CFH*, CFHR5, CFI, DGKE, THBD
ANKS6, CEP164, CEP290*, CEP83, COL4A1, CRB2, DCDC2, DNAJB11, DZIP1L, EYA1, GANAB, GLIS2, HNF1B, IFT172, INVS, IQCB1, JAG1, LRP5*, MAPKBP1, NEK8, NOTCH2*, NPHP1, NPHP3, NPHP4, OFD1, PAX2, PKD1*, PKD2, PKHD1, PRKCSH, RPGRIP1L#, SDCCAG8, SEC61A1, SEC63, SIX5,...
AQP2, AVP, AVPR2
ACVR2B, ADAMTS9, AHI1, ALMS1*, ANKS6, ARL13B, ARL3, ARL6, ARMC9, ATXN10, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C21ORF2, C2CD3, C5ORF42, C8ORF37, CC2D2A#, CENPF, CEP104, CEP120, CEP164, CEP19, CEP290*, CEP41, CEP55, CEP83,...
EYA1, SIX1, SIX5, TFAP2A
ALMS1*, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8ORF37, CEP19, CEP290*, CPE, IFT172, IFT27, LZTFL1, MKKS, MKS1, PNPLA6, SCAPER, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP
AP2S1, BSND, CASR, CLCNKA*, CLCNKB*, GNA11, KCNJ1, MAGED2, SLC12A1, SLC12A3
CD151, COL4A3, COL4A4, COL4A5, COL4A6, MYH9
