1. Padaczka (panele IMiD):
Panel EIEE v.1/2016 (49 genów)
ALDH7A1, ALG13, ARX, CACNA1A, CASK, CDKL5, CHD2, DNM1, FOXG1, GABRA1, GABRB3, GABRG2, GNAO1, GRIN1, GRIN2A, GRIN2B, HCN1, HNRNPU, IQSEC2, KCNA2, KCNB1, KCNQ2, KCNQ3, KCNT1, MBD5, MECP2, MEF2C, PCDH19, PNPO, POLG, PRRT2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SIK1, SLC25A22, SLC2A1, SLC35A2, SLC9A6, SPTAN1, STXBP1, SYNGAP1,TBC1D24, TBL1XR1, TCF4, UBE3A, ZEB2
Panel NBE v.1/2018 (83 geny)
ABAT, ALDH4A1, ALDH7A1, ALG13, ALPL, AMT, ARHGEF9, ARX, BTD, CACNA1A, CASK, CDKL5, CHD2, DNM1, FOLR1, FOXG1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GLDC, GLRA1, GLRB, GNAO1, GPHN, GRIN1, GRIN2A, GRIN2B, HCN1, HNRNPU, IQSEC2, KCNA2, KCNB1, KCNJ10, KCNQ2, KCNQ3, KCNT1, LIAS, MBD5, MECP2, MEF2C, MOCS1, MOCS2, PCDH19, PGAP2, PHGDH, PHOX2B, PIGA, PIGO, PIGV, PMM2, PNPO, POLG, PROSC, PRRT2, PSAT1, PSPH, PURA, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SIK1, SLC25A22, SLC2A1, SLC35A2, SLC6A5, SLC6A8, SLC9A6, SPTAN1, STXBP1, SUOX, SYNGAP1, TBC1D24, TBL1XR1, TCF4, TPP1, TSC1, TSC2, UBE3A, ZEB2
2. Encefalopatie padaczkowe
OMIM Epileptic encephalopathy, early infantile – PS308350 – 89 Entries (OMIM www.omim.org/phenotypicSeries/PS308350)
Genetic epilepsy syndromes Version 2.143 (Genomics England PanelApp; https://panelapp.genomicsengland.co.uk/panels/402/)
3. Choroba Parkinsona
OMIM Parkinson Disease Phenotypic Series – PS168600; (OMIM; https://www.omim.org/phenotypicSeries/PS168600)
Parkinson Disease and Complex Parkinsonism V 1.68; (Genomics England PanelApp; https://panelapp.genomicsengland.co.uk/panels/39/)
ADAR, ADCY5, ADH1C, ANO3 , ATM, ATP13A2 , ATP1A3, ATP7B, BCAP31, C19ORF12, CACNA1A, CHCHD2 , COASY, COL6A3 , COX20, CSF1R, DCTN1, DNAJC12, DNAJC6, EIF4G1, FA2H, FBXO7, FTL, GBA, GCDH, GCH1, GIGYF2, GLUD2, GNAL, GRN, HPCA , HTRA2 , KCNA1, KCNMA1, KCTD17, KIF1C, KMT2B, LRRK2, LYST, MAPT, MECR, MR1, OPA3, PANK2, PARK2, PARK7 (DJ1), PINK1, PLA2G6, PNKD (MR1), PRKN (PARK2), PRKRA, PRRT2 , RAB39B, SCN8A, SGCE , SLC19A3, SLC30A10, SLC2A1, SLC30A10, SLC39A14, SLC6A3, SNCA, SPG11, SPR, SYNJ1, TAF1, TH, THAP1, TOR1A, TUBB4A, UCHL1, VAC14, VPS13A, VPS13C, VPS35, WDR45
4. Dystonia
OMIM Phenotypic Series Seizures, Dystonia – PS128100 (OMIM; https://www.omim.org/phenotypicSeries/PS128100)
ADAR, ADCY5, ANO3, ATM, ATP1A3, ATP7B, BCAP31, CACNA1A, COASY, COL6A3, COX20, DNAJC12, FA2H, FBXO7, FTL, GCDH, GCH1, GNAL, HPCA, KCD17, KCNA1, KCNMA1, KIF1C, KMT2B, MECR, PANK2, PINK1, PLA2G6, PNKD (MR1 – ex1), PRKN (PARK2), PRKRA, PRRT2, SCN8A, SGCE, SLC19A3, SLC2A1, SLC30A10, SLC39A14, SLC6A3, SPR, TAF1, TH, THAP1, TOR1A, TUBB4A, VAC14, VPS13A
5. Pęcherzowe oddzielanie naskórka (Epidermolysis bullosa)
COL17A1, COL7A1, DSP, DST, EXPH5, FERMT1, ITGA6, ITGB4, JUP, KRT5, KRT14, LAMA3, LAMB3, LAMC2, PKP1, PLEC, TGM5, VPS33B, CHST8, ITGA3, CD151, KLHL24
6. Rybia łuska
AAGAB, ABCA12, ABHD5, ADAM10, ALDH3A2, ALOX12B,, ALOXE3, AP1S1, AQP5, CDSN, CLDN1, CSTA, CTSC, CYP4F22, DSG1, DSP, EBP, ENPP1, ERCC2, ERCC3, EXPH5, FERMT1, FLG (fragment sekwencji kodującej), GJA1, GJB2, GJB3, GJB4, GTF2H5, HOXC13, JUP, KANK2, KRT1, KRT10, KRT16, KRT17, KRT2, KRT9, LIPN, LOR, MBTPS2, MPLKIP, NIPAL4, NSDHL, PEX7, PHYH, PKP1, PNPLA1, POFUT1, POGLUT1, POMP, SERPINB7, SLC27A4, SLURP1, SNAP29, SPINK5, ST14, STS, SUMF1, TGM1, TRPV3, VPS33B
7.Niepłodność męska i żeńska (panel IMiD)
Analiza wybranych genów związanych z zespołem Kallmanna, hipogonadyzmem hipogonadotropowy (z anosmią lub bez)), zespołem CHARGE, zaburzeniami nasienia , niewrażliwością na androgeny, nawracającymi poronieniami/zakrzepicą, dysgenezją jajników:
ANOS1 (KAL), AR, BMP15, CFTR , CHD7, DUSP6, F2, F5, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, FSHR, GNRH1, GNRHR, IL17RD, KISS1, KISS1R, LHB, NSMF, PROK2, PROKR2, SEMA3A, SOX10, SPATA16, SPRY4, WDR11
8. Wybrane choroby metaboliczne (panel IMiD)
Choroba syropu klonowego: BCKDHA, BCKDHB, DBT
Acyduria metylomalonowa/zaburzenia kobalaminy: MMUT, MCEE, MMAA, MMAB
Acyduria metylomalonowa z homocysteinurią: MMADHC, MMACHC
Fenyloketonuria, hiperfenyloalaninemia, deficyt BH4, zaburzenia neurotransmisji dopaminergicznej i serotoninergicznej: GCH1, PTS, SPR, PCBD1, QDRP, QDRP, PAH, TH, TPH, DDC, MAOA, DBH, DNAJC12
9. Niedosłuch (panel IMiD)
ACTG1, ADCY1, ADGRV1, AIFM1, ARSG, ATP2B2, ATP6V1B2, BCS1L, BSND, CATSPER2, CD164, CDC14A, CDH23, CEACAM16, CHD7, CIB2, CISD2, CLDN14, CLDN9, CLIC5, CLPP, CLRN1, CLRN2, COCH, COL11A1, COL11A2, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRYM, DCDC2, DIABLO, DIAPH1, DIAPH3, DMXL2, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ERAL1, ESPN, ESRP1, ESRRB, EYA1, EYA4, FDXR, FGF3, FOXI1, GAB1, GATA3, GIPC3, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GRAP, GREB1L, GRHL2, GRXCR1, GRXCR2, GSDME, HARS1, HARS2, HGF, HOMER2, HSD17B4, ILDR1, KARS1, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LMX1A, LOXHD1, LRTOMT, MAP1B, MARVELD2, MET, MIR96, MITF, MPZL2, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDE1C, PDZD7, PJVK, PLS1, PNPT1, POLR1B, POLR1C, POLR1D, POU3F4, POU4F3, PPIP5K2, PRPS1, PTPRQ, RDX, REST, RIPOR2, ROR1, S1PR2, SCD5, SEMA3E, SERPINB6, SIX1, SIX5, SLC12A2, SLC17A8, SLC26A4, SLC26A5, SLC4A11, SLITRK6, SMPX, SOX10, SPNS2, STRC, SYNE4, TBC1D24, TCOF1, TECTA, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TRRAP, TSPEAR, TWNK/C10ORF2, USH1C, USH1G, USH2A, WBP2, WFS1, WHRN
10. Dysplazja szkieletowa (panel IMiD)
PTH1R, ALX1, ALX3, C21ORF2, IFT122, IFT43, IFT52, WDR35, GJA1, MAP3K7, ADAMTSL2, SOX9, FN1, TTC21B, COL9A3, ALPL, ALX4, NIN, LOXL3, NOTCH2, TWIST2, IFT80, FLNA, IFT140, WDR19, COL9A2, COL2A1, COL11A2, COL11A1, COL9A1, SCARF2
11. Dyzostozy (panel IMiD)
ZSWIM6, PDE4D, EDNRA, EFTUD2, POLR1A, PRKAR1A, CTSK, TXNL4A, EVC, EVC2, SF3B4, POLR1C, POLR1D, TCOF1
12. Exostozy (panel IMiD)
EXT1, EXT2
13. Fenotyp marfanoidalny (panel IMiD)
COL6A1, COL6A2, COL6A3, FBN2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, FBN1
14. Kraniosynostoza (panel IMiD)
PHEX, MED13L, FGFR3, IHH, NOG, SIX2, EFNB1, TMCO1, SPRY4, TRIM37, IL11RA, CYP26B1, MSX2, SMAD6, TCF12, ZIC1, ERF, IDS, HUWE1, FREM1, JAG1, POR, KAT6A, ASXL1, RAB23, MEGF8, GLI3, TFAP2B, P4HB, SEC24D, FGFR2, SMO, IRX5, FGF9, ZEB2, RUNX2, MID1, SPECC1L, FGFR1, TBL1XR1, SLC25A24, FAM20C, ESCO2, RECQL4, TWIST1, SKI, SOX6, ZNF462, AHDC1
15. Niskorosłość (panel IMiD)
STAT3, BMP2, SOST, GH1, GHRHR, GHSR, BTK, GHR, GNPTAB, ARSB, IDUA, HESX1, STAT5B, RNPC3, ACAN, GSC, IGF1R, IGFALS, LHX3, LHX4, NPR2, PCNT, RPL10, SHOX, SOX3, TOP3A, POU1F1, PROP1, IGF1, CRIPT, DONSON, OTX2, AMER1, GLI1, GNAS, SOX2, B3GAT3, COLEC10, COLEC11, MASP1, AMMECR1, PITX2, ASXL3, BLM, PNPLA6, TGDS, GLI2, WNT7A, PROKR2, FAM111A, TBCE, NEK1, DYNC2H1, CDC45, CDC6, CDT1, GMNN, MCM5, ORC1, ORC4, ORC6, DHODH, SAMD9, SNRPB, LIG4, MED12, LMX1B, INSR, EIF4A3, DVL1, DVL3, FZD2, NXN, ROR2, WNT5A, RNU4ATAC, ATR, CENPJ, CEP152, CEP63, DNA2, NSMCE2, RBBP8, TRAIP, PIK3R1, H19, IGF2, GRHL3, NSD2
16. RASopatie i zespoły dysmorficzne (panel IMiD)
NF1, FBXW11, TRAF7, ACTB, ACTG1, CCDC8, OBSL1, CUL7, FGD1, HNRNPK, PHF6, RPS6KA3, ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCC2, SMARCD2, SMARCE1, SOX11, SOX4, SMARCB1, BRD4, HDAC8, NIPBL, RAD21, SMC1A, SMC3, HRAS, SH3PXD2B, ANKRD11, KDM6A, KMT2D, EHMT1, KCNJ2, SPRED1, SMAD4, SMARCA2, SETD5, A2ML1, KRAS, MAPK1, MRAS, NRAS, PTPN11, RAF1, RIT1, RRAS, RRAS2, SOS1, SOS2, BRAF, CDC42, LZTR1, CBL, PPP1CB, SHOC2, EP300, CREBBP, KAT6B, MAP2K1, MAP2K2, HMGA2, PLAG1, DHCR7, IRF6, KMT2A
17. Schwannomatoza
NF2, KIT
18. Wrodzona łamliwość kości (panel IMiD)
COL1A2, COL1A1, PPIB, IFITM5, FKBP10, BMP1, CREB3L1, CRTAP, MBTPS2, FAM46A, SERPINF1, P3H1, SERPINH1, SP7, TMEM38B, WNT1, SPARC
19. Zespół CHARGE (panel IMiD)
CHD7, SEMA3E
20. Zespół Ehlersa-Danlosa (panel IMiD)
SLC39A13, ADAMTS2, B3GALT6, TNXB, COL5A1, COL5A2, FKBP14, PLOD1, AEBP1, COL12A1, COL3A1, C1R, C1S, CHST14, DSE
21. Zespół Gorlina (panel IMiD)
PTCH1, PTCH2, SUFU
22. Zespół Klippel-Feila (panel IMiD)
GDF3, GDF6, MEOX1, RIPPLY2
23. Zespół nadmiernego wrostu (overgrowth) (panel IMiD)
KLLN, DNMT3A, AKT2, HERC1, AKT3, CCND2, PIK3R2, PPP2R5D, TCF20, CHD8, PDGFRB, CDKN1C, ABCC9, EED, PIK3CA, SEC23B, PTEN, AKT1, LRP2, SUZ12, GPC4, SETD2, DIS3L2, HIST1H1E, ASXL2, GPC3, OFD1, MTOR, NSD1, NFIX, RNF125, FIBP, RNF135, EZH2
24. Zespół uszno-kłykciowy (panel IMiD)
EDN1, GNAI3, PLCB4