Lista dei Pannelli

Tutti i pannelli qui sotto sono immediatamente disponibili per il test genetico. Reperti incidentali (incidental findings): su richiesta e previo consenso del paziente.

Pannelli

Pan81Acidemia metilmalonica (ABCD4, ACSF3, CD320, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, SUCLA2, SUCLG1)
Pan187Acidosi tubulare renale (AGL, ALDOB, ATP6B1, ATP6V0A4, ATP6V1B1, CA2, CAD, CLCN5, CLDN16, CPT1A, EHHADH, EPG5, FBXL4, G6PC, GSS, HPD, JAG1, KYNU, LCT, NADK2, NOTCH2, OCRL, PC, RMND1, RRM2B, SLC26A6, SLC2A2, SLC4A1, SLC4A4, SUCLA2, TCIRG1, UQCC2, VPS33B, WNK4, XDH)
Pan191Acromatopsia (ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H)
Pan3Albinismo e sindrome di Hermansky-Pudlak (AP3B1, BLOC1S3, BLOC1S6, C10ORF11, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, MC1R, MLPH, MITF, MYO5A, OCA2, RAB27A, SLC45A2, TYR, TYRP1).
Pan66Amaurosi congenita di Leber (AIPL1, CABP4, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13 , LCA5, LRAT, NMNAT1, OTX2, PRPH2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1)
Pan167Anemia congenita (ABCB7, ABCD4, ADAMTS13, ALAS2, AMN, ANK1, ATM, ATR, ATRX, BLM, BRCA1, BRCA2, BRIP1, C15ORF41, CDAN1, COX4I2, CUBN, DHFR, EPB42, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FTCD, G6PD, GATA1, GIF, GLRX5, GPI, GSS, HBA1, HBA2, HBB, HFE, LMBRD1, KLF1, LPIN2, MMACHC, MMADHC, MTR, MTRR, NBN, PALB2, PC, PDHA1, PDHX, PIEZO1, PKLR, PUS1, RAD51C, RPL11, RPL15, RPL35A, RPL15, RPL26, RPL27, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS28, RPS29, RPS7, SBDS, SEC23B, SLC19A2, SLC25A38, SLC4A1, SLX4, SPTA1, SPTB, TCN2, THBD, TMPRSS6, TPI1, TRNT1, TSR2, XRCC2, YARS2)
Pan39Anemia di Diamond-Blackfan (GATA1, RPL11, RPL35A, RPL5, RPL15, RPL26, RPL27, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2)
Pan50Anemia di Fanconi (BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCM, FANCG, FANCI, FANCL, MAD2L2, PALB2, RAD51A, RAD51C, RFWD3, SLX4, UBE2T, XRCC2)
Pan78Anemia megaloblastica con o senza omocistinuria – difetti del metabolismo intracellulare della cobalamina (AMN, CUBN, GIF, SLC19A2, DHFR, MTR, MMACHC, MMADHC, MTRR, LMBRD1, ABCD4)
Pan8Aneurisma aortico familiare toracico (MYH11, ACTA2, TGFBR1, TGFBR2, FBN1, COL3A1, SMAD3, FBN2, SLC2A10, MYLK, TGFB2)
Pan7Anoftalmia/microftalmia, isolata/sindromica (ALDH1A3, ALX1, BCOR, BMP4, COX14, COA5, CHD7, COX6B1, CRYBA4, CRYBB2, CRYGD, DPYD, ERCC6, ESCO2, EYA1, FASTKD2, FOXE3, FOXL2, FRAS1, FREM1, FREM2, GDF3, GDF6, GJA1, GLI3, HCCS, HDAC6, HESX1, HMX1, IKBKG, ISPD, KERA, KIF11, MAF, MBTPS2, MFRP, NAA10, NDP, NHS, OCLN, OTX2, PAX2, PAX6, PHGDH, POMT1, PORCN, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RAX, RIPK4, SALL4, SHH, SIX3, SIX6, SLC36A2, SLC6A19, SLC6A20, SMAD4, SMOC1, SOX2, STRA6, TBX1, TFAP2A, VCAN, VSX2, WDR73, ZBTB20)
Pan9Aritmie ereditarie (AKAP9, ANK2, CACNA1C, CACNB2, CASQ2, CAV3, CTNNA3, DSC2, DSG2, DSP, GPD1L, JUP, KCNA5, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, NPPA, PKP2, PLN, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TGFB3, TMEM43)
Pan11Artrogriposi distale e altre contratture degli arti (ADCY6, ECEL1, FBN1, FBN2, MYBPC1, NALCN, MYH3, MYH8, PIEZO2, TNNI2, TNNT3, TPM2, VIPAS39)
Pan12Ashkenazi – patologie frequenti (GBA, CFTR, HEXA, IKBKAP, ASPA, G6PC, ABCC8, MCOLN1, BCKDHB, FANCC, DLD, SMPD1, CLRN1, PCDH15, BLM, NEB, BRCA1, BRCA2)
Pan25Atassia cerebellare (ADCK3, APTX, COQ2, COQ9, DNMT1, FXN, PDSS1, PDSS2, POLG, SACS, SETX, SYNE1, TTPA, VLDLR)
Pan94Atassia con aprassia oculomotoria (APTX, PIK3R5, SETX, PNKP)
Pan160Atassia spinocerebellare, basic – SCA tipi 1, 2, 3, 6, 7, 17 ( ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, TBP)
Pan161Atassia spinocerebellare, basic plus – SCA tipi 1, 2, 3, 6, 7, 8, 10, 12, 17, 36 (ATXN1, ATXN2, ATXN3, ATXN7,ATXN8, ATXN8OS, CACNA1A, NOP56, PPP2R2B, TBP)
Pan111Atassia spinocerebellare, classico (ABCB7, ADCK3, AFG3L2, ANO10, APTX, ATXN1, ATXN2, ATXN3, ATXN7, ATN1, BEAN1, CACNA1A, CACNA1G, CCDC88C, DNMT1, EEF2, ELOVL4, FGF14, GRID2, GRM1, FXN, IFRD1, ITPR1, KCNC3, KCND3, PDYN, PMPCA, POLG, PRKCG, RNF216, RUBCN, SACS, SETX, SNX14, SPTBN2, SYNE1, SYT14, TBP, TDP1, TGM6, TRPC3, TTBK2, TTPA, TWNK, WWOX)
Pan158Atassia spinocerebellare, classico plus (ABCB7, ADCK3, AFG3L2, ANO10, APTX, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, ATXN8OS, ATXN10, ATN1, BEAN1, CACNA1A, CACNA1G, CCDC88C, DNMT1, EEF2, ELOVL4, FGF14, GRID2, GRM1, IFRD1, ITPR1, KCNC3, KCND3, PDYN, PMPCA, POLG, PPP2R2B, PRKCG, RNF216, RUBCN, SACS, SETX, SNX14, SPTBN2, SYNE1, SYT14, TBP, TDP1, TGM6, TRPC3, TTBK2, TTPA, TWNK, WWOX)
Pan159Atassia spinocerebellare, full at once (ABCB7, ADCK3, AFG3L2, ANO10, APTX, ATXN1, ATXN2, ATXN3, ATXN7, ATN1, BEAN1, CACNA1A, CACNA1G, CCDC88C, CWF19L1, DNMT1, EEF2, ELOVL4, ELOVL5, FGF14, FMR1, GRID2, GRM1, FXN, IFRD1, ITPR1, KCNC3, KCND3, NOP56, PDYN, PMPCA, POLG, PPP2R2B, PRKCG, RNF216, RUBCN, SACS, SCYL1, SETX, SLC9A1, SNX14, SPTBN2, STUB1, SYNE1, SYT14, TBP, TDP1, TDP2, TGM6, TMEM240, TRPC3, TTBK2, TTPA, TWNK, UBA5, VWA3B, WDR73, WWOX)
Pan162Atassia spinocerebellare, full stepwise (ABCB7, ADCK3, AFG3L2, ANO10, APTX, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, ATXN8OS, ATXN10, ATN1, BEAN1, CACNA1A, CACNA1G, CCDC88C, CWF19L1, DNMT1, EEF2, ELOVL4, ELOVL5, FGF14, GRID2, GRM1, FMR1, FXN, IFRD1, ITPR1, KCNC3, KCND3, NOP56, PDYN, PMPCA, POLG, PPP2R2B, PRKCG, RNF216, RUBCN, SACS, SCYL1, SETX, SLC9A1, SNX14, SPTBN2, STUB1, SYNE1, SYT14, TBP, TDP1, TDP2, TGM6, TMEM240, TRPC3, TTBK2, TTPA, TWNK, UBA5, VWA3B, WDR73, WWOX)
Pan47Atassie episodiche e loro diagnosi differenziale (ARG1, ASL, ASS1, BCKDHA, BCKDH, CACNA1A, CACNB4, CPS1, DBT, DLD, IVD, KCNA1, KCNQ2, OTC, PDHA1, PNKD, SLC6A19, SNC2A, SLC1A3)
Pan242Atrofia muscolare spinale (AR, ASAH1, ASCC1, ATP7A, BICD2, BSCL2, CHCHD10, DNAJB2, DYNC1H1, FBXO38, GARS, HSPB8, IGHMBP2, PLEKHG5, SIGMAR1, SLC5A7, SMN1, SMN2, TRIP4, TRPV4, UBA1, VAPB, VRK1)
Pan96Atrofia ottica (ACO2, AUH, CISD2, DNAJC19, MFN2, MTND3, OPA1, OPA3, RTN4IP1, SERAC1, SPG7, TIMM8A, TMEM126A, TWNK, WFS1, YME1L1, mtDNA)
Pan120Cancro della tiroide (APC, PTEN, RET)
Pan17Cancro ereditario della mammella e dell’ovaio (ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, MRE11A, NBN, PALB2, RAD50, RAD51C, RAD51D, PTEN, STK11, TP53)
Pan178Cancro ereditario della mammella e dell’ovaio, essenziale (BRCA1, BRCA2)
Pan31Cancro gastrico e del colon, con o senza poliposi (APC, BMPR1A, CDH1, MLH1, MLH3, MSH2, MSH6, MUTYH, PMS1, PMS2, PTEN, SMAD4, STK11, EPCAM)
Pan108Cancro renale (EPCAM, FH, FLCN, HNF1A, HNF1B, MET, MITF, MLH1, MSH2, MSH6, PMS1, PMS2, PTEN, SDHB, SDHD, TSC1, TSC2, VHL, WT1)
Pan99Carcinoma del pancreas (APC, ATM, BMPR1A, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS1, PMS2, PRSS1, SMAD4, STK11)
Pan10Cardiomiopatia aritmogenica del ventricolo destro (DSP, DSG2, DSC2, JUP, PKP2, RYR2, TGFB3, TMEM43)
Pan20Cardiomiopatia dilatativa (ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CSRP3, CRYAB, DES, DMD, DSG2, EYA4, FKTN, GATAD1, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, PRDM16, PSEN1, PSEN2, RBM20, SCN5A, SDHA, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL)
Pan21Cardiomiopatia ipertrofica (ACTC1, ACTN2, CALR3, CAV3, CSRP3, FLNC, GLA, JPH2, LAMP2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PLN, PRKAG2, PTPN11, SLC25A4, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL)
Pan22Cataratta, isolata, classico (AGK, BFSP1, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA1 , CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, EPHA2, FYCO1, GCNT2, GJA3, GJA8 , HSF4, LEMD2, LIM2, LSS , MAF, MIP, NHS , PITX3 , SIPA1L3, TDRD7, UNC45B, VIM, WFS1)
Pan157Cataratta, isolata, esteso (AGK, BFSP1, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA1 , CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, EPHA2, FYCO1, GCNT2, GJA3, GJA8 , HSF4, LEMD2, LIM2, LSS , MAF, MIP, NHS , PITX3 , SIPA1L3, TAPT1, TDRD7, UNC45B, VIM, WDR87, WFS1)
Pan233Cecità notturna congenita stazionaria (CACNA1F, GNAT1, GNB3, GRK1, GRM6, GPR179, LRIT3, NYX, PDE6B, RHO, SAG, SLC24A1, TRPM1)
Pan204Cherubismo e sua diagnosi differenziale (FMR1, GNAS, NF1, PTPN11, SH3BP2, SOS1)
Pan149Colestasi e difetti della sintesi degli acidi biliari (ABCB11, ABCB4, ABCD3, ACOX2, AKR1D1, AMACR, ATP8B1, CYP7B1, HSD3B7, NR1H4, TJP2)
Pan205Condrodisplasia puntata e sua diagnosi differenziale, escl. sindrome di Zellweger (AGPS, ASS, DHCR7, EBP, GGCX, GLB1, GNPAT, GNPTAB, GNS, HGSNAT, MGP, NAGLU, NSDHL, PEX7, SGSH, SUMF1, VKORC1)
Pan184Convulsioni febbrili e generalized epilepsy with febrile seizures plus [GEFS+] (ADGRV1, CPA6, GABRD, GABRG2, SCN1A,  SCN1B, SCN9A, STX1B)
Pan143Craniosinostosi FGFR-relate e loro diagnosi differenziale [incl. sindrome di Pfeiffer, sindrome di Apert, sindrome di Crouzon, sindrome di Beare-Stevenson, sinostosi coronale isolata FGFR2-relata, sindrome di Jackson-Weiss, sindrome di Crouzon con acanthosis nigricans, sindrome di Muenke, sindrome di Saethre-Chotzen, sindrome di Baller-Gerold, sindrome di Carpenter, sindrome craniofrontonasale, cefalopolisindattilia di Greig, sindrome di Shprintzen-Goldberg, craniosinostosi tipo Boston, sindrome di Loeys-Dietz] (EFNB1, FGFR1, FGFR2, FGFR3, GLI3, MSX2, POR, RAB23, RECQL4, SKI, TGFBR1, TGFBR2, TWIST1)
Pan226Cutis laxa (ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, FBLN5,  LTBP4, PYCR1)
Pan83Deficit del complesso mitocondriale IV – deficit di citocromo C ossidasi (APOPT1, C12ORF62, COA3, COA5, COA6, COX10, COX14, COX15, COX20, COX6B1, FARS2 FASTKD2, LRPPRC, MTCO1, MTCO2, MTCO3, MTTL1, MTTS1, PET100, POLG, SCO1, SCO2, SURF1, TACO1)
Pan54Demenza frontotemporale (CHMP2B, GRN, VCP, FUS, TARDBP, C9orf72 , MAPT, SIGMAR1, UBQLN2)
Pan38Diabete neonatale (ABCC8, FOXP3, G6PC2, GCK, GLIS3, INS, INSR, KCNJ11, NEUROG3, PDX1)
Pan123Difetti del ciclo dell’urea e iperammoniemie (ACADM, ACADS, ACADVL, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CPS1, CPT1A, CPT2, DBT, DLD, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HCFC1, HLCS, HMGCL, HMGCS2, IVD, MCCC1, MCCC2, MMAA, MMAB, MMACHC, MMADHC (C2ORF25) , MUT, NAGS, OTC, PC, PCCA, PCCB, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC7A7, SUCLA2, SUCLG1, TMEM70)
Pan57Difetti della glicosilazione (ALG1, ALG2, ALG3, ALG6, ALG8, ALG9, ALG11, ALG12, ALG13, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DOLK, DPAGT1, DPM1, DPM3, MGAT2, MOGS, MPDU1, MPI, PMM2, RFT1, SLC35A1, SLC35C1)
Pan197Difetti della glicosilazione, sperimentale (ALG1, ALG2, ALG3, ALG6, ALG8, ALG9, ALG11, ALG12, ALG13, ALG14, B3GALT6, B3GAT3, B4GALNT1, B3GALNT2, B4GALT1, B4GALT7, CAD, CCDC115, CHSY1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, CPS2, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM3, EOGT, EXT1, EXT2, FKTN, FKRP, GALNT3, GANAB, GFPT1, GMPPA, GMPPB, GNE, ISPD, LARGE, LFNG, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NANS, PGAP2, PGAP3, PGM1, PGM3, PMM2, POFUT1, POMGNT1, POMT1, POMT2, PRKCSH, RFT1, SEC23B, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC39A8, ST3GAL3, ST3GAL5, TMEM165, TMEM199, TMEM5, VPS13B, XYLT1, XYLT2)
Pan59Difetti della membrana del globulo rosso [incl.: sferocitosi ereditaria, ellissocitosi, piropoichilocitosi e stomatocitosi] (ABCB6, RHAG, RHCE, SLC2A1, ANK1, SPTB, SPTA1, EPB41, EPB42, ABCG5, ABCG8, SLC4A1, GYPC, HFE).
Pan92Difetti della migrazione neuronale (ACTB, ACTG1, ARFGEF2, ARX, COL18A1, COL4A1, CPT2, DCX, EMX2, EOMES, FGFR3, FH, FKRP, FKTN, FLNA, GPR56, IER3IP1, ISPD, LAMA2, LAMC3, LARGE, MED12, MEF2C, OCLN, PAFAH1B1, PAX6, PEX7, POMGNT1, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RELN, SNAP29, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3, WDR62)
Pan62Difetti della modificazione degli istoni e loro diagnosi differenziale [incl. sindrome di Wiedemann-Steiner, Kabuki, Coffin-Siris, Nicolaides-Baraitser e Cornelia de Lange] (ARID1A, ARID1B, HDAC8, NIPBL, KMT2A, KMT2D, KDM6A, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, RAD21)
Pan135Discheratosi congenita e sua diagnosi differenziale (ACD, CTC1, DKC1, NHP2, NOP10, PARN, POT1, RETL1, SNORD118, TERC, TERT, TINF2, WRAP53)
Pan28Discinesia ciliare primaria (ARMC4, C21ORF59, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, DNAAF1, DNAAF3, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DYX1C1, GAS8, HEATR2, HYDIN, KTU, LRRC6, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, TTC25, TXNDC3, ZMYND10)
Pan130Discinesia/corea familliare (ADYC5, NKX2-1, PRRT2, PNKD, SLC2A1)
Pan176Dislipedemia (ABCA1, ABCG5, ABCG8, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOC3, APOE, CETP, CYP27A1, CYP7A1, GPIHBP1, LCAT, LDLR, LDLRAP1, LIPA, LIPC, LIPG, LMF1, LPL, MTTP, MYLIP, PCSK9, SAR1B, SCARB1, SLCO1B1, STAP1)
Pan177Dislipidemia e obesità, sindromica e non-sindromica (ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS9, CEP290, DYRK1B, GNAS, LEP, LEPR, MAGEL2, MC4R, MKKS, MKS1, NR0B2, NTRK2, PCSK1, PHF6, POMC, SDCCAG8, SIM1, TRIM32, TTC8, VPS13B, WDPCP, ABCA1, ABCG5, ABCG8, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOC3, APOE, CETP, CYP27A1, CYP7A1, GPIHBP1, LCAT, LDLR, LDLRAP1, LIPA, LIPC, LIPG, LMF1, LPL, MTTP, MYLIP, PCSK9, SAR1B, SCARB1, SLCO1B1, STAP1)
Pan189Displasia ectodermica (CAMK2B, CDH3, EDA, EDA2R, EDAR, EDARADD, FZD6, GJB6, GREM2, GRHL2, HOXC13, IKBKG, JUP, MBTPS2, KDF1, KREMEN1, KRT14, KRT74, KRT85, MSX1, NECTIN1, NECTIN4, NFKBIA, ORAI1, PKP1, PRKD1, TP63, TRAF6, TWIST2, WNT10A)
Pan86Displasia epifiseale multipla (COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2)
Pan80Displasia metafisaria (ANKH, CDKN1C, FLNA, MMP9, MMP13, NKX3-2, RMRP, RUNX2)
Pan146Displasia spondilometafisaria e sua diagnosi differenziale (ACP5, BMP2, BMPR1B, C21orf2, COL11A1, COL11A2, COL2A1, GALNS, GDF5, GLB1, GPX4, HSPG2, IHH, NEK1, NOG, PAM16, PAPSS2, PCYT1A, PITX1, ROR2, TRAPPC2, TRPV4)
Pan166Displasie scheletriche, classico (ACP5, AGPS, ALPL, ARSE, B3GAT3, BMPR1B, BMP2, C21orf2, CANT1, CHST3, COL10A1, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CRTAP, DDR2, DYM, EBP, EIF2AK3, FGFR3, FLNB, GALNS, GDF5, GLB1, GPX4, HSPG2, IHH, IMPAD1, KIF22, LBR, P3H1, LIFR, MATN3, MMP13, MMP9, NEK1, NKX3-2, NOG, NSDHL, PAPSS2, PCYT1A, PITX1, PTH1R, RMRP, RNU4ATAC, ROR2, RUNX2, SLC26A2, SMARCAL1, SOX9, TRAPPC2, TRIP11, TRPV4, WISP3, XYLT1)
Pan164Displasie scheletriche, esteso (ACP5, AGPS, ALPL, ARSE, B3GAT3, BGN, BMPR1B, BMP2, C21orf2, CANT1, CHST3, COL10A1, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CRTAP, DDR2, DYM, EBP, EIF2AK3, FGFR3, FLNB, GALNS, GDF5, GLB1, GPX4, HSPG2, IHH, IMPAD1, INPPL1, KIF22, LBR, P3H1, LIFR, LONP1, MATN3, MMP13, MMP9, NANS, NEK1, NKX3-2, NOG, NSDHL, PAM16, PAPSS2, PCYT1A, PITX1, PTH1R, RNU4ATAC, ROR2, RSPRY1, RUNX2, SBDS, SLC26A2, SMARCAL1, SOX9, TRAPPC2, TRIP11, TRPV4, WISP3, XYLT1)
Pan41Distonia (GCH1, PNKD, PRRT2, SGCE, SLC2A1, SPR, TH, THAP1, TOR1A, VPS13A, mitochondrial DNA)
Pan32Distrofia dei coni/bastoncelli (ABCA4, ADAM9, AIPL1, BEST1, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, CRX, GUCA1A, GUCY2D, KCNV2, PDE6C, PDE6H, PITPNM3, PROM1, PRPH2, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, UNC119)
Pan69Distrofia muscolare dei cingoli (ANO5, CAPN3, CAV3, DAG1, DNAJB6, DYSF, FKRP, FKTN, LAMA2, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, SELENON, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32, TTN
Pan122Distrofia muscolare di Ullrich (COL6A1, COL6A2, COL6A3)
Pan13Disturbi dello spettro autistico (ADNP, ANKRD11, AFF2, ALDH5A1, ALDH7A1, AP1S2, ARID1B, ARX, ATRX, AVPR1A, BDNF, BRAF, CACNA1C, CASK, CDKL5, CHD2 CHD7, CHD8, CNTNAP2, CNTNAP5, CREBBP, DHCR7, DLGAP2, DMD, DOCK4, DPP10, DPP6, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, GABRG1, GAMT, GATM, GNA14, GRIA3, GRIN2B, GRPR, HERC2, HOXA1, HPRT1, IMMP2L, KATNAL2, KCTD13, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MET, MID1, NEGR1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PCDH9, PDE10A, PHF6, PIP5K1B, PNKP, PNPO, POGZ, PON3, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAI1, RBFOX1, RELN, RPL10, SATB2, SCN1A, SCN2A, SHANK2, SHANK3, SLC6A4, SLC9A6, SLC9A9, SMC1A, SMG6, SNRPN, SOX5, SPAST, ST7, STK3, SYNGAP1, TCF4, TSC1, TSC2, UBE3A, UPF3B VPS13B, ZEB2, ZNF507, ZNF804A, ZNHIT6)
Pan48Emicrania emiplegica familiare, CADASIL, vasculopatia retinica con leucodistrofia cerebrale, teleangectasia emorragica ereditaria, malformazioni cavernose cerebrali familiari & emiplegia alternante dell’infanzia (ATP1A2, CACNA1A, SCN1A, NOTHC3, TREX1, ENG, ACVRL1, SMAD4, KRIT1, CCM2)
Pan234Emofilia e altri disordini della coagulazione (ACTN1, ANO6, CD36, F2, F5, F7, F8, F9, F11, FGA, FGG, FGG, FLI1, GFI1B, GP1BA, GP1BB, GP6, GP9, HEXA, ITGA2B, ITGB3, LMAN1, MYH9, NBEAL2, P2RY12, PAI1, PLAU, PRKACG, RASGRP2, SLFN14, TBXAS1, VWD)
Pan46Encefalopatia epilettica (ACY1, ADSL, ALDH7A1, AMT, ARHGEF9, ARX, CDKL5, CNTNAP2, CPT2, FOLR1, FOXG1, GABRG2, GAMT, GCSH, GLDC, GRIN2A, GRIN2B, KCNJ10, KCNQ2, MAGI2, MAPK10, MECP2, MTHFR, NRXN1, PCDH19, PLCB1, PNKP, PNPO, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC25A22, SLC2A1, SLC9A6, SPTAN1, STXBP1, TBCE, TCF4, TREX1, UBE3A, ZEB2)
Pan42Encefalopatia epilettica infantile precoce (AARS, ALG13, AP3B2, ARHGEF9, ARV1, ARX, CACNA1A, CAD, CDKL5, DENND5A, DNM1, DOCK7, EEF1A2, FGF12, FRRS1L, GABRA1, GABRB1, GABRB3, GNAO1, GRIN2B, GRIN2D, GUF1, HCN1, HNRNPU, ITPA, KCNA2, KCNB1, KCNQ2, KCNT1, MDH2, NECAP1, PCDH19, PIGA, PIGP, PLCB1, PNKP, SCN1A, SCN1B, SCN2A, SCN8A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A12, SLC25A22, SLC35A2, SPTAN1, ST3GAL3, STXBP1, SYNJ1, SZT2, TBC1D24, UBA5, WWOX)
Pan44Epidermolisi bullosa (COL7A1, COL17A1, ITGA6, ITGB4, KRT5, KRT14, LAMA3, LAMB3, LAMC2, PLEC, CD151, CDSN, CHST8, CSTA, DSG1, DSG2, DSG4, DSP, DST, FERMT1, GRIP1, ITGA3 , MMP1, NID1, PKP1, TGM5)
Pan45Epilessia ereditaria (CACNA1H, CACNB4, CHRNA2, CHRNA4, CHRNB2, CLCN2, CPA6, EFHC1, GABRA1, GABRB3, GABRD, GABRG2, JRK, KCNMA1, KCNQ2, KCNQ3, KCNT1, LGI1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SRPX2)
Pan230Epilessia familiare del lobo temporale (CPA6, ETL2, ETL3, ETL4, ETL6, GAL, LGI1)
Pan228Epilessia familiare focale a loci variabili (DEPDC5, NPR2L, NPR3L, SCN3A)
Pan227Epilessia familiare mioclonica dell’adulto (ADRA2B, CNTN2, FAME3, FAME4, RAPGEF2, SAMD12, TNRC6A)
Pan231Epilessia notturna del lobo frontale (CHRNA2, CHRNA4, CHRNB2, ENFL2, KCNT1)
Pan229Epilessia progressiva mioclonica (CERS1, CSTB, EPM2A, GOSR2, KCNC1, KCTD7, LMNB2, NHLRC1, PRDM8, PRICKLE1, SCARB2)
Pan60Eterotassia viscerale, tetralogia di Fallot, associazione VATER & VACTERL(X) (ACVR2B, CFC1, CRELD1, GJA1, GDF1, FOXH1, LEFTY2, MMP21, NKX2-5, NODAL, ZIC3)
Pan104Feocromocitoma (MAX, PRKAR1A, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL)
Pan139Fibromialgia, diagnosi differenziale genetica (APOPT1, ACADVL, AMPD1, C12ORF62, CAV3, CLCN1, CNBP, COA3, COA5, COA6, COL1A1, COL5A1, COL5A2, COX10, COX14, COX15, COX20, COX6B1, CPT2, ENO3, FARS2, FASTKD2, FMR1, GAA, LDHA, LRPPRC, MTCO1, MTCO2, MTCO3, MTTL1 MTTS1, NOD2, PET100, PFKM, PGAM2, PGM1, PMP22, POLG, PYGM, SCO1, SCO2, SLC16A1, SPR, SURF1, TACO1, TNFRSF1A, TNXB)
Pan169Fibrosi cistica e sua diagnosi differenziale (ARMC4, C21ORF56, CA12, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFTR, DNAAF1, DNAAF3, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DYX1C1, GAS8, HEATR2, HYDIN, IL2RG, KTU, LRRC6, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SBDS, SCNN1A, SCNN1B, SCNN1G, SPAG1, TAP1, TAP2, TTC25, TXNDC3, ZMYND10)
Pan215Fibrosi congenita dei muscoli extraoculari e sua diagnosi differenziale (CHN1, HOXA1, KIF21A, PEO1, PHOX2A, POLG, ROBO3, SALL4, SLC25A4, TMPO, TUBB2B, TUBB3, mtDNA)
Pan190Fibrosi polmonare familiare (TERT, TERC, SFTPC, SFTPA2)
Pan52Fleck retina, coroideremia e degenerazione maculare età-correlata (ABCA4, CFH, CFB, CHM, EFEMP1, PLA2G5, RDH5, RLBP1, RS1, TIMP3, VPS13B)
Pan238Glaucoma primario congenito e sua diagnosi differenziale (CYP1B1, FOXC1, GNAQ, LTBP2, NF1, NHS, OCRL, PAX6, PITX2, SLC4A11, TEK, WT1)
Pan37Glomerulonefrite membranoproliferativa tipo II, malattia da depositi densi, sindrome emolitico-uremica atipica e porpora trombotica trombocitopenica (ADAMTS13, C3, CD46, CFB, CFHR1, CFHR3, CFHR4, CFHR5, CFH, CFI, DGKE, LMNA, LCAT, THBD).
Pan53Glomerulosclerosi segmentale focale/sindrome nefrotica (ACTN4, ANLN, ARHGDIA, CD2AP, COQ8B, CRB2, DGKE, EMP2, INF2, KANK2, LAMB2, MAGI2, MYO1E, NPHS1, NPHS2, NUP107, NUP205, NUP93, PAX2, PLCE1, PTPRO, SGPL1, TRPC6, WT1)
Pan170Immunodeficienza primaria (ADA, AICDA, AIRE, AK2, ATM, BAFFR B2M, BCL10, BLNK, BLOC1S6, BTK, CARD11, CARD14, CARD9, CASP10, CASP8, CD19, CD247, CD20, CD21, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD79A, CD79B, CD8A, CD81, CEBPE, CHD7, CIITA, CLPB, COPA, CORO1A, CR2, CSF2RA, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR4, CYBA, CYBB, DCLRE1B, DCLRE1C, DKC1, DNMT3B, DOCK2, DOCK8, ELANE, EPG5, FADD, FAS, FASLG, FCGR3A, FERMT3, FOXN1, FOXP3, FPR1, G6PC3, GATA2, GFI1, HAX1, ICOS, IFIH1, IFNGR1, IFNGR2, IGHM, IGLL1, IKBKB, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, IL1RN, IL21, IL21R, IL2RA, IL2RG, IL36RN, IL7R, IRAK4, IRF7, IRF8, ISG15, ITCH, ITGB2, ITK, JAGN1, JAK3, LAMTOR2, LCK, LIG4, LPIN2, LRBA, LRRC8A, LYST, MAGT1, MALT1, MAP3K14, MBL2, MCM4, MEFV, MOGS, MS4A1, MVK, MYD88, NBN, NCF1, NCF2, NCF4, NFAT5, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP12, NLRP3, NOD2, NOP10, ORAI1, PARN, PGM3, PIK3CD, PIK3R1, PLCG2, PMS2, PNP, POLE, PRF1, PRKCD, PRKDC, PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RBCK1, BLM, RFX5, RFXANK, RFXAP, RHOH, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RPSA, RTEL1, SAMHD1, SEMA3E, SH2D1A, SH3BP2, SLC29A3, SLC35C1, SLC37A4, SLC7A7, SMARCAL1, SP110, SPINK5, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TACI, TAP1, TAP2, TAPBP, TAZ, TBK1, TCF3, TCN2, TERC, TERT, TICAM1, TINF2, TLR3, TMC6, TMC8, TMEM173, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFSF12, TPP2, TRAF3, TRAF3IP2, TREX1, TRNT1, TTC7A, TYK2, UNC13D, UNC93B1, UNG, VPS13B, VPS45, WAS, WIPF1, XIAP, ZAP70, ZBTB24)
Pan129Infarto del miocardio, familiare (ABCG5, ABCG8, APOE, LRP6, LDLR, APOB, PCSK9, ACTC1, CALR3, CAV3, CSRP3, GLA, JPH2, LAMP2, LIPA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, PLN, PRKAG2, SLC25A4, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL)
Pan51Infertilità femminile (AR, BMP15, BRCA1, CYP21A2, DHEAST, DIAPH2, FIGLA, FMR1, FOXL2, FSHR, HFM1, LHB, LHCGR, MCMDC1, MCM8, NOBOX, NR5A1, POF1B, PSMC3IP, SHBG, SRD5A1, SRD5A2, STAG3, TUBB8)
Pan73Infertilità maschile (AR, CATSPER1, CFTR, FSHR, LHCGR, AZF)
Pan214Insensibilità congenita al dolore (CLTCL1, NGF, NTRK1, PRDM12, SCN9A, SCN11A, HPRT1, IKBKAP, MPV17, ZFHX2)
Pan186Insufficienza del midollo osseo  (AK2, ANKRD26, ATM, ATR, ATRX, BRCA2, BRIP1, C15ORF41, CBL, CDAN1, CEBPA, CTC1, DKC1, ELANE, ETV6, ERCC4, ETV6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, G6PC3, GATA1, GATA2, GFI1, HAX1, JAGN1, LIG4, MPL, NBN, NHP2, NOP10, PALB2, PAX5, RAD51C, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, RTEL1, RUNX1, SBDS, SLX4, SRP72, TCIRG1, TERC, TERT, TINF2, TP53, VPS45, WAS, WRAP53)
Pan241Insufficienza della spermatogenesi (AK7, AURKC, BRDT, CATSPER1, CFAP43, CFAP44, CFAP69, DNAH1, DPY19L2, FANCM, KLHL10, MEIOB, NANOS1, NR5A1, PMFBP1, PLCZ1, SEPT12, SLC26A8, SOHLH1, SPATA16, SPINK2, SUN5, SYCE1, SYCP3, TAF4B, TEX11, TEX14, TEX15, TDRD9, TSGA10, ZMYND15)
Pan237Insufficienza ovarica precoce (BMP15, DIAPH2, ERCC6, FANCM, FIGLA, FLJ22792, FOXL2, GDF9, HFM1, MCM8, MSH5, NOBOX, NR5A1, STAG3, SYCE1)
Pan148Iperaldosteronismo familiare e sua diagnosi differenziale (CACNA1D, CACNA1H, CYP11B1, CYP11B1/CYP11B2 fusion gene, HSD11B2, KCNJ5, NR3C1, NR3C2, SCNN1B, SCNN1G)
Pan49Ipercolesterolemia familiare e altri difetti del metabolismo lipoproteico (APOB, LDLR, PCSK9, APOE, LRP6, ABCG5, ABCG8)
Pan64Iperecplessia (ARHGEF9, GLRA1, GLRB, GPHN, SLC6A5)
Pan185Iperinsulinismo familiare (ABCC8, KCNJ11, GLUD1, GCK, HK1, HADH, HNF4A, HNF1A, INSR, SLC16A1, UCP2)
Pan239Iperossaluria primaria (AGXT, GRHPR, HOGA1)
Pan74Ipertermia maligna (CACNA1S, RYR1)
Pan153Ipoparatiroidismo ereditario, isolato (PTH, GCM2, CASR)
Pan210Ipoplasia cartilagine-capelli, displasia aneuxetica e loro diagnosi differenziale (COL10A1, DCLRE1C, ELANE, G6PC3, PTH1R, RAG1, RAG2, RMRP, SBDS, SMARCAL1, WAS)
Pan218Ipoplasia dermica focale e sua diagnosi differenziale (HCCS, IKBKG , PORCN, RECQL4, TP63)
Pan106Ipoplasia pontocerebellare, classico (CASK, CHMP1A, EXOSC3, RARS2, SEPSECS, TSEN2, TSEN34, TSEN54, VRK1)
Pan137Ipoplasia pontocerebellare, esteso (AMPD2, CASK, CHMP1A, CLP1, EXOSC3, EXOSC8, PCLO, RARS2, SEPSECS, TSEN15, TSEN2, TSEN34, TSEN54, VPS53, VRK1)
Pan33Ittiosi congenita (ALOX12B, ABCA12, ALOXE3, CYP4F22, LIPN, NIPAL4, PNPLA1, TGM1)
Pan1Leucemia mieloide acuta (ARHGEF12, CBFB, CEBPA, FLT3, GATA2, JAK2, KIT, LPP, NPM1, NPM1, NSD1, PICALM, RUNX1, SH3GL1, TERT)
Pan68Leucodistrofia (AARS, AARS2, ABAT, ABCD1, ACADS, ACER3, ACOX1, ACY1, ADAR, ADGRG1, ADSL, AHDC1, ALDH3A2, ALDH6A1, AMN, AMPD2, ANK3, AP4B1, AP4S1, APOPT1, ARHGAP31, ARHGEF10, ARNT2, ARSA, ASNS, ASPA, ASXL1, AUH, BCAP31, BCS1L, BEST1, BMP4, BRAT1, CARS2, CCDC88A, CHMP2B, CLCN2, CLN6, CLP1, COL4A1, COL4A2, COX10, COX15, COX7B, CPLX1, CSF1R, CTBP1, CTC1, CTDP1, CYP27A1, CYP7B1, D2HGDH, DAG1, DARS, DARS2, DDHD2, DEAF1, DHFR, DHH, DLL4, DNM2, DOCK6, DPYS, DYRK1A, EARS2, EDNRB, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ENTPD1, EPG5, ERCC2, ERCC6, ERCC8, FA2H, FAM126A, FBXL4, FGD4, FGFRL1, FIG4, FKRP, FOLR1, FOXC1, FOXG1, FOXRED1, GAA, GALC, GAN, GBE1, GCDH, GDAP1, GFAP, GFM1, GJA1, GJB1, GJC2, GLB1, GLUL, GLYCTK, GNAO1, GRM7, GRN, HEPACAM, HEXA, HSD17B4, HSPD1, HTRA1, IBA57, IDUA, IER3IP1, IFIH1, ISCA2, ITPA, KARS, KCNJ10, KCNT1, L2HGDH, LAMA1, LAMA2, LAMB1, LARGE1, LETM1, LIPT1, LITAF, LMNB1, LRPPRC, LYRM7, MAPT, MARS2, MAT1A, MCOLN1, MEF2C, MLC1, MOCS1, MOCS2, MPV17, MPZ, MRPS22, MTFMT, MTTP, MUT, NADK2, NDRG1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEFL, NFU1, NGLY1, NOTCH1, NOTCH3, NRXN1, NSD2, NUBPL, OCRL, PAFAH1B1, PC, PCDH12, PDYN, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PHGDH, PHYH, PIGA, PLEKHG2, PLP1, PMP22, POLG, POLR1C, POLR3A, POLR3B, POMK, POMT1, PPP2R1A, PRKDC, PRPS1, PRX, PSAP, PSEN1, PTEN, PURA, PYCR2, QARS, RARS, RBPJ, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, RPIA, RPS6KC1, SAMHD1, SBF2, SCP2, SDHA, SDHAF1, SDHB, SDHD, SEPSECS, SH3TC2, SHANK3, SHPK, SLC16A2, SLC17A5, SLC1A4, SLC25A1, SLC25A12, SLC25A22, SLC33A1, SLC35A2, SLC46A1, SLC6A8, SNIP1, SOX10, SPATA5, SPG11, SPG20, SPTAN1, SQSTM1, SSR4, STAMBP, STAT1, STXBP1, SUMF1, SURF1, SYNE1, TACO1, TAF2, TARS2, TM4SF20, TMEM126B, TMEM165, TMEM187, TMEM70, TRAPPC9, TREM2, TREX1, TRMT10A, TRMT5, TSC1, TSEN54, TUBB2A, TUBB4A, TUFM, TYMP, TYROBP, UBE2A, UPB1, VARS2, VCP, VPS11, WWOX, ZEB2, ZFYVE26, ZNF335)
Pan173Linfedema ereditario e altre condizioni con linfedema (CCBE1, FAT4, FLT4, FOXC2, GATA2, GJC2, KIF11, SOX18, VEGFC)
Pan58Linfoistiocitosi emofagocitica e sua diagnosi differenziale (PRF1, UNC13D, STX11, STXBP2, RAB27A, XIAP, SH2D1A, CHS1)
Pan26Lipofuscinosi ceroide neuronale (ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1)
Pan70Lissencefalia (ARX, CDK5, DCX, NDE1, KATNB1, LAMB1, PAFAH1B1, POMT1, POMT2, RELN, TUBA1A)
Pan195Lissencefalia e displasia corticale (KIF5C, KIF2A, TUBB2A, TUBB2B, TUBB, TUBB3, TUBG1, TUBA8, RELN, LAMB1, CDK5, TUBA1A, TMTC3, NDE1, KATNB1, MDLS, PAFAH1B1, ARX, DCX)
Pan75Malattia delle urine a sciroppo d’acero (BCKDHA, BCKDHB, DBT, DLD)
Pan5Malattia di Alzheimer e altre demenze (APOE, APP, C9orf72, CHMP2B, CSF1R, FUS, GRN, IL1RAP, MAPT, PRNP, PSEN1, PSEN2, SIGMAR1, SORL1, TARDBP, TREM2, UBE3A, UBQLN2, VCP)
Pan208Malattia di Camurati-Engelman e sua diagnosi differenziale (FAM111A, LRP5, SOST, TBXAS1, TGFB1, TNFRSF11B)
Pan209Malattia di Canavan e sua diagnosi differenziale (AMT, ARSA, ASPA, GCDH, GCSH, GFAP, GLDC, HEXA, mtDNA)
Pan61Malattia di Hirschsprung, non sindromica, suscettibilità a (ECE1, EDN3, EDNRB, GDNF, NRG1, NRG3, NRTN, RET)
Pan220Malattia di Niemann-Pick (NPC1, NCPC2, SMPD1)
Pan107Malattia di Refsum  (PEX1, PEX2, PEX26, PEX7, PHYH)
Pan116Malattia di Stargardt (ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, PROM1, PRPH2, RP1L1, RPGR, TIMP3, RIMS1)
Pan232Malattia granulomatosa cronica (CYBA, CYBB, NCF1, NCF2, NCF4)
Pan174Malattia Leventinese [o Drusen radiali dominanti o distrofia retinica a favo di Doyne] e sua diagnosi differenziale (ABCA4, BEST1, CFB, CFH, EFEMP1, TIMP3)
Pan55Malattie da accumulo di glicogeno (GYS1, GYS2, G6PC, SLC37A4, GAA, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PGAM2, LDHA, ALDOA, ENO3, PHKB, PHKA1, PGM1, GYG1, PRKAG2, PHKG2)
Pan72Malattie da accumulo lisosomiale [incl. mucopolisaccaridosi, mucolipidosi e alfa-mannosidosi] (ARSA, FUCA1, GALC, GBA, GLB1, GNPTAB, GUSB, HEXA, HEXB, MAN2B1, MANBA, NAGA, SMPD1)
Pan118Malattie del metabolismo del surfattante (ABCA3, CSF2RA, CSF2RB, SFTPA1, SFTPB, SFTPC, SFTPD)
Pan172Malattie mitocondriali, geni del DNA nucleare (AARS, AARS2, AASS, ABAT, ABCB7, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, ACO2, AFG3L2, AGK, AIFM1, ALAS2, ALDH1B1, ALDH3A2, AMPD1, APOPT1, APTX, ARX, ASS1, ATP5A1, ATP5E, ATP5G3, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, BOLA3, C12orf65, CA5A, CHAT, CISD2, CLPP, COA5, COA6, COQ2, COQ4, COQ6, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6B1, COX7B, CPT1A, CPT2, CYC1, CYCS, D2HGDH, DARS2, DBT, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNM1L, EARS2, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBP1, FBXL4, FH, FOXRED1, FXN, G6PC, GAMT, GARS, GATM, GCDH, GFER, GFM1, GFM2, GYS2, HADH, HADHA, HADHB, HARS2, HCCS, HIBCH, HLCS, HMGCL, HMGCS2, HSPD1, IARS2, IBA57, IDH2, ISCU, L2HGDH, LARS, LARS2, LIAS, LRPPRC, LYRM4, LYRM7, MARS2, MCCC2, MFN2, MGME1, MICU1, MLYCD, MPC1, MPV17, MRPL3, MRPL44, MRPS16, MRPS22, MTFMT, MTO1, MTPAP, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, OGDH, OPA1, OPA3, OXCT1, PANK2, PC, PCK2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDX1, PINK1, PNKD, PNPT1, POLG, POLG2, PPM1B, PREPL, PUS1, RARS2, REEP1, RMND1, RRM2B, SACS, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHB, SDHC, SDHD, SERAC1, SETX, SFXN4, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC37A4, SLC3A1, SLC52A2, SLC6A8, SOD1, SPG7, SUCLA2, SUCLG1, SUGCT, SUOX, SURF1, TACO1, TARS2, TAZ, TIMM44, TIMM8A, TK2, TMEM126A, TMEM70, TMPO, TPK1, TRAP1, TRMU, TSFM, TTC19, TUFM, TWNK, TYMP, UQCRB, UQCRC2, UQCRQ, VARS2, WFS1, XPNPEP3, YARS, YARS2
Pan134Microangiopatia cerebroretinica con calcificazioni e cisti – sindrome Coats plus – e sua diagnosi differenziale (CTC1, POT1, SNORD118, SLC20A2, PDGFRB, PDGFB)
Pan82Microcefalia (AKT3, AP4M1, ASPM, CASK, CDK5, RAP2, CENPJ, CEP135, CEP152, CEP63, DNM1L, EFTUD2, IER3IP1, KIF11, MCPH1, MRE11A, MSMO1, NDE1, NHEJ1, NR2E1, PAFAH1B1, PCNT, PNKP, POMT1, SLC25A19, STIL, TUBB2B, TUBGCP6, WDR62)
Pan192Microcefalia primaria (MFSD2A, STIL, SASS6, ASPM, KIF14, NCAPH, COPB2, CEP135, WDFY3, CENPE, CDK6, MCPH1, CDK5RAP2, NCAPD3, NCAPD2, PHC1, CIT, ANKLE2, CENPJ, KNL1, CEP152, WDR62, ZNF335)
Pan193Microcefalia sindromica [s. di Seckel, s. di Meier-Gorlin, nanismo microcefalico, lissencefalia e displasia corticale, leucodistrofia ipomielinizzante, s. di Aicardi-Goutières, MVA, s. di Feingold, s. di Cornelia de Lange, s. di Smith-Lemli-Opitz, s. di Rubinstein-Taybi, s. di Coffin-Siris con microcefalia,  s. di Neu-Laxova, s. di Warburg micro,  s. di Galloway-Mowat e altre] (TRAIP, CEP63, ATR, NSMCE2, DNA2, CENPJ, NIN, CEP152, RBBP8, ORC1, ORC4, GMNN, ORC6, CDT1, CDC6, CDC45L, MCM5, PCNT, RNU4ATAC, KIF5C, KIF2A, TUBB2A, TUBB2B, TUBB, TUBB3, TUBG1, TUBA8, RELN, LAMB1, CDK5, TUBA1A, TMTC3, NDE1, KATNB1, MDLS, PAFAH1B1, ARX, DCX, ADAR, IFIH1, TREX1, RNASEH2A, RNASEH2C, RNASEH2B, SAMHD1, EPRS, PYCR2, GJC2, HSPD1, AIMP1, RARS, POLR1C, AIMP2, TMEM106B, FAM126A, POL3A, HIKESHI, VPS11, POLR3B, UFM1, TUBB4A, PLP1, ARCN1, ARFGEF2, BRCA1, CASK, CRIPT, DIAPH1, DONSON, EIF2S3, GEMIN4, IER3IP1, KATNB1, KIF11, LIG4, MASP1, MED17, MEIS2, MRE11A, MSMO1, NDE1, NHEJ1, PCDH12, PLAA, PLEKHG2, PLK4, PNKP, PPP1R15B, PRUNE1, QARS, RTTN, SARS, SLC1A4, SLC25A19, STAMPB, THOC6, TRAPPC6B, TRMT10A, TUBGCP4, TUBGCP6, VARS, XRCC2, XRCC4, TRIP13, CEP57, BUB1B, MYCN, MIR17HG, NIPBL, RAD21, SMC3, SMC1A, HDAC8, DHCR7, CREBBP, EP300, DPF2, SMARCE1, SMARCA4, SMARCB1, SMARCA2, PHGDH, PSAT1, RAB3GAP2, RAB3GAP1, RAB18, TBC1D20, TPRKB, OSGEP, WDR73, TP53RK, LAGE2, ZEB2, VPS13B, UBE3B, TRAPPC12, TELO2, SLC2A1, RECQL3, RBBP8, RAD50, PQBP1, NSDHL, CKAP2L, CENPF, C2CD3, OFD1, ATRX, CCDC88A, DCPS, DDX11, EHMT1, OCLN, USP18, NBN, MECP2, KMT2D, KDM6A, FOXG1, ASNS)
Pan211Miopatia congenita central core e sua diagnosi differenziale (ACTA1, CFL2, MYH7, RYR1, SELENON, TNNT1)
Pan16Miopatia di Bethlem (COL6A1, COL6A2, COL6A3, COL12A1)
Pan87Miopatia miofibrillare, mamipatia di Nonaka, disferlinopatia e miopatia distale di Laing e miopatia da disproporzione congenita (BAG3, CRYAB, DES, DNAJB6, DYSF, FHL1, GNE, FLNC, KY, LDB3, MYH7, MYOT, PYROXD1, SELENON)
Pan88Miopatia nemalinica e altre miopatie congenite (ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2, FHL1, KBTBD13, MAMLD1, MTM1, MTMR14, MYF6, MYH7, MYPN, NEB, RYR1, SELENON, TNNT1, TPM2, TPM3).
Pan56Miopatie da accumulo di glicogeno e lipidi, con o senza rabdomiolisi, intolleranza all’esercizio e altre miopatie metaboliche (ABHD5, ACAD9, ACADM, ACADL, ACADS, ACADVL, AGL, AMACR, AMPD1, ANO5, ATP2A1, CASQ1, CAV3, COA5, COQ2, COQ8A, COQ9, COX6B1, COX10, COX14, CPT1B, CPT2, CTDP1, DMD, DYSF, ENO3, ETFA, ETFB, ETFDH, FASTDK2, FDX2, FKRP, FKTN, FLAD1, GAA, GBE1, GYG1, GYS1, HADH, HADHA, HADHB, ISCU, LAMP2, LDHA, LPIN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PNPLA2, POLG, POLG2, PRKAG2, PUS1, PYGM, RRM2B, RYR1, SCN4A, SIL1, SLC16A1, SLC22A5, SLC25A20, SUCLA2, TACO1, TAZ, TK2, TSFM, TWNK, TYMP, YARS2, DNA mitocondriale)
Pan162Miopatie distali (ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, SQSTM1, TCAP, TIA1, TTN, VCP)
Pan163Miopatie e patologie neuromuscolari, omnicomprensivo (ACTA1, ACVR1, ANO5, ATP2A1, B3GALNT2, BAG3, BIN1, CACNA1S, CAPN3, CASQ1, CAV3, CCDC78, CFL2, CHCHD10, CHKB, CLCN1, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, CPT2, CRYAB, DAG1, DES, DMD, DNA2, DNAJB6, DNM2, DPM1, DPM2, DPM3, DYNC1H1, DYSF, EMD, FHL1, FKBP14, FKRP, FKTN, FLCN, FLNC, GAA, GMPPB, GNE, HACD1, HNRNPA1, HNRNPA2B1, IGHMBP2, ISCU, ISPD, ITGA7, KBTBD13, KCNJ2, KLHL40, KLHL41, KLHL9, LAMA2, LAMP2, LARGE, LDB3, LMNA, LMOD3, MATR3, MEGF10, MSTN, MTM1, MTMR14, MYF6, MYH14, MYH2, MYH7, MYL2, MYOT, MYPN, NEB, OPA1, ORAI1, PABPN1, PLEC, PLEKHG5, POLG, POLG2, POMGNT1 , POMT1, POMT2, PUS1, RRM2B, RYR1, SCN4A, SELENON, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SPEG, SQSTM1, STAC3, STIM1, SUCLA2, SYNE1, TCAP, TIA1, TK2, TMEM5, TNNI2, TNNT1, TNPO3, TPM2, TPM3, TRIM32, TRPV4, TTN, TWNK, UBA1, VCP, VMA21, VRK1, YARS2, mtDNA)
Pan84MODY (ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KLF11, NEUROD1, PAX4, PDX1, RFX6, ZFP57)
Pan102Morbo di Parkinson (SNCA, LRRK2, VPS35, PRKN, PINK1, PARK7, ATP13A2, PLA2G6, FBXO7, DNAJC6)
Pan145Morte improvvisa (ABCC9, ACTN2, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CASQ2, CAV3, CSRP3, DES, DPP6, DSC2, DSG2, DSP, DTNA, FBN1, FGF12, GJA5, GPD1L, CN4, JPH2, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMP2, LDB3, LMNA, LRP6, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, NPPA, NUP155, PKP2, PLN, PRKAG2, RANGRF, RBM20, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SEMA3A, SLMAP, SNTA1, TCAP, TGFB3, TGFBR2, TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, VCL)
Pan225Mucolipidosi (GNPTAB, GNPTG, MCOLN1)
Pan85Mucopolisaccaridosi (ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, IDS, IDUA, NAGLU, SGSH)
Pan89Nefronoftisi (NPHP1, INVS, NPHP3, NPHP4, IQCB1, CEP290, GLIS2, RPGRIP1L, NEK8, SDCCAG8)
Pan101Neurodegenerazione con accumulo cerebrale di ferro [NBIA] (ATP13A2, C19orf12, COASY, CP, CRAT, DCAF17, FA2H, FTL, PANK2, PLA2G6, REPS1, WDR45)
Pan91Neurofibromatosi (NF1, NF2, SPRED1)
Pan219Neuropatia ad assoni giganti e sua diagnosi differenziale (ARSA, ATP7A, EGR2GAN, GDAP1, MTMR2, PLA2G6, SBF1, SBF2, SH3TC2)
Pan198Neuropatia autonomica e sensoriale (ATL1, ATL3, DNMT1, DST, ELP1, KIF1A, NGF, NTRK1, PRDM12, RETREG1, SCN11A, SCN9A, SPTLC1, SPTLC2, WNK1)
Pan27Neuropatia di Charcot-Marie-Tooth (AARS, ABHD12, AIFM1, ARHGEF10, ATP1A1, ATP7A, BAG3, BSCL2, CNTNAP1, COA7, DCTN1, DCTN2, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, NAGLU, NDRG1, NEFH, NEFL, PDK3, PLEKHG5, PMP22, PRPS1, PRX, PTRH2, RAB7A, SBF1, SBF2, SCO2, SETX, SGPL1, SH3TC2, SIGMAR1, SPG11, SPTLC1, TRIM2, TRPV4, VCP, WARS, YARS)
Pan188Neutropenia congenita severa (CSF3R, ELANE, G6PC3, GFI1, HAX1, JAGN1, VPS45, WAS)
Pan141Non compattazione del ventricolo sinistro (ACTC1, ACTN2, CSRP3, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, NNT, PKP2, PLN, RYR2, SGCD, TAZ, TCAP, TNNT2, TPM1)
PanOrphaNuovi geni orfani (EED, RNU12, SELENOI, SLC30A9, TRAK1, WARS, NDUFB8, GRIN1, ATP5F1D, DPF2, GRHL2, OAS1, WEE2, EPHB4, SCO2, ATP1A1, LTBP3, UNC45A, B3GALNT2, SACS, ELMO2, HNRNPK, SCN10A, PDGFRA, MAT1A, NOS2A, EPS15L1, GJA8, KIF20A, SPAG17, MAZ, TRPA1, ARL6IP1, ERGIC1, MEF2C, IQCJ, HOXA11, RYR1, NFIX, SLC25A10, NPPC, PRPS1, SSBP1, CDX2, COQ5, DCC, NTN1, FUZ, TRAF3IP1, LBR, REEP1, TEKT1, AMMECR1, FZD2, NXN, GPC4, RAC3, MED13L, SLC25A1)
Pan152Obesità, sindromica e non-sindromica (ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS9, CEP290, DYRK1B, GNAS, LEP, LEPR, MAGEL2, MC4R, MKKS, MKS1, NR0B2, NTRK2, PCSK1, PHF6, POMC, SDCCAG8, SIM1, TRIM32, TTC8, VPS13B, WDPCP)
Pan95Oftalmoplegia esterna progressiva (ACADS, DNA2, DGUOK, MGME1, OPA1, POLG, POLG2, RNASEH1, RRM2B, RYR1, SLC25A4, TK2, TWNK, VARS2, mtDNA)
Pan63Oloprosencefalia (CDON, FGF8, GLI2, GLI3, PTCH1, SHH, SIX3, TGIF11, ZIC2)
Pan97Osteogenesi imperfetta (ANO5, ALPL, BMP1, COL1A1, COL1A2, COL2A1, CREB3L1, CRTAP, FKBP10, IFITM5, LRP5, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, YY1AP1, WNT1)
Pan98Osteopetrosi (CA2, CLCN7, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFSF11, TNFRSF11A)
Pan100Pancreatite (PRSS1, SPINK1, CFTR, CTRC)
Pan114Paraplegia spastica ereditaria, autosomica dominante/recessiva (ATL1, AP4M1, BSCL2, CYP7B1, FA2H, GJC2, HSPD1, KIAA0196, KIF1A, KIF5A, NIPA1, PNPLA6, REEP1, RTN2, SLC33A1, SPAST, SPG7, SPG11, SPG20, SPG21, ZFYVE26, ZFYVE27)
Pan221Poichilodermia (FAM111B, FERMT1, RECQL4, USB1)
Pan171Polidattilia, escl. Bardet-Biedl e Joubert-Meckel (ACOX1, AKT3, ALX3, BHLHA9, BMP2, BMP4, BMPR1B, BMS1, SMG9, C2CD3, C5orf42, C8orf37, CCND2, CD96, CDC45, CDCA7, CDKN1C, CDON, CENPF, CEP120, CEP164, CHD4, CKAP2L, COG6, COL2A1, CRB2, CREBBP, DDX59, DHCR7, DLL3, DYNC2H1, DYNC2LI1, EBP, EFTUD2, EVC, EVC2, FBLN1, FGF10, FGF16, FGFR2, FGFR3, FLNA, FRAS1,GDF5, GDF6, GJA1, GLI2,  GLI3, GPC3, H19, HNRNPK, HOXA11, HOXA13,  HOXD13, HYLS1, IFT122, IFT140,IFT172,IFT43, IFT52, IFT80, IHH, KAT6B, KCNH1, KCNQ1OT1, KIAA0586, KIAA0753, KIF7, LBR, LMBR1, LRP4, MBTPS2, MEGF8, MEOX1, MKKS, NEK1, NOG, NPHP3, OFD1, OTC, PAPSS2, PHF8, PIK3CA, PIK3R2, PITX1, PORCN, PROM1, PTCH1, PTHLH, PUF60, RAB23, RBBP8, RBM10, BLM, RNU4ATAC, ROR2, SALL1, SALL4, SC5D, SEC61A1, SETBP1, SHH, SIX3, SLC26A2, SMOC1, SMO, SOX9, TBX1, TBX22, TBX3, TBX5, TCTN3, TFAP2A, TFAP2B, TGFBR1, TGFBR2, TGIF1, TP63, TRAF3IP1, TRPV4, TTC21B, TWIST1, UBE2T, UBE3B, UQCC2, USP9X, WDPCP, WDR19, WDR34, WDR35, WDR60, WNT10B, WNT7A, MAP3K20, ZIC2, ZNF141, ZSWIM6)
Pan236Porencefalia e schizencefalia (COL4A1, COL4A2, EMX2, SHH, SIX3)
Pan216Porfiria (ALAD, ALAS2, CPOX, FECH, HFE, HMBS, PPOX, UROD, UROS)
Pan155Pseudoipoaldosteronismo (CUL3, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4)
Pan240Pseudoxanthoma elasticum (ABCC6, ENNP1, GGCX )
Pan132Rachistismo ipofostatemico (PHEX, CLCN5, FGF23, DMP1, ENPP1, SLC34A3)
Pan105Rene policistico e sua diagnosi differenziale, classico (HNF1B, LRP5, PAX2, PKD1, PKD2, PKHD1, PRKCSH, SEC63, UMOD, VHL)
Pan143Rene policistico e sua diagnosi differenziale, esteso (GANAB, HNF1B, LRP5, PAX2, PKD1, PKD2, PKHD1, PRKCSH, SEC63, TSC1, TSC2, UMOD, VHL)
Pan142Retinite pigmentosa, classico (ABCA4, AIPL1, ARL6, BBS2, BEST1, C2ORF71, C8ORF37, CA4, CDHR1, CERKL, CLRN1, CNGA1, CNGB1, CRB1, CRX, CYP4V2, DHDDS, EYS, FAM161A, FSCN2, GUCA1B, HGSNAT, IDH3B, IMPDH1, IMPG2, IFT172, KIZ, KLHL7, LRAT, MAK, MERTK, NEK2, NR2E3, NRL, OFD1, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF8, PRPH2, RBP3, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A, ZNF513)
Pan109Retinite pigmentosa, esteso (ABCA4, AGBL5, AIPL1, ARL3, ARL6, BBS2, BEST1, C2ORF71, C8ORF37, CA4, CDHR1, CERKL, CLRN1, CNGA1, CNGB1, CRB1, CRX, CYP4V2, DHDDS, EYS, FAM161A, FSCN2, GUCA1B, HGSNAT, IDH3B, IMPDH1, IMPG2, IFT172, KIZ, KLHL7, LRAT, MAK, MERTK, NEK2, NR2E3, NRL, OFD1, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RDH12, REEP6, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SLC7A14, SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A, ZNF408, ZNF513)
Pan79Ritardo mentale, X-linked (ABCD1, ACSL4, AFF2, AGTR2, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCOR, BRWD3, CASK, CDKL5, CUL4B, DCX, DKC1, DLG3, ELK1, FANCB, FGD1, FLNA, FMR1, FTSJ1, GDI1, GK, GPC3, GRIA3, HCCS, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, KIAA2022, KDM5C, L1CAM, LAMP2, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1, MTM1, NDP, NDUFA1, NHS, NLGN3, NLGN4X, NSDHL, NXF5, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1, RAB39B, RPL10, RPS6KA3, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TIMM8A, TSPAN7, UBE2A, UPF3B, ZCCHC12, ZDHHC9, ZDHHC15, ZNF41, ZNF81, ZNF674, ZNF711)
Pan121Scelrosi tuberosa (TSC1, TSC2) – EXOME PANEL/Ultra-deep sequencing/SNaPshot
Pan6Sclerosi laterale amiotrofica (ALS2, ANG, ATXN2, C9orf72, CHMP2B, CHGB, DCTN1, FIG4, FUS, NEFH, OPTN, PFN1, PRPH2, SETX, SIGMAR1, SOD1, SPG20, TARDBP, UBQLN2, VAPB, VCP, VEGFA)
Pan199Sequenza acinesia fetale e sindrome degli pterigi multipli [incl. sindrome di Escobar] (CHRNA1, CHRND, CHRNG, CNTN1, DOK7, RAPSN, and SYNE1)
Pan115Sferocitosi ereditaria (ANK1, EPB42, SLC4A1, SPTA1, SPTB)
Pan24Sindrome da ipoventilazione centrale (RET, GDNF, EDN3, BDNF, ASCL1, PHOX2A, PHOX2B, ZEB2, GFRA1, ECE1, MECP2)
Pan175Sindrome del nevo basocellulare [sindrome di Gorlin o Gorlin-Goltz] (PTCH1, PTCH2, SUFU)
Pan71Sindrome del QT lungo (AKAP9, ANK2, CACNA1C, CALM1, CALM2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1)
Pan103Sindrome della febbre periodica (ELANE, LPIN2, MEFV, MVK, NLRP3, PSTPIP1, TNFRSF1A)
Pan154Sindrome di Adams-Oliver (ARHGAP31, DOCK6, DLL4, EOGT, NOTCH1, RBPJ)
Pan2Sindrome di Aicardi-Goutières (ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1)
Pan133Sindrome di Allan-Herndon-Dudley e sua diagnosi differenziale (ABCD1, ASPA, ARSA, GALC, MECP2, PLP1, SLC16A2, SMS)
Pan4Sindrome di Alport, di Epstein e di Fechtner (COL4A3, COL4A4, COL4A5, MYH9)
Pan200Sindrome di Baller-Gerold e sua diagnosi differenziale (ESCO2, RECQL4, SALL4, TBX5, TWIST)
Pan14Sindrome di Bardet-Biedl (ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CCDC28B, CEP290, IFT27, IFT74, LZTFL1, MKKS, MKS1, MKS3, SDCCAG8, TRIM32, TTC8, WDPCP)
Pan15Sindrome di Bartter (BSND, CASR, CLCNKA, CLCNKB, KCNJ1, SLC12A1, SLC12A3)
Pan201Sindrome di Bohring-Opitz e sua diagnosi differenziale (ASXL1, ASXL2, ASXL3, CD96, HDAC8, KLHL7, NIPBL, RAD21, SMC1A, SMC3)
Pan18Sindrome di Brugada (CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, SCN1B,SCN3B, SCN5A)
Pan202Sindrome di Burn-McKeown e sindrome di Treacher-Collins (POLR1C, POLR1D, TCOF1, TXNL4A)
Pan19Sindrome di Cantú, di Berardinelli-Seip e loro diagnosi differenziale [incl. mucopolisaccaridosi I, II, IVA, mucolipidosi III, alpha-mannosidosi e sindrome di Beckwith-Wiedemann] (ABCC9, KCNJ8, AGPAT2, BSCL2, CDKN1C, IDUA, IDS, GALNS, GNPTAB, GNPTG, MAN2B1).
Pan213Sindrome di Coffin-Lowry e sua diagnosi differenziale (ATRX, ELN, MED12, PHF6, RPS6KA3, TCF4)
Pan30Sindrome di Coffin-Siris (ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1)
Pan35Sindrome di Cornelia de Lange (HDAC8, NIPBL, RAD21, SMC1A, SMC3)
Pan40Sindrome di Dravet (SCN1A, GABRG2, SCN2A, SCN9A)
Pan43Sindrome di Ehlers-Danlos, sindrome di Marfan, aneurisma aortico familiare e arterial tortuosity syndrome (ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, PLOD1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB)
Pan217Sindrome di Floating-Harbor  e sua diagnosi differenziale (CCDC8 , CREBBP, CUL7, EP300, OBSL1, SRCAP)
Pan206Sindrome di Griscelli e malattia da sovraccarico di acido sialico infantile (MLPH, MYO5A, RAB27A, SLC17A5)
Pan77Sindrome di Joubert & Meckel-Gruber, classico (AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, INPP5E, KIF7, MKS1, NPHP1, NPHP3, OFD1, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423)
Pan136Sindrome di Joubert & Meckel-Gruber, esteso (AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP104, CEP290, CEP41, CSPP1, INPP5E, KIAA0556, KIAA0586, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TT
Pan65Sindrome di Kallmann e altre forme di ipogonadismo ipogonadotropo con o senza anosmia (CHD7, DUSP6, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, GNRH1, GNRHR, HS6ST1, IL17RD, KAL1, KISS1, KISS1R, LHB, NSMF, PROK2, PROKR2, SEMA3A, SPRY4, TAC3, TACR3, WDR11)
Pan67Sindrome di Leigh/NARP e loro diagnosi differenziale (ADAR1, BCS1L, BTD, C12orf65, C20ORF7, C8ORF38, COX10, COX15, DLD, EARS2, ETHE1, FARS2, FOXRED1, GFM1, HIBCH, HLCS, LIAS, LIPT1, LRPPRC , MCEE, MMAA, MMAB, MMADHC,  MT-ATP6, MT-CO3, MTFMT, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, MT-TK, MT-TV, MT-TW, MUT , NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NUP62, PANK2, PCCA , PCCB, PDHA1, PDHB, PDHX, PDSS2, PET100, POLG, RANBP2, SCO2, SDHA, SERAC1, SLC19A3, SLC25A19, SUCLA2, SUCLG1, SURF1, TACO1, TTC19, UQCRQ).
Pan76Sindrome di Marfan e malattie correlate (ACTA2, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1, TGFBR2)
Pan194Sindrome di Meier-Gorlin e nanismo primordiale microcefalico (ORC1, ORC4, GMNN, ORC6, CDT1, CDC6, CDC45L, MCM5, PCNT, RNU4ATAC)
Pan207Sindrome di Moebius (PLXND1, ​REV3L)
Pan93Sindrome di Noonan, LEOPARD, Costello e CFC, classico (BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, SHOC2, SOS1, SPRED1)
Pan140Sindrome di Noonan, LEOPARD, Costello e CFC, esteso (A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS2, SHOC2, SOS1, SOS2, SPRED1)
Pan235Sindrome di Perrault (CLPP, ERAL1, HARS2, HSD17B4, LARS2,  TWNK)
Pan131Sindrome di Rett e simil-Rett (MECP2, FOXG1, CDKL5, MEF2C, TCF4, GABRD, WDR45, SMC1A)
Pan112Sindrome di Seckel (ATR, RBBP8, CENPJ, CEP152, CEP63)
Pan196Sindrome di Smith-Lemli-Opitz e sua diagnosi differenziale, incl. s. di Meckel-Gruber, s. di Noonan, s. di Simpson-Golabi-Behmel e s. di Pallister-Hall (AHI1, ARL13B, B9D1, B9D2, BRAF,C5orf42, CBL, CC2D2A, CEP104, CEP290, CEP41, CSPP1, DHCR7, GLI3, GPC3, GPC4, HRAS, INPP5E, KIAA0556, KIAA0586, KIF7, KIF14, KRAS, LZTR1, MAP2K1, MAP2K2, MKS1, NF1, NPHP1, NPHP3, NRAS, OFD1, PDE6D, PTPN11, RAF1, RIT1, RPGRIP1L, SHOC2, SOS1, SOS2, SPRED1, TCTN1, TCTN2, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423)
Pan117Sindrome di Stickler (COL2A1, COL9A1, COL9A2, COL11A1, COL11A2)
Pan124Sindrome di Usher tipo I, II, III e sua diagnosi differenziale (ADGRV1, CDH23, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, RPGR, TIMM8A, USH1C, USH1G, USH2A, WHRN)
Pan126Sindrome di Waardenburg (EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR)
Pan127Sindrome di Walker-Warburg (FKRP, FKTN, ISPD, LARGE, POMT1, POMT2)
Pan168Sindrome di Weill-Marchesani e Weill-Marchesani-like (ADAMTS10, ADAMTS17, FBN1, LTBP2)
Pan128Sindrome di Zellweger (PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26)
Pan90Sindrome nefrotica/glomerulosclerosi segmentale focale (LAMB2, NPHS1, NPHS2, PLCE1, WT1, ACTN4, CD2AP, INF2, TRPC6)
Pan110Sindrome RIDDLE e altre radiosensibilità con immunodeficienza [incl. sindrome da rottura cromosomica tipo Nijmegen, atassia-teleangectasia, immunodeficienza severa combinata con Cernunnos, immunodeficienza severa combinata tipo Athabascan, immunodeficienza 26, sindrome LIG4 e agammaglobulinemia X-linked] (RNF168, NBN, ATM, NHEJ1, DCLRE1C, PRKDC, LIG4, BTK).
Pan203Sindromi branchiootiche e branchiootorenali (EYA1, SIX1, SIX5)
Pan165Sindromi da deplezione del DNA mitocondriale (AGK, DGUOK, FBXL4, MGME1, MPV17, OPA1, POLG, RRM2B, SLC25A4, SUCLA2, SUCLG1, TFAM, TK2, TWNK).
Pan156Sindromi da iperaccrescimento (AKT1, AKT3, APC2, CCND2, CDKN1C, DIS3L2, DNMT3A, EED, EZH2, GNAQ, GPC3, HIST1H1E, MTOR, NFIX, NSD1, OFD1, PDGFRB, PIK3CA, PIK3R2, RNF125, TCF20)
Pan34Sindromi miasteniche congenite (AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, GFPT1, LAMB2, MUSK, PLEC, RAPSN, SCN4A)
Pan222Sindromi progeroidi (ANTXR1, ATP6V0A2, ATP6V1A, ATP6V1E1, B3GALT6, BANF1, ERCC1, ERCC2, ERCC4, ERCC8, FBN1, GH1, IGF1R,  KCNJ6, LMNA, PDGFRB, PIK3R1, POLD1, PSMB8, PYCR1, SLC25A24, SPRTN,  TOP3A, ZMPSTE24)
Pan36Sordità neurosensoriale congenita non-sindromica autosomica dominante/recessiva/X-linked/mitocondriale, classico (ACTG1, AIFM1, BSND, CABP2, CCDC50, CEACAM16, CIB2, CLPP, COCH, COL11A2, COL4A6, CRYM, CDH23, CLDN14, DCDC2, DFNA5, DIABLO, DIAPH1, DIAPH3, DSPP, ESPN, ESRRB, EYA4, FAM189A2, FOXI1, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, GRHL2, GRIN2A, HGF, HOMER2, ILDR1, KARS, KCNJ10, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MET, MIR96, MSRB3, MYH14, MYH9, MYO1A, MYO15A, MYO3A, MYO6, MYO7A, NLRP3, OTOA, OTOF, OTOG, P2RX2, PCDH15, PNPT1, POU3F4, POU4F3, PRPS1, PTPRQ, RAI1, RDX, SERPINB6, SIX1, SLC17A8, SMPX, SLC26A4, SLC26A5, STRC, TBC1D24, TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, WFS1, mtDNA)
Pan138Sordità neurosensoriale congenita non-sindromica autosomica dominante/recessiva/X-linked/mitocondriale, esteso (ACTG1, ADCY1, AIFM1, BSND, CABP2, CCDC50, CD164, CDC14A, CEACAM16, CIB2, CLIC5, CLPP, COCH, COL11A2, COL4A6, CRYM, CDH23, CLDN14, DCDC2, DFNA5, DIABLO, DIAPH1, DIAPH3, DMXL2, DSPP, ELMOD3, EPS8, ESPN, ESRRB, EYA4, FAM189A2, FAM65B, FOXI1, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, GRXCR2, GRHL2, GRIN2A, HGF, HOMER2, ILDR1, KARS, KCNJ10, KCNQ4, KITLG, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MCM2, MET, MIR96, MSRB3, MYH14, MYH9, MYO1A, MYO15A, MYO3A, MYO6, MYO7A, NLRP3, OSBPL2, OTOA, OTOF, OTOG, P2RX2, PCDH15, PJVK, PNPT1, POU3F4, POU4F3, PRPS1, PTPRQ, RAI1, RDX, S1PR2, SERPINB6, SIX1, SLC17A8, SMPX, SLC26A4, SLC26A5, STRC, TBC1D24, SYNE4, TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TMTC2, TNC, TPRN, TRIOBP, TSPEAR, USH1C, WFS1, WHRN, mtDNA)
Pan23Tachicardia ventricolare polimorfica catecolaminergica (RYR2, CASQ2, KCNJ2)
Pan224Tricotiodistrofia (ERCC2, ERCC3, GTF2E2, GTF2H5, MPLKIP, RNF113A)
Pan119Trombocitopenia (ADAMTS13, GATA1, GP1BA, GP1BB, GP9, ITGA2B, ITGB3, MASTL, MYH9, MPL, RUNX1, WAS)
Pan180Trombofilia (F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FGA, FGB, FGG, GP1BA, HRG, KLKB1, KNG1, LMAN1, MCFD2, MTHFR, PLAT, PROC, PROS1, PROZ, SERPINC1, SERPIND1, SERPINE1, SERPINF2, THBD, VKORC1, VWF)
Pan113Tumori della pelle (CDKN2A, EPCAM, MC1R, MITF, MLH1, MSH2, MSH6, PMS1, PMS2, PTCH1, XRCC3)
Pan125Vitreoretinopatia e sindrome di Wagner (COL2A1, FZD4, LRP5, NDP, TSPAN12, VCAN)
Pan212Xantomatosi cerebrotendinea e sua diagnosi differenziale (ABCG5, ABCG8, APOB, APOE, CYP27A1, LDLR, LDLRAP1, LPL, PCSK9)
Pan223Xeroderma pigmentoso e sua diagnosi differenziale (DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, GTF2E2, GTF2H5, MPLKIP, POLH, RECQL4 , SLC6A19, UVSSA, XPA, XPC)