Lista dei Pannelli

Pannelli selezionabili presso Breda Genetics. Reperti incidentali: su richiesta.

>>> Versione della lista: 9.9.5 – aggiornata al: 10 marzo 2021 <<<

Code Panel
Pan4 Sindrome di Alport, di Epstein e di Fechtner (COL4A3, COL4A4, COL4A5, MYH9)
Pan5 Malattia di Alzheimer e altre demenze (APOE, APP, C9orf72, CHMP2B, CSF1R, FUS, GRN, IL1RAP, MAPT, NOTCH2NLC, PRNP, PSEN1, PSEN2, SIGMAR1, SORL1, TARDBP, TREM2, UBE3A, UBQLN2, VCP)
Pan6 Sclerosi laterale amiotrofica (ALS2, ANG, ATXN2, C9orf72, CHMP2B, CHGB, DCTN1, FIG4, FUS, GLT8D1, NEFH, OPTN, PFN1, PRPH2, SETX, SIGMAR1, SOD1, SPG20, TARDBP, UBQLN2, VAPB, VCP, VEGFA)
Pan7 Anoftalmia/microftalmia, isolata/sindromica (ABCB6, ALDH1A3, ALX1, BCOR, BMP4, CAPN15, COX14, COA5, CHD7, COX6B1, CRYAA, CRYBA4, CRYBB2, CRYGD, DPYD, DYRK1A, ERCC6, ESCO2, EYA1, FASTKD2, FOXE3, FOXL2, FRAS1, FREM1, FREM2, GDF3, GDF6, GJA1, GLI3, HCCS, HDAC6, HESX1, HMGB3, HMX1, IKBKG, ISPD, KERA, KIF11, MAB21L2, MAF, MBTPS2, MFRP, MYRF, NAA10, NDP, NHS, OCLN, OTX2, PAX2, PAX6, PHGDH, PITX3, POMT1, PORCN, PQBP1, PRR12, PRSS56, PUF60, RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, RBP4, RIPK4, SALL2, SALL4, SHH, SIX3, SIX6, SLC36A2, SLC6A19, SLC6A20, SMAD4, SMCHD1, SMOC1, SOX2, STRA6, TBC1D20, TBX1, TENM3, TFAP2A, TGFB2, VAX1, VCAN, VSX1, VSX2, WDR73, ZBTB20, ZIC2)
Pan8 Aneurisma aortico familiare toracico (ACTA2, COL3A1, FBN1, FBN2, FOXE3, LOX, LTBP3, MFAP5, MYH11, MYLK, PRKG1, SLC2A10, SMAD3, SMAD4, TGFBR1, TGFBR2, TGFB2, THSD4)
Pan9 Aritmie ereditarie (AKAP9, ANK2, CACNA1C, CACNB2, CASQ2, CAP2, CAV3, CTNNA3, DSC2, DSG2, DSP, GPD1L, JUP, KCNA5, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KLHL24, NPPA, PKP2, PLN, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SHOX2, SNTA1, TGFB3, TMEM43)
Pan10 Cardiomiopatia aritmogenica del ventricolo destro (DSP, DSG2, DSC2, JUP, PKP2, RYR2, TGFB3, TMEM43)
Pan11 Artrogriposi distale e altre contratture degli arti (ADCY6, BEST3, ECEL1, ERGIC1, FBN1, FBN2, MYBPC1, NALCN, MYH3, MYH8, PIEZO2, TNNI2, TNNT3, TPM2, VIPAS39)
Pan12 Ashkenazi – patologie frequenti (GBA, CFTR, HEXA, IKBKAP, ASPA, G6PC, ABCC8, MCOLN1, BCKDHB, FANCC, DLD, SMPD1, CLRN1, PCDH15, BLM, NEB, BRCA1, BRCA2)
Pan13 Disturbi dello spettro autistico (ADNP, ANKRD11, AFF2, ALDH5A1, ALDH7A1, AP1S2, ARID1B, ARX, ATRX, AVPR1A, BDNF, BRAF, BRSK2, CACNA1C, CASK, CDKL5, CHAMP1, CHD2 CHD7, CHD8, CNTNAP2, CNTNAP5, CREBBP, DHCR7, DLGAP2, DLST, 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, NLGN1, 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, TRRAP, TSC1, TSC2, UBE3A, UPF3B VPS13B, ZEB2, ZNF507, ZNF804A, ZNHIT6)
Pan14 Sindrome di Bardet-Biedl (ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CCDC28B, CEP290, IFT27, IFT74, IFT172, LZTFL1, MKKS, MKS1, MKS3, SDCCAG8, TRIM32, TTC8, WDPCP)
Pan15 Sindrome di Bartter (BSND, CASR, CLCNKA, CLCNKB, KCNJ1, SLC12A1, SLC12A3)
Pan16 Miopatia di Bethlem (COL6A1, COL6A2, COL6A3, COL12A1)
Pan17 Cancro ereditario della mammella e dell’ovaio (ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, MRE11A, NBN, PALB2, RAD50, RAD51C, RAD51D, PTEN, STK11, TP53)
Pan18 Sindrome di Brugada (CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, TRPM4, SCN1B, SCN3B, SCN5A)
Pan19
Pan20 Cardiomiopatia dilatativa (ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CAP2, CSRP3, CRYAB, DES, DMD, DSG2, EYA4, FKTN, GATAD1, HAND1, HAND2, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, PPP1R13L, PRDM16, PSEN1, PSEN2, RBM20, SCN5A, SDHA, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL)
Pan21 Cardiomiopatia ipertrofica (ACTC1, ACTN2, CALR3, CAV3, CSRP3, FLNC, GLA, JPH2, KLHL24, LAMP2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PLN, PRKAG2, PTPN11, SLC25A4, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL)
Pan22 Cataratta, isolata, classico (AGK, BFSP1, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA1 , CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, DNMBP, EPHA2, FYCO1, GCNT2, GJA3, GJA8 , HSF4, LEMD2, LIM2, LSS , MAF, MIP, NHS , PITX3 , SIPA1L3, TDRD7, UNC45B, VIM, WFS1)
Pan23 Tachicardia ventricolare polimorfica catecolaminergica (RYR2, CASQ2, KCNJ2)
Pan24 Sindrome da ipoventilazione centrale (RET, GDNF, EDN3, BDNF, ASCL1, PHOX2A, PHOX2B, ZEB2, GFRA1, ECE1, MECP2, LBX1)
Pan25 Atassia cerebellare (ADCK3, APTX, COQ2, COQ9, DNMT1, FXN, PDSS1, PDSS2, POLG, RNU12, SACS, SETX, SYNE1, TTPA, VLDLR)
Pan26 Lipofuscinosi ceroide neuronale (ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1)
Pan27 Neuropatia di Charcot-Marie-Tooth (AARS, ABHD12, AIFM1, ARHGEF10, ATP1A1, ATP7A, BAG3, BSCL2, C1orf194, CNTNAP1, COA7, COX6A1, DCTN1, DCTN2, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GBF1, GDAP1, GJB1, GNB4, HARS, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, JPH1, KARS, 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, REEP1, SACS, SBF1, SBF2, SCO2, SETX, SGPL1, SH3TC2, SIGMAR1, SORD, SPG11, SPTLC1, SPTAN1, TRIM2, TRPV4, VCP, VWA1, WARS, YARS)
Pan28 Discinesia ciliare primaria (ARMC4, C21ORF59, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, DNAAF1, DNAAF3, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DYX1C1, GAS2L2, GAS8, HEATR2, HYDIN, KTU, LRRC6, MNS1, NME5, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, TTC25, TXNDC3, ZMYND10)
Pan30 Sindrome di Coffin-Siris (ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX4, SOX11)
Pan31 Cancro gastrico e del colon, con o senza poliposi (APC, BMPR1A, CDH1, MLH1, MLH3, MSH2, MSH6, MUTYH, NTHL1, PMS1, PMS2, PTEN, SMAD4, STK11, EPCAM)
Pan32 Distrofia dei coni/bastoncelli (ABCA4, ADAM9, AIPL1, BEST1, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, CRX, DRAM2, GUCA1A, GUCY2D, KCNV2, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, TTLL5, UNC119)
Pan33 Ittiosi congenita (ABCA12, ABHD5, ALOX12B, ALOXE3, CASP14, CERS3, CYP4F22, FATP4, LIPN, NIPAL4, PNPLA1, SREBF1, SDR9C7, ST14, SULT2B1, TGM1)
Pan34 Sindromi miasteniche congenite (AGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, LAMB2, LRP4, MUSK, PLEC, PREPL, RAPSN, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2)
Pan35 Sindrome di Cornelia de Lange (ANKRD11, EP300, HDAC8, NIPBL, RAD21, SMC1A, SMC3, MAU2)
Pan36
Pan37 Glomerulonefrite 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.)
Pan38 Diabete neonatale (ABCC8, EIF2B1, FOXP3, G6PC2, GCK, GLIS3, INS, INSR, KCNJ11, NEUROG3, PDX1)
Pan39 Anemia di Diamond-Blackfan (GATA1, RPL11, RPL35A, RPL5, RPL15, RPL26, RPL27, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2)
Pan40 Sindrome di Dravet (SCN1A, GABRG2, SCN2A, SCN9A)
Pan41 Distonia (GCH1, PNKD, PRRT2, SGCE, SLC2A1, SPR, TH, THAP1, TOR1A, VPS13A, mitochondrial DNA)
Pan42 Encefalopatia epilettica infantile precoce (AARS, ACTL6B, ALG13, AP2M1, AP3B2, ARHGEF9, ARV1, ARX, CACNA1A, CACNA1E, CAD, CDKL5, COQ5, CSNK1E, DENND5A, DNM1, DOCK7, EEF1A2, FGF12, FRRS1L, GABRA1, GABRB1, GABRB3, GAD1, GOT2, GNAO1, GRIN2B, GRIN2D, GUF1, HCN1, HNRNPU, ITPA, KCNA2, KCNB1, KCNQ2, KCNT1, MDH2, MYRF, NECAP1, NEUROD2, NSF, PCDH19, PHACTR1, PIGA, PIGB, PIGP, PLCB1, PNKP, PRICKLE1, PTPN23, RNF13, SCN1A, SCN1B, SCN2A, SCN8A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A10, SLC25A12, SLC25A22, SLC35A2, SPTAN1, ST3GAL3, STXBP1, SYNJ1, SZT2, TBC1D24, THG1L, TRAPPC2L, TRAK1, TRIM8, TRPM3, UBA5, WWOX)
Pan43 Sindrome di Ehlers-Danlos, sindrome di Marfan, aneurisma aortico familiare e arterial tortuosity syndrome (ACTA2, CBS, COL3A1, COL5A1, COL5A2, DLG4, EFEMP1, EMILIN1, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, PLOD1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB)
Pan44 Epidermolisi bullosa (COL7A1, COL17A1, EXPH5, KLHL24, ITGA6, ITGB4, KRT5, KRT14, LAMA3, LAMB3, LAMC2, PLEC, CD151, CDSN, CHST8, CSTA, DSG1, DSG2, DSG4, DSP, DST, FERMT1, GRIP1, ITGA3 , MMP1, NID1, PKP1, TGM5)
Pan45 Epilessia ereditaria (CACNA1H, CACNB4, CHRNA2, CHRNA4, CHRNB2, CLCN2, CSNK2B, CPA6, EFHC1, GABRA1, GABRB3, GABRD, GABRG2, JRK, KCNMA1, KCNQ2, KCNQ3, KCNT1, LGI1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SRPX2)
Pan46 Encefalopatia epilettica (ACTL6B, ACY1, ADSL, ALDH7A1, AMT, ARHGEF9, ARX, CDKL5, CNTNAP2, CPT2, CSNK1E, FOLR1, FOXG1, GABRG2, GAMT, GCSH, GLDC, GRIN2A, GRIN2B, KCNJ10, KCNQ2, MAGI2, MAPK10, MECP2, MTHFR, NRXN1, PCDH19, PLCB1, PNKP, PNPO, PRRT2, PTPN23, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC25A22, SLC2A1, SLC9A6, SPTAN1, STXBP1, TBCE, TCF4, THG1L, TREX1, TRIM8, TRPM3, UBE3A, ZEB2)
Pan47
Pan48 Emicrania 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)
Pan49 Ipercolesterolemia familiare e altri difetti del metabolismo lipoproteico (APOB, LDLR, PCSK9, APOE, LRP6, ABCG5, ABCG8)
Pan50 Anemia di Fanconi (BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MAD2L2, PALB2, RAD51, RAD51C, RFWD3, SLX4, UBE2T, XRCC2)
Pan51
Pan52
Pan53 Glomerulosclerosi 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, TBC1D8B, TRPC6, WT1)
Pan54 Demenza frontotemporale (CHMP2B, GRN, VCP, FUS, TARDBP, C9orf72 , MAPT, SIGMAR1, UBQLN2)
Pan55 Malattie 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)
Pan56 Miopatie 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, mitochondrial DNA)
Pan57 Difetti della glicosilazione (ALG1, ALG2, ALG3, ALG6, ALG8, ALG9, ALG11, ALG12, ALG13, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DOLK, DPAGT1, DPM1, DPM3, GALNT2, MAGT1, MGAT2, MOGS, MPDU1, MPI, PMM2, RFT1, SLC35A1, SLC35C1)
Pan58 Linfoistiocitosi emofagocitica primaria e sua diagnosi differenziale (PRF1, UNC13D, STX11, STXBP2, RAB27A, XIAP, SH2D1A, LYST)
Pan59 Difetti 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.)
Pan60 Eterotassia viscerale, tetralogia di Fallot, associazione VATER & VACTERL(ACVR2B, CFC1, CRELD1, GJA1, GDF1, FOXH1, LEFTY2, MMP21, NKX2-5, NODAL, ZIC3)
Pan61
Pan62 Difetti della modificazione degli istoni e loro diagnosi differenziale [incl. sindrome di Wiedemann-Steiner, Kabuki, Coffin-Siris, Nicolaides-Baraitser e Cornelia de Lange] (ANKRD11, ARID1A, ARID1B, EP300, HDAC8, HNRNPK, NIPBL, KMT2A, KMT2D, KDM6A, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, RAD21)
Pan63 Oloprosencefalia (CDON, FGF8, GLI2, GLI3, PTCH1, SHH, SIX3, TGIF1, ZIC2)
Pan64 Iperecplessia (ARHGEF9, GLRA1, GLRB, GPHN, SLC6A5)
Pan65 Sindrome di Kallmann e altre forme di ipogonadismo ipogonadotropo con o senza anosmia (ANOS1, CHD7, DCC, DUSP6, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FMR1, FSHB, GNRH1, GNRHR, HS6ST1, IL17RD, KISS1, KISS1R, LHB, NDNF, NELF, NTN1, PROK2, PROKR2, SEMA3A, SPRY4, TAC3, TACR3, WDR11)
Pan66 Amaurosi congenita di Leber (AIPL1, CABP4, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13 , LCA5, LRAT, NMNAT1, OTX2, PRPH2, RD3, RDH12, RIMS2, RPE65, RPGRIP1, SPATA7, TULP1)
Pan67
Pan68 Leucodistrofia (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, DGES1, 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, RHOA, 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)
Pan69 Distrofia muscolare dei cingoli (ANO5, CAPN3, CAV3, DAG1, DNAJB6, DYSF, FKRP, FKTN, LAMA2, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, POPDC3, SELENON, SGCA, SGCB, SGCD, SGCG, TCAP, TRAPPC11, TRIM32, TTN)
Pan70 Lissencefalia (APC2, ARX, CDK5, DCX, KATNB1, NDE1, KATNB1, KIF2A, KIF5C, LAMB1, MACF1, PAFAH1B1, POMT1, POMT2, RELN, TMTC3, TUBA1A, TUBB2A, TUBB2B, TUBB, TUBB3, TUBG1, TUBA8)
Pan71 Sindrome del QT lungo (AKAP9, ANK2, CACNA1C, CALM1, CALM2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SCN10A, SNTA1)
Pan72 Malattie lisosomiali(ABCC8, ACY1, ADAMTSL2, ADSL, AGA, ALDH5A1, ALDH7A1, AMT, ANTXR2, ARG1, ARSA, ARSB, ASAH1, ASPA, ATP13A2, BTD, CLN3, CLN5, CLN6, CLN8, COL11A2, COL2A1, CTNS, CTSA, CTSC, CTSD, CTSK, DHCR7, DPYD, DYM, ETFA, ETFB, ETFDH, FH, FOLR1, FUCA1, GAA, GALC, GALNS, GAMT, GBA, GCDH, GLA, GLB1, GLDC, GM2A, GNE, GNPTAB, GNPTG, GNS, GPC3, GUSB, HEXA, HEXB, HGSNAT, HRAS, HYAL1, IDS, IDUA, L2HGDH, LAMA2, LAMP2, LDB3, LIPA, MAN1B1, MAN2B1, MANBA, MCOLN1, MFSD8, MOCS1, MOCS2, MYOT, NAGA, NAGLU, NEU1, NPC1, NPC2, PEX1, PEX10, PEX12, PEX13, PEX16, PEX26, PEX3, PEX5, PEX6, PGK1, PHYH, PPT1, PRODH, PSAP, QDPR, RAI1, SGSH, SLC17A5, SLC25A15, SLC46A1, SMPD1, SUMF1, SUOX, TCF4, TPP1 )
Pan73 Infertilità maschile (AK7, AR, ARMC2, AURKC, AZF, BRDT, C14ORF39, CATSPER1, CATSPER2, CEP112, CFAP43, CFAP44, CFAP58, CFAP58, CFAP65, CFAP69, CFAP70, CFAP91, CFTR, DEFB126, DEFB128, DNAH1, DNAH17, DNAH2, DNAH8, DPY19L2, DZIP1, FANCM, FSHR, FSIP2, HSF2, KLHL10, LHCGR, M1AP, MAATS1, MEIOB, MSH4, MSH5, NANOS1, NR5A1, PICK1, PLCZ1, PLK4, PMFBP1, PPP2R3C, QRICH2, SEPT12, SLC26A8, SOHLH1, SPAG17, SPATA16, SPEF2, SPINK2, STX2, SUN5, SYCE1, SYCP2, SYCP3, TAF4B, TDRD9, TEX11, TEX14, TEX15, TSGA10, TTC21A, TTC29, TTC29, USP9Y, WDR66, XRCC2, ZMYND15)
Pan74 Ipertermia maligna (CACNA1S, TRPV1, RYR1)
Pan75 Malattia delle urine a sciroppo d’acero (BCKDHA, BCKDHB, DBT, DLD)
Pan76 Sindrome di Marfan e malattie correlate (ACTA2, COL3A1, COL5A1, COL5A2, DLG4, EFEMP1, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1, TGFBR2)
Pan77 Sindrome di Joubert & Meckel-Gruber, classico (AHI1, ARL13B, ARL3, B9D1, B9D2, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, FAM149B1, INPP5E, KIF7, MKS1, NPHP1, NPHP3, OFD1, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423)
Pan78 Anemia megaloblastica con o senza omocistinuria – difetti del metabolismo intracellulare della cobalamina (AMN, CUBN, GIF, SLC19A2, DHFR, MTR, MMACHC, MMADHC, MTRR, LMBRD1, ABCD4)
Pan79 Ritardo 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, NEXMIF, 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)
Pan80 Displasia metafisaria (ANKH, CDKN1C, FLNA, MMP9, MMP13, NKX3-2, RMRP, RUNX2)
Pan81 Acidemia metilmalonica (ABCD4, ACSF3, CD320, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, SUCLA2, SUCLG1)
Pan82 Deficit 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)
Pan83 MODY (ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KLF11, NEUROD1, PAX4, PDX1, RFX6, ZFP57)
Pan84 Mucopolisaccaridosi (ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, IDS, IDUA, NAGLU, SGSH)
Pan85 Displasia epifiseale multipla (COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2)
Pan86 Miopatia 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, SVIL)
Pan87 Miopatia 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.)
Pan88 Nefronoftisi (ADAMTS9, NPHP1, INVS, NPHP3, NPHP4, IQCB1, CEP290, GLIS2, RPGRIP1L, NEK8, SDCCAG8)
Pan90 Neurofibromatosi (NF1, NF2, SPRED1)
Pan91 Difetti della migrazione neuronale (ACTB, ACTG1, ADGRG1, AKT3, ARFGEF2, ARX, ATP6V0A2, B3GALNT2, COL4A1, COL4A2, COL18A1, CPT2, DCX, DYNC1H1, EMX2, EOMES, FAT4, FGFR3, FH, FKRP, FKTN, FLNA, FLVCR2, GMPPB, GPSM2, IER3IP1, ISPD, KATNB1, KIF1BP, KIF7, L1CAM, LAMA2, LAMB1, LAMC3, LARGE1, MACF1, MAPK8IP3, MED12, MEF2C, MPDZ, NDE1, NSDHL, OCLN, PAFAH1B1, PAX6, PHGDH, PEX7, PIK3CA, PIK3R2, POMGN, POMGNT1, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RELN, RTTN, SEPSECS, SNAP29, SRPX2, T2, TMEM5, TUBA1A, TUBA8, TUBB2A, TUBB2B, TUBB3, VLDLR, WDR62, YWHAE)
Pan92 Sindrome di Noonan, LEOPARD, Costello e CFC, classico (BRAF, CBL, HRAS, KRAS, MAPK1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RRAS2, SHOC2, SOS1, SPRED1)
Pan93 Atassia con aprassia oculomotoria (APTX, MAG, PIK3R5, SETX, PNKP)
Pan94 Oftalmoplegia esterna progressiva (ACADS, DNA2, DGUOK, MGME1, OPA1, POLG, POLG2, RNASEH1, RRM2B, RYR1, SLC25A4, TK2, TWNK, VARS2, mtDNA)
Pan95 Atrofia ottica (ACO2, AUH, CISD2, DNAJC19, MFN2, OPA1, OPA3, RTN4IP1, SERAC1, SPG7, TIMM8A, TMEM126A, TWNK, WFS1, YME1L1, mtDNA)
Pan96 Osteogenesi imperfetta (ANO5, ALPL, BMP1, CCDC134, COL1A1, COL1A2, COL2A1, CREB3L1, CRTAP, FKBP10, IFITM5, LRP5, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, YY1AP1, WNT1)
Pan97 Osteopetrosi (CA2, CLCN7, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFSF11, TNFRSF11A)
Pan98 Carcinoma del pancreas (APC, ATM, BMPR1A, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS1, PMS2, PRSS1, SMAD4, STK11)
Pan99 Pancreatite (PRSS1, SPINK1, CFTR, CTRC, TRPV6)
Pan100 Neurodegenerazione con accumulo cerebrale di ferro [NBIA] (ATP13A2, C19orf12, COASY, CP, CRAT, DCAF17, FA2H, FTL, PANK2, PLA2G6, REPS1, WDR45)
Pan101 Morbo di Parkinson (ADH1C, ATP13A2, ATP1A3, ATP6AP2, ARSD, CHCHD2, CSF1R, DCTN1, DNAJC6, EIF4G1, FBXO7, FTL, GBA, GCH1, GIGYF2, HTRA2, LRRK2, MAPT, PARK2, PARK7, PDXK, PINK1, PLA2G6, POLG, PRKRA, SLC6A3, SNCA, SNCAIP, SNCB, SYNJ1, TAF1, TH, UCHL1, VPS13C, VPS35)
Pan102 Sindrome della febbre periodica (ELANE, LPIN2, MEFV, MVK, NLRP3, NLRP12, PSTPIP1, TNFRSF1A)
Pan103 Feocromocitoma (DLST, MAX, PRKAR1A, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL)
Pan104 Rene policistico e sua diagnosi differenziale, classico (HNF1B, LRP5, PAX2, PKD1, PKD2, PKHD1, PRKCSH, SEC63, UMOD, VHL)
Pan105 Ipoplasia pontocerebellare, classico (CASK, CHMP1A, EXOSC3, RARS2, SEPSECS, TSEN2, TSEN34, TSEN54, VRK1)
Pan106
Pan107 Cancro renale (EPCAM, FH, FLCN, HNF1A, HNF1B, MET, MITF, MLH1, MSH2, MSH6, PMS1, PMS2, PTEN, SDHB, SDHD, TSC1, TSC2, VHL, WT1)
Pan108 Retinite pigmentosa, esteso (ABCA4, AGBL5, AHR, ARHGEF18, AIPL1, ARL2BP, ARL3, ARL6, BBS1, BBS2, BEST1, C2ORF71, C8ORF37, CA4, CDHR1, CERKL, CLRN1, CNGA1, CNGB1, CRB1, CRX, CYP4V2, DHDDS, DHX38, EYS, FAM161A, FSCN2, GUCA1B, HGSNAT, HK1, IDH3B, IMPDH1, IMPG2, IFT140, IFT172, IFT43, KIAA1549, KIZ, KLHL7, LRAT, MAK, MERTK, NEK2, NR2E3, NRL, OFD1, PCARE, PDE6A, PDE6B, PDE6G, POMGNT1, 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)
Pan109
Pan110 Atassia spinocerebellare, classico (ABCB7, ADCK3, AFG3L2, ANO10, APTX, ATXN1, ATXN2, ATXN3, ATXN7, ATXN10, CACNA1A, CACNA1G, CCDC88C, CHDH, DNMT1, EEF2, ELOVL4, FGF14, GRID2, GRM1, IFRD1, ITPR1, KCNC3, KCND3, NPTX1, PDYN, PMPCA, POLG, PPP2R2B, PRKCG, RNF216, RUBCN, SACS, SAMD9L, SETX, SNX14, SPTBN2, SYNE1, SYT14, TBP, TDP1, TGM6, TRPC3, TTBK2, TTPA, TWNK, WWOX)
Pan112 Tumori della pelle (CDKN2A, EPCAM, MC1R, MITF, MLH1, MSH2, MSH6, PMS1, PMS2, PTCH1, XRCC3)
Pan113 Paraplegia spastica ereditaria (ACP33, ALDH18A1, AMPD2, AP5Z1, AP4B1, AP4E1, AP4M1, AP4S1, ARL6IP1, ATL1, ATP13A2, B4GALNT1, BSCL2, CAPN1, C12orf65, C19orf12, CPT1C, CYP2U1, CYP7B1, DDHD1, DDHD2, DSTYK, ENTPD1, ERLIN1, ERLIN2, FA2H, FARS2, GBA2, GJC2, HSPD1, IBA57, KIAA0196, KIF1A, KIF1C, KIF5A, KLC2, L1CAM, MAG, NIPA1, NT5C2, PLP1, PNPLA6, REEP1, RTN2, SELENOI, SLC16A2, SLC33A1, SPAST, SPG7, SPG11, SPG20, SPG21, SVBP, TECPR2, TFG, UBAP1, UCHL1, VPS37A, WASHC5, ZFYVE26, ZFYVE27)
Pan114 Sferocitosi ereditaria (ANK1, EPB42, SLC4A1, SPTA1, SPTB)
Pan115 Malattia di Stargardt (ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, PROM1, PRPH2, RP1L1, RPGR, TIMP3, RIMS1)
Pan116 Sindrome di Stickler (BMP4, COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, LOXL3)
Pan117 Malattie del metabolismo del surfattante (ABCA3, CSF2RA, CSF2RB, NKX2-1, OAS1, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD)
Pan118 Trombocitopenia (ACTN1, ADAMTS13, ANKRD26, ANO6, CD36, CYCS, DIAPH1, EPHB2, ETV6, FLI1, FLNA, FYB, GATA1, GFI1B, GP1BA, GP1BB, GP6, GP9, HOXA11, IKZF5, ITGA2B, ITGB3, MASTL, MECOM, MPL, MYH9, NBEAL2, P2RY12, PLAU, PRKACG, RASGRP2, RBM8A, RUNX1, SLFN14, SRC, STIM1, TBXA2R, THPO, TPM4, TRPM7, TUBB1, WAS)
Pan119 Cancro della tiroide (APC, PTEN, RET)
Pan120 Scelrosi tuberosa (TSC1, TSC2)
Pan121 Distrofia muscolare di Ullrich (COL6A1, COL6A2, COL6A3)
Pan122 Difetti 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, MUT, NAGS, OTC, PC, PCCA, PCCB, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC7A7, SUCLA2, SUCLG1, TMEM70)
Pan1 Leucemia mieloide acuta (ARHGEF12, CBFB, CEBPA, FLT3, GATA2, JAK2, KIT, LPP, NPM1, NPM1, NSD1, PICALM, RUNX1, SH3GL1, TERT)
Pan123 Sindrome di Usher tipo I, II, III e sua diagnosi differenziale (ADGRV1, CDH23, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, RPGR, TIMM8A, USH1C, USH1G, USH2A, WHRN)
Pan124 Vitreoretinopatia e sindrome di Wagner (COL2A1, FZD4, LRP5, NDP, TSPAN12, VCAN)
Pan125 Sindrome di Waardenburg (EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR)
Pan126 Sindrome di Walker-Warburg (FKRP, FKTN, ISPD, LARGE1, POMT1, POMT2)
Pan127 Sindrome di Zellweger (PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26)
Pan128 Infarto 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)
Pan129 Discinesia/corea familliare (ADYC5, NKX2-1, PRRT2, PNKD, SLC2A1)
Pan130 Sindrome di Rett e simil-Rett (MECP2, FOXG1, CDKL5, JMJD1C, MEF2C, TCF4, GABBR2, GABRD, GRIN1, WDR45, SMC1A.)
Pan131 Rachistismo ipofostatemico (PHEX, CLCN5, FGF23, DMP1, ENPP1, SLC34A3)
Pan132 Sindrome di Allan-Herndon-Dudley e sua diagnosi differenziale (ABCD1, ASPA, ARSA, GALC, MECP2, PLP1, SLC16A2, SMS)
Pan133 Microangiopatia cerebroretinica con calcificazioni e cisti – sindrome Coats plus – e sua diagnosi differenziale (CTC1, JAM2, POT1, SNORD118, SLC20A2, PDGFRB, PDGFB)
Pan134 Discheratosi congenita e sua diagnosi differenziale (ACD, CTC1, DKC1, NHP2, NOP10, PARN, POT1, RETL1, SNORD118, TERC, TERT, TINF2, TPP1, WRAP53)
Pan135 Sindrome di Joubert & Meckel-Gruber, esteso (AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP104, CEP290, CEP41, CSPP1, FAM149B1, INPP5E, KIAA0556, KIAA0586, KIF7, KIF14, MKS1, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423)
Pan136 Ipoplasia pontocerebellare, esteso (AMPD2, CASK, CHMP1A, CLP1, EXOSC3, EXOSC8, PCLO, RARS2, SEPSECS, TSEN15, TSEN2, TSEN34, TSEN54, VPS53, VRK1)
Pan137
Pan138 Fibromialgia, 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, RYR1, SCO1, SCO2, SLC16A1, SPR, STIM1, SURF1, TACO1, TNFRSF1A, TNXB)
Pan139 Sindrome di Noonan, LEOPARD, Costello e CFC, esteso (A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MAPK1, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS2, RREB1, SHOC2, SOS1, SOS2, SPRED1)
Pan140 Non compattazione del ventricolo sinistro (ACTC1, ACTN2, CSRP3, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, NNT, PKP2, PLN, RYR2, SGCD, TAZ, TCAP, TNNT2, TPM1)
Pan141 Retinite 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)
Pan142 Craniosinostosi, inluse le craniosinostosi FGFR-relate e loro diagnosi differenziale e altre forme di craniosinostosi [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, sindrome di Robinow-Sorauf syndrome, sindrome di Meier-Gorlin syndrome 7, displasia cranioectodermica, sindrome 3MC, sindrome progeroide di Fontaine, sindrome di Hamamy, sindrome di Curry-Jones, sindrome di Sweeney-Cox syndrome e altre] (ALX4, CDC45, COLEC11, CTNNA1, CYP26B1, EFNB1, ERF, FGF9, FGFR1, FGFR2, FGFR3, FREM1, GLI2, GLI3, GPC4, HUWE1, IFT122, IL11RA, IRX5, IFT43, KAT6A, MASP1, MBL2, MSX2, P4HB, POR, PPP3CA, RAB23, RECQL4, RSPRY1, SEC24D, SOX11, SKI, SLC25A24, SMAD6, SMO, SOX6, TCF12, TFAP2B, TGFBR1, TGFBR2, TWIST1, WDR19, ZIC1)
Pan143 Morte improvvisa (ABCC9, ACTN2, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAVIN1, CAV3, CSRP3, CTNNA3, DES, DPP6, DSC2, DSG2, DSP, DTNA, FBN1, FGF12, GJA5, GPD1L, HCN4, JPH2, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KLHL24, 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, SCN10A, SEMA3A, SLMAP, SNTA1, TANGO2, TECRL, TCAP, TGFB3, TGFBR2, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTN, VCL)
Pan144 Displasia 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)
Pan145 Iperaldosteronismo familiare e sua diagnosi differenziale (CACNA1D, CACNA1H, CYP11B1, CYP11B1/CYP11B2 fusion gene, CLCN2, HSD11B2, KCNJ5, NR3C1, NR3C2, SCNN1B, SCNN1G)
Pan146 Colestasi e difetti della sintesi degli acidi biliari (ABCB11, ABCB4, ABCD3, ACOX2, AKR1D1, AMACR, ATP8B1, CYP7B1, HSD3B7, LSR, MYO5B, NR1H4, USP53, TJP2)
Pan147
Pan148 Ipoparatiroidismo ereditario, isolato (PTH, GCM2, CASR)
Pan149 Sindrome di Adams-Oliver (ARHGAP31, DOCK6, DLL4, EOGT, ITGB4, NOTCH1, PLEC, RBPJ)
Pan150 Pseudoipoaldosteronismo (CUL3, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4)
Pan151 Sindromi da iperaccrescimento (AKT1, AKT3, APC2, CCND2, CDKN1C, DIS3L2, DNMT3A, EED, EZH2, GNAQ, GPC3, HERC1, HIST1H1E, MTOR, NFIX, NSD1, OFD1, PDGFRB, PIK3CA, PIK3R2, PPP2R5B, PPP2R5C, PPP2R5D, RNF125, TCF20)
Pan152 Cataratta, 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)
Pan153 Atassia 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)
Pan154 Atassia spinocerebellare, full at once (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, NFASC, 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)
Pan155 Atassia spinocerebellare, basic – SCA tipi 1, 2, 3, 6, 7, 17 (ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, TBP)
Pan156 Atassia 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)
Pan157 Miopatie distali (ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, SQSTM1, TCAP, TIA1, TTN, VCP)
Pan158 Miopatie e patologie neuromuscolari, omnicomprensivo (ACTA1, ACTN2, 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, GGPS1, GIPC1 GMPPB, GNE, HACD1, HNRNPA1, HNRNPA2B1, IGHMBP2, ISCU, ISPD, ITGA7, KBTBD13, KCNJ2, KLHL40, KLHL41, KLHL9, LAMA2, LAMP2, LARGE1, LDB3, LMNA, LMOD3, MATR3, MEGF10, MSTN, MTM1, MTMR14, MYBPC1, MYF6, MYH14, MYH2, MYH7, MYL2, MYOT, MYPN, NEB, OPA1, ORAI1, PABPN1, PLAGL1, PLEC, PLEKHG5, POLG, POLG2, POMGNT1 , POMT1, POMT2, POPDC3, PUS1, RRM2B, RYR1, SCN4A, SELENON, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SPEG, SQSTM1, STAC3, STIM1, SUCLA2, SYNE1, TARDBP, TCAP, TIA1, TK2, TMEM5, TNNI2, TNNT1, TNPO3, TPM2, TPM3, TRIM32, TRPA1, TRPV4, TTN, TWNK, UBA1, VCP, VMA21, VRK1, YARS2, mtDNA)
Pan159 Displasie scheletriche, esteso (ACP5, AGPS, ALPL, ARSE, B3GAT3, BGN, BMPR1B, BMP2, C21orf2, CANT1, CHST3, COL10A1, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CRTAP, CSGALNACT1, DDR2, DYM, EBP, EIF2AK3, FGFR3, FLNB, FZD2, 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)
Pan160 Sindromi da deplezione del DNA mitocondriale (AGK, DGUOK, FBXL4, MGME1, MPV17, OPA1, POLG, RRM2B, SLC25A4, SUCLA2, SUCLG1, TFAM, TK2, TWNK.)
Pan161 Displasie 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)
Pan162 Anemia 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)
Pan163 Sindrome di Weill-Marchesani e Weill-Marchesani-like (ADAMTS10, ADAMTS17, FBN1, LTBP2)
Pan164 Fibrosi cistica e sua diagnosi differenziale (ARMC4, C21ORF56, CA12, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFAP300, CFTR, DNAAF1, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, GAS8, HYDIN, IL2RG, KTU, LRRC6, NME8, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SBDS, SCNN1A, SCNN1B, SCNN1G, SPAG1, TAP1, TAP2, TTC25, ZMYND10)
Pan165 Immunodeficienza 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)
Pan166 Polidattilia, 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)
Pan167 Malattie 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)
Pan168
Pan169 Malattia Leventinese [o Drusen radiali dominanti o distrofia retinica a favo di Doyne] e sua diagnosi differenziale (ABCA4, BEST1, CFB, CFH, EFEMP1, TIMP3)
Pan170 Sindrome del nevo basocellulare [sindrome di Gorlin o Gorlin-Goltz] (PTCH1, PTCH2, SUFU)
Pan171 Dislipedemia (ABCA1, ABCG5, ABCG8, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOC3, APOE, CETP, CYP27A1, LCAT, LDLR, LDLRAP1, LIPA, LIPC, LMF1, LPL, MTTP, PCSK9, SAR1B, SLCO1B1)
Pan172
Pan173 Cancro ereditario della mammella e dell’ovaio, essenziale (BRCA1, BRCA2)
Pan174 Trombofilia (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)
Pan175 Convulsioni febbrili e generalized epilepsy with febrile seizures plus [GEFS+] (ADGRV1, CPA6, GABRD, GABRG2, SCN1A, SCN1B, SCN9A, STX1B)
Pan176 Iperinsulinismo familiare (ABCC8, KCNJ11, GLUD1, GCK, HK1, HADH, HNF4A, HNF1A, INSR, SLC16A1, UCP2)
Pan177 Insufficienza 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)
Pan178 Acidosi 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, WDR72, WNK4, XDH)
Pan179 Neutropenia congenita severa (CSF3R, ELANE, G6PC3, GFI1, HAX1, JAGN1, VPS45, WAS)
Pan180 Displasia 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)
Pan181 Fibrosi polmonare familiare (TERT, TERC, SFTPC, SFTPA2)
Pan182 Acromatopsia (ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H)
Pan183
Pan184
Pan185 Sindrome di Meier-Gorlin e nanismo primordiale microcefalico (DONSON, ORC1, ORC4, GINS3, GMNN, ORC6, CDT1, CDC6, CDC45L, MCM5, PCNT, RNU4ATAC)
Pan186 Sindrome 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, MAPK1, 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)
Pan187 Difetti 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)
Pan188 Neuropatia autonomica e sensoriale (ATL1, ATL3, DNMT1, DST, ELP1, GBF1, KIF1A, NGF, NTRK1, PRDM12, RETREG1, SCN11A, SCN9A, SPTLC1, SPTLC2, WNK1)
Pan189 Sequenza acinesia fetale e sindrome degli pterigi multipli [incl. sindrome di Escobar] (CHRNA1, CHRND, CHRNG, CNTN1, DOK7, NUP88, RAPSN, SLC18A3, SYNE1)
Pan190 Sindrome di Baller-Gerold e sua diagnosi differenziale (ESCO2, RECQL4, SALL4, TBX5, TWIST)
Pan191 Sindrome di Bohring-Opitz e sua diagnosi differenziale (ASXL1, ASXL2, ASXL3, CD96, HDAC8, KLHL7, NIPBL, RAD21, SMC1A, SMC3)
Pan192 Sindrome di Burn-McKeown e sindrome di Treacher-Collins (POLR1C, POLR1D, TCOF1, TXNL4A)
Pan193 Sindromi branchiootiche e branchiootorenali (EYA1, SIX1, SIX5)
Pan194 Cherubismo e sua diagnosi differenziale (FMR1, GNAS, NF1, PTPN11, SH3BP2, SOS1)
Pan195 Condrodisplasia puntata e sua diagnosi differenziale, escl. sindrome di Zellweger (AGPS, ARSE, DHCR7, EBP, GGCX, GLB1, GNPAT, GNPTAB, GNS, HGSNAT, MGP, NAGLU, NSDHL, PEX7, SGSH, SUMF1, VKORC1)
Pan196 Sindrome di Griscelli e malattia da sovraccarico di acido sialico infantile (MLPH, MYO5A, RAB27A, SLC17A5)
Pan197 Sindrome di Moebius (PLXND1, ?REV3L )
Pan198 Malattia di Camurati-Engelman e sua diagnosi differenziale (FAM111A, LRP5, SOST, TBXAS1, TGFB1, TNFRSF11B)
Pan2
Pan199 Malattia di Canavan e sua diagnosi differenziale (AMT, ARSA, ASPA, GCDH, GCSH, GFAP, GLDC, HEXA, mtDNA)
Pan200 Ipoplasia cartilagine-capelli, displasia aneuxetica e loro diagnosi differenziale (COL10A1, DCLRE1C, ELANE, G6PC3, PTH1R, RAG1, RAG2, RMRP, SBDS, SMARCAL1, WAS)
Pan201 Miopatia congenita central core e sua diagnosi differenziale (ACTA1, CFL2, MYH7, RYR1, SELENON, TNNT1)
Pan202 Xantomatosi cerebrotendinea e sua diagnosi differenziale (ABCG5, ABCG8, APOB, APOE, CYP27A1, LDLR, LDLRAP1, LPL, PCSK9 )
Pan203 Sindrome di Coffin-Lowry e sua diagnosi differenziale (ATRX, ELN, MED12, PHF6, RPS6KA3, TCF4 )
Pan204
Pan205 Fibrosi congenita dei muscoli extraoculari e sua diagnosi differenziale (CHN1, HOXA1, KIF21A, PEO1, PHOX2A, POLG, ROBO3, SALL4, SLC25A4, TMPO, TUBB2B, TUBB3, mtDNA)
Pan206 Porfiria, spettro della (ALAD, ALAS2, CPOX, FAH, FECH, GATA1, HFE, HMBS, PPOX, UROD, UROS)
Pan207 Sindrome di Floating-Harbor e sua diagnosi differenziale (CCDC8 , CREBBP, CUL7, EP300, OBSL1, SRCAP)
Pan208 Ipoplasia dermica focale e sua diagnosi differenziale (HCCS, IKBKG , PORCN, RECQL4, TP63)
Pan209 Neuropatia ad assoni giganti e sua diagnosi differenziale (ARSA, ATP7A, EGR2GAN, GDAP1, MTMR2, PLA2G6, SBF1, SBF2, SH3TC2)
Pan210 Malattia di Niemann-Pick (NPC1, NCPC2, SMPD1 )
Pan211 Poichilodermia (FAM111B, FERMT1, RECQL4, USB1)
Pan212 Sindromi 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)
Pan213 Xeroderma pigmentoso e sua diagnosi differenziale (DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, GTF2E2, GTF2H5, MPLKIP, POLH, RECQL4 , SLC6A19, UVSSA, XPA, XPC)
Pan214 Tricotiodistrofia (ERCC2, ERCC3, GTF2E2, GTF2H5, MPLKIP, RNF113A)
Pan215 Mucolipidosi (GNPTAB, GNPTG, MCOLN1 )
Pan216 Cutis laxa (ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, FBLN5, LTBP4, PYCR1)
Pan217 Epilessia familiare mioclonica dell’adulto (ADRA2B, CNTN2, FAME3, FAME4, RAPGEF2, SAMD12, TNRC6A)
Pan218 Epilessia familiare focale a loci variabili (DEPDC5, NPR2L, NPR3L, SCN3A)
Pan219 Epilessia progressiva mioclonica (CERS1, CSTB, EPM2A, GOSR2, KCNC1, KCTD7, LMNB2, NHLRC1, PRDM8, PRICKLE1, SCARB2)
Pan220 Epilessia familiare del lobo temporale (CPA6, ETL2, ETL3, ETL4, ETL6, GAL, LGI1)
Pan221 Epilessia notturna del lobo frontale (CHRNA2, CHRNA4, CHRNB2, ENFL2, KCNT1)
Pan222 Malattia granulomatosa cronica (CYBA, CYBB, CYBC1, NCF1, NCF2, NCF4)
Pan223
Pan224 Emofilia 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 )
Pan225 Sindrome di Perrault (CLPP, ERAL1, HARS2, HSD17B4, LARS2, TWNK)
Pan226 Porencefalia e schizencefalia (COL4A1, COL4A2, EMX2, SHH, SIX3)
Pan227 Insufficienza ovarica precoce (BMP15, DIAPH2, ERCC6, FANCM, FIGLA, FLJ22792, FOXL2, GDF9, HFM1, MCM8, MSH5, NOBOX, NR5A1, POLR3H, STAG3, SYCE1, TP63)
Pan228 Glaucoma primario congenito e sua diagnosi differenziale (CYP1B1, FOXC1, GNAQ, LTBP2, NF1, NHS, OCRL, PAX6, PITX2, SLC4A11, SPATA13, TEK, WT1)
Pan229 Iperossaluria primaria (AGXT, GRHPR, HOGA1)
Pan230 Pseudoxanthoma elasticum (ABCC6, ENNP1, GGCX)
Pan231 Insufficienza della spermatogenesi (AK7, ARMC2, AURKC, BRDT, CATSPER1, CEP19, CFAP43, CFAP44, CFAP69, DNAH1, DPY19L2, FANCM, FSIP2, KLHL10, MEIOB, NANOS1, NR5A1, PMFBP1, PLCZ1, SEPT12, SLC26A8, SOHLH1, SPATA16, SPINK2, SUN5, SYCE1, SYCP3, TAF4B, TEX11, TEX14, TEX15, TDRD9, TSGA10, WDR66, ZMYND15)
Pan232 Atrofia 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)
Pan233 Deficit di lipasi acida lisosomiale (Wolman/CESD and its differential diagnosis )
Pan234 Sindromi linfoproliferative X-linked e autosomiche (CD27, ITK, SH2D1A, XIAP)
Pan235 Paralisi periodica, ipercalemica, ipocalemica, tireotossica, e sindrome di Andersen-Tawil (CACNA1S, KCNJ18, KCNJ2, RYR1, SCN4A)
Pan236 Epilessia, tutti i geni (ADSL, ALDH5A1, ALDH7A1, ALG13, AMACR, ARHGEF9, ARX, ASNS, ATP1A2, ATP1A3, ATP6AP2, ATRX, BRAT1, CACNA1A, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTN2, CNTNAP2, CSTB, CTNNB1, CTSD, CTSF, DDX3X, DEPDC5, DNAJC5, DNM1, DYRK1A, EEF1A2, EHMT1, EPM2A, FLNA, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GAD1, GAMT, GATM, GBA, GLDC, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, HNRNPU, IQSEC2, KANSL1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM6A, NEXMIF, LGI1, MAGI2, MARCHF6, MBD5, MECP2, MEF2C, MFSD8, MTHFR, NALCN, NGLY1, NHLRC1, NOTCH3, NPRL3, NR2F1, NRXN1, PACS1, PCDH19, PIGA, PIGN, PIGO, PIGU, PIGV, PLCB1, PNKP, PNPO, POLG, PPP2R5D, PPT1, PRICKLE1, PRRT2, PTPN23, PURA, QARS, RAPGEF2, SAMD12, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SEMA6B, SLC13A5, SLC19A3, SLC20A2, SLC25A22, SLC2A1, SLC6A1, SLC6A8, SLC9A6, SMC1A, SPATA5, SPTAN1, STARD7, STX1B, STXBP1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TCF4, THG1L, TNRC6A, TPP1, TRIM8, TRPM3, TSC1, TSC2, UBE3A, WDR45, WWOX, YEATS2, YIF1B, ZEB2, mtDNA)
Pan237 Distrofia maculare vitelliforme, altre distrofie maculari e loro diagnosi differenziale, basic (ABCA4, BEST1, CFB, CFH, CNGB3, EFEMP1, ELOVL4, IMPG1, IMPG2, PROM1, PRPH2, RP1L1, TIMP3)
Pan238 Distrofia maculare vitelliforme, altre distrofie maculari e loro diagnosi differenziale, esteso, incl. distrofie dei coni e dei coni e bastoncelli (ABCA4, ADAM9, AIPL1, BEST1, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CFB, CFH, CNGB3, CNNM4, CRX, DRAM2, EFEMP1, ELOVL4, GUCA1A, GUCY2D, IMPG1, IMPG2, KCNV2, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RP1L1, RPGR, RPGRIP1, SEMA4A, TIMP3, TTLL5, UNC119)
Pan239 Miopia (ARR3, CFAP53, CPSF1, HS6ST2, LRPAP1, P4HA2, SCO2, SLC39A5, ZNF644)
Pan240 Displasia fibrosa poliostotica/sindrome di McCune-Albright e sua diagnosi differenziale (GNAS, HRAS, NF1, NRAS, SH3BP2)
Pan241 Resistenza all’ormone tiroideo e ipotiroidismo congenito senza gozzo (NKX2-5, PAX8, THRA, THRB, TSHB, TSHR )
Pan242 Sindrome da iper-IgE e sua diagnosi differenziale, incl. immunodeficienza 35, sindrome di Wiskott-Aldrich, sindrome di Netherton e sindrome di Omenn (DCLRE1C, DOCK8, IL2RG, RAG1, RAG2, SPINK5, STAT3, TYK2, WAS, ZNF341)
Pan243 Esostosi multiple (EXT1, EXT2)
Pan244 Miopatia centronucleare (BIN1, DNM2, CCDC78, MTM1, MTMR14, MYF6, PLAGL1, SPEG, RYR1)
Pan245 Deficit congenito di sintesi degli acidi biliari (ABCD3, ACOX2, AKR1D1, AMACR, CYP7B1, HSD3B7)
Pan246 Sindrome di Rubinstein-Tayibi (CREBBP, EP300)
Pan247 Immunodeficienza comune variabile(CD19, CD81, CR2, ICOS, IKZF1, IL21, IRF2BP2, LRBA, MS4A1, NFKB1, NFKB2, TNFRSF13B, TNFRSF13C)
Pan249 Sindrome di Moebius (PLXND1, REV3L, TUBB3)
Pan250 Sindrome di Zimmermann-Laband (ATP6V1B2, KCNH1, KCNN3)
Pan250 Sindrome di Zimmermann-Laband (ATP6V1B2, KCNH1, KCNN3)
Pan251 Galattosemia (GALE, GALK1, GALM, GALT)
Pan251 Galattosemia (GALE, GALK1, GALM, GALT)
Pan253 Immunodeficienze autoinfiammatorie (CARD14, IL10RA, IL10RB, IL1RN, IL36RN, ISG15, LPIN2, MEFV, MVK, NLRP12, NLRP3, NOD2, PLCG2, PSMB8, PSTPIP1, RBCK1, SH3BP2, TNFRSF1A)
Pan254 Sindrome di Seckel (ATR, CEP152, CEP63, CENPJ, DNA2, NIN, NSMCE2, RBBP8, TRAIP)
Pan255 Sindrome di Sotos (NFIX, NSD1, APC2)
Pan256 Sindrome di Kabuki (KDM6A, KMT2D)
Pan257 Iperplasia adrenogenitale congenita (CYP11B1, CYP21A2, CYP17A1, HSD3B2, POR, STAR)
Pan258 Distrofie retiniche, non-sindromiche o paucisindromiche, esteso (ABCA4, ADAM9, AGBL5, AHR, ARHGEF18, AIPL1, ARL2BP, ARL3, ARL6, BBS1, BBS2, BEST1, C2ORF71, C8ORF37, C1QTNF5, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CDH3, CDHR1, CEP290, CERKL, CFB, CFH, CHM, CLRN1, CNGA1, CNGB1, CNGB3, CNNM4, COL4A1, CRB1, CRX, CTNNA1, CYP4V2, DHDDS, DHS6S1, DHX38, DRAM2, EFEMP1, ELOVL4, EYS, FAM161A, FSCN2, GDF6, GUCA1A, GUCA1B, GUCY2D, HGSNAT, HK1, IDH3B, IGFBP7, IMPDH1, IMPG1, IMPG2, IFT140, IFT172, IFT43, IQCB1, ITM2B, KCNV2, KIAA1549, KIZ, KCNJ13, KLHL7, LCA5, LRAT, MAPKAP3, MAK, MERTK, MIR204, MVK, NEK2, NMNAT1, NR2E3, NRL, OAT, OFD1, OPN1LW, OPN1MW, OTX2, PCARE, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PGK1, PITPNM3, PLA2G5, POMGNT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PIKFYVE, RBP3, RBP4, RDH12, REEP6, RAB28, RAX2, RCBTB1, RD3, RDH12, RDH5, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RS1, SAG, SEMA4A, SIX6, SLC7A14, SNRNP200, SPATA7, SSBP1, TGFBI, TIMP3, TOPORS, TTC8, TTLL5, TUB, TULP1, UNC119, USH2A, ZNF408, ZNF513)
Pan259 Eritrocitosi (BPGM, EGLN1, EPAS1, EPOR, HBA1, HBA2, HBB, JAK2, SH2B3, VHL)
Pan260 Ipercalcemia (AP2S1, CASR, CYP24A1, GNA11, SLC34A1)
Pan261 Demenza a corpi di Lewy (APOE, GBA, CYP2D6, LRRK2, PRNP, PSEN2, SNCA, SNCB)
Pan262 Deficit isolato dell’ormone della crescita (GH1, GHRHR, BTK, RNPC3)
Pan263 Anemia emolitica (ABCB6, ABCG8, ADAMTS13, AK1, ANK1, ALDOA, ATP11C, BPGM, C3, CASP10, CD46, CD59, CFB, CFHR5, CFI, CPOX, DGKE, FAS, FASLG, EPB41, EPB42, FOXP3, G6PD, GCLC, GPI, GSS, GSR, HK1, IL2RB, KCNN4, KRAS, LCAT, LRBA, NRAS, NT5C3A, PFKM, PGK1, RHAG, RHCE, SLC2A1, SLC4A1, SPTA1, SPTB, THBD, TPI1, UROS)
Pan264 Diarrea, congenita, cronica (DGAT1, EPCAM, GUCY2C, MYO5B, NEUROG3, PERCC1, PLVAP, SLC26A3, SLC9A3, SPINT2, STX3, STXBP2, WNT2B)
Pan265 Sindrome da iper-IgE ed eosinofilia (ADA, ASXL1, BCL11B, CAPN3, CARD11, CARD14, CASP10, CD247, CHD7, DCLRE1C, DNMT3A, DOCK8, ELANE, EXTL3, FAS, FASLG, FLG, FOXP3, IL2RG, IL6R, IL6ST, IL7R, JAK1, LIG4, NLRP1, PDGFRA, PDGFRB, PGM3, RAG1, RAG2, RBM8A, RMRP, SLC46A1, SPINK5, STAT3, TET2, TRAC, WAS, ZAP70, ZNF341)
Pan266 Panipopituitarismo (GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, SOX2, SOX3)
Pan267 Variazioni del ritmo cicardiano (ARNTL, ARNTL2, BHLHE40, BHLHE41, CLOCK, CRY1, CRY2, CSNK1E, CSNK2A1, DEC2, FBXL3, FBXL21, NFIL3, NR1D1, NR1D2, PER1, PER2, PER3, RORA, RORB, RORC, TIMELESS)