Lista dei Pannelli

Tutti i pannelli qui sotto sono immediatamente disponibili presso Breda Genetics. Reperti incidentali: su richiesta.

>>> Questa versione della lista è: 9.6.2 – aggiornata al: 20 novembre 2019 <<<

Pannelli

Pan81 Acidemia metilmalonica (ABCD4, ACSF3, CD320, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, SUCLA2, SUCLG1)
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)
Pan182 Acromatopsia (ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H)
Pan3 Albinismo 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.)
Pan66 Amaurosi congenita di Leber (AIPL1, CABP4, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13 , LCA5, LRAT, NMNAT1, OTX2, PRPH2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1)
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)
Pan39 Anemia di Diamond-Blackfan (GATA1, RPL11, RPL35A, RPL5, RPL15, RPL26, RPL27, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2)
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)
Pan78 Anemia megaloblastica con o senza omocistinuria – difetti del metabolismo intracellulare della cobalamina (AMN, CUBN, GIF, SLC19A2, DHFR, MTR, MMACHC, MMADHC, MTRR, LMBRD1, ABCD4)
Pan8 Aneurisma aortico familiare toracico (ACTA2, COL3A1, FBN1, FBN2, LTBP3, MYH11, MYLK, SLC2A10, SMAD3, SMAD4, TGFBR1, TGFBR2, TGFB2)
Pan7 Anoftalmia/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)
Pan9 Aritmie 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)
Pan11 Artrogriposi distale e altre contratture degli arti (ADCY6, 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)
Pan25 Atassia cerebellare (ADCK3, APTX, COQ2, COQ9, DNMT1, FXN, PDSS1, PDSS2, POLG, RNU12, SACS, SETX, SYNE1, TTPA, VLDLR)
Pan93 Atassia con aprassia oculomotoria (APTX, PIK3R5, SETX, PNKP)
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)
Pan110 Atassia spinocerebellare, classico (ABCB7, ADCK3, AFG3L2, ANO10, APTX, ATXN1, ATXN2, ATXN3, ATXN7, ATXN10, 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)
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)
Pan47 Atassie episodiche e loro diagnosi differenziale (ARG1, ASL, ASS1, BCKDHA, BCKDH, CACNA1A, CACNB4, CPS1, DBT, DLD, IVD, KCNA1, KCNQ2, OTC, PDHA1, PNKD, SLC6A19, SNC2A, SLC1A3)
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)
Pan95 Atrofia ottica (ACO2, AUH, CISD2, DNAJC19, MFN2, OPA1, OPA3, RTN4IP1, SERAC1, SPG7, TIMM8A, TMEM126A, TWNK, WFS1, YME1L1, mtDNA)
Pan119 Cancro della tiroide (APC, PTEN, RET)
Pan17 Cancro ereditario della mammella e dell’ovaio (ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, MRE11A, NBN, PALB2, RAD50, RAD51C, RAD51D, PTEN, STK11, TP53)
Pan173 Cancro ereditario della mammella e dell’ovaio, essenziale (BRCA1, BRCA2)
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)
Pan107 Cancro renale (EPCAM, FH, FLCN, HNF1A, HNF1B, MET, MITF, MLH1, MSH2, MSH6, PMS1, PMS2, PTEN, SDHB, SDHD, TSC1, TSC2, VHL, WT1)
Pan98 Carcinoma del pancreas (APC, ATM, BMPR1A, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS1, PMS2, PRSS1, SMAD4, STK11)
Pan10 Cardiomiopatia aritmogenica del ventricolo destro (DSP, DSG2, DSC2, JUP, PKP2, RYR2, TGFB3, TMEM43)
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, 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)
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)
Pan223 Cecità notturna congenita stazionaria (CACNA1F, GNAT1, GNB3, GRK1, GRM6, GPR179, LRIT3, NYX, PDE6B, RHO, SAG, SLC24A1, TRPM1)
Pan194 Cherubismo e sua diagnosi differenziale (FMR1, GNAS, NF1, PTPN11, SH3BP2, SOS1)
Pan146 Colestasi e difetti della sintesi degli acidi biliari (ABCB11, ABCB4, ABCD3, ACOX2, AKR1D1, AMACR, ATP8B1, CYP7B1, HSD3B7, NR1H4, TJP2)
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)
Pan175 Convulsioni febbrili e generalized epilepsy with febrile seizures plus [GEFS+] (ADGRV1, CPA6, GABRD, GABRG2, SCN1A,  SCN1B, SCN9A, STX1B)
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] (CTNNA1, EFNB1, ERF, FGFR1, FGFR2, FGFR3, GLI2, GLI3, GPC4, KAT6A, MSX2, POR, RAB23, RECQL4, SOX11, SKI, TFAP2B, TGFBR1, TGFBR2, TWIST1)
Pan216 Cutis laxa (ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, FBLN5,  LTBP4, PYCR1)
Pan245 Deficit congenito di sintesi degli acidi biliari (ABCD3, ACOX2, AKR1D1, AMACR, CYP7B1, HSD3B7)
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)
Pan233 Deficit di lipasi acida lisosomiale (Wolman/CESD and its differential diagnosis )
Pan54 Demenza frontotemporale (CHMP2B, GRN, VCP, FUS, TARDBP, C9orf72 , MAPT, SIGMAR1, UBQLN2)
Pan38 Diabete neonatale (ABCC8, FOXP3, G6PC2, GCK, GLIS3, INS, INSR, KCNJ11, NEUROG3, PDX1)
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)
Pan57 Difetti della glicosilazione (ALG1, ALG2, ALG3, ALG6, ALG8, ALG9, ALG11, ALG12, ALG13, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DOLK, DPAGT1, DPM1, DPM3, MAGT1, MGAT2, MOGS, MPDU1, MPI, PMM2, RFT1, SLC35A1, SLC35C1)
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)
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.)
Pan91 Difetti della migrazione neuronale (ACTB, ACTG1, ARFGEF2, ARX, COL18A1, COL4A1, CPT2, DCX, EMX2, EOMES, FGFR3, FH, FKRP, FKTN, FLNA, ADGRG1, IER3IP1, ISPD, LAMA2, LAMC3, LARGE1, MAPK8IP3, MED12, MEF2C, OCLN, PAFAH1B1, PAX6, PEX7, POMGNT1, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RELN, SNAP29, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3, WDR62)
Pan62 Difetti 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, HNRNPK, NIPBL, KMT2A, KMT2D, KDM6A, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, RAD21)
Pan134 Discheratosi congenita e sua diagnosi differenziale (ACD, CTC1, DKC1, NHP2, NOP10, PARN, POT1, RETL1, SNORD118, TERC, TERT, TINF2, TPP1, WRAP53)
Pan28 Discinesia ciliare primaria (ARMC4, C21ORF59, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, DNAAF1, DNAAF3, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DYX1C1, GAS2L2, GAS8, HEATR2, HYDIN, KTU, LRRC6, NME5, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, TTC25, TXNDC3, ZMYND10)
Pan129 Discinesia/corea familliare (ADYC5, NKX2-1, PRRT2, PNKD, SLC2A1)
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 Dislipidemia 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)
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)
Pan85 Displasia epifiseale multipla (COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2)
Pan240 Displasia fibrosa poliostotica/sindrome di McCune-Albright e sua diagnosi differenziale (GNAS, HRAS, NF1, NRAS, SH3BP2)
Pan80 Displasia metafisaria (ANKH, CDKN1C, FLNA, MMP9, MMP13, NKX3-2, RMRP, RUNX2)
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)
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)
Pan159 Displasie 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, 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)
Pan41 Distonia (GCH1, PNKD, PRRT2, SGCE, SLC2A1, SPR, TH, THAP1, TOR1A, VPS13A, mitochondrial DNA)
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, PROM1, PRPH2, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, TTLL5, UNC119)
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, EFEMP1, ELOVL4, GUCA1A, GUCY2D, IMPG1, IMPG2, KCNV2, PDE6C, PDE6H, PITPNM3, PROM1, PRPH2, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RP1L1, RPGR, RPGRIP1, SEMA4A, TIMP3, TTLL5, UNC119)
Pan69 Distrofia muscolare dei cingoli (ANO5, CAPN3, CAV3, DAG1, DNAJB6, DYSF, FKRP, FKTN, LAMA2, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, SELENON, SGCA, SGCB, SGCD, SGCG, TCAP, TRAPPC11, TRIM32, TTN)
Pan121 Distrofia muscolare di Ullrich (COL6A1, COL6A2, COL6A3)
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)
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)
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 )
Pan46 Encefalopatia epilettica (ACTL6B, 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)
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, GOT2, GNAO1, GRIN2B, GRIN2D, GUF1, HCN1, HNRNPU, ITPA, KCNA2, KCNB1, KCNQ2, KCNT1, MDH2, MYRF, NECAP1, NEUROD2, PCDH19, PHACTR1, PIGA, PIGB, PIGP, PLCB1, PNKP, PRICKLE1, RNF13, SCN1A, SCN1B, SCN2A, SCN8A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A10, SLC25A12, SLC25A22, SLC35A2, SPTAN1, ST3GAL3, STXBP1, SYNJ1, SZT2, TBC1D24, TRAPPC2L, TRAK1, TRIM8, TRPM3, UBA5, WWOX)
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)
Pan220 Epilessia familiare del lobo temporale (CPA6, ETL2, ETL3, ETL4, ETL6, GAL, LGI1)
Pan218 Epilessia familiare focale a loci variabili (DEPDC5, NPR2L, NPR3L, SCN3A)
Pan217 Epilessia familiare mioclonica dell’adulto (ADRA2B, CNTN2, FAME3, FAME4, RAPGEF2, SAMD12, TNRC6A)
Pan221 Epilessia notturna del lobo frontale (CHRNA2, CHRNA4, CHRNB2, ENFL2, KCNT1)
Pan219 Epilessia progressiva mioclonica (CERS1, CSTB, EPM2A, GOSR2, KCNC1, KCTD7, LMNB2, NHLRC1, PRDM8, PRICKLE1, SCARB2)
Pan236 Epilessia, tutti i geni (ADSL, ALDH5A1, ALDH7A1, ALG13, ARHGEF9, ARX, ASNS, ATP1A2, ATP1A3, ATP6AP2, ATRX, BRAT1, CACNA1A, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTNNB1, CTSD, CTSF, DDX3X, DEPDC5, DNAJC5, DNM1, DYRK1A, EEF1A2, EHMT1, EPM2A, FLNA, FOLR1, FOXG1, FRRS1L, GABBR2, GABRA1, GABRB2, GABRB3, GABRG2, GAMT, GATM, GLDC, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, HNRNPU, IQSEC2, KANSL1, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM6A, NEXMIF, LGI1, MAGI2, MBD5, MECP2, MEF2C, MFSD8, NALCN, NGLY1, NHLRC1, NPRL3, NR2F1, NRXN1, PACS1, PCDH19, PIGA, PIGN, PIGO, PIGU, PIGV, PLCB1, PNKP, PNPO, POLG, PPP2R5D, PPT1, PRICKLE1, PRRT2, PURA, QARS, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SLC13A5, SLC19A3, SLC25A22, SLC2A1, SLC6A1, SLC6A8, SLC9A6, SMC1A, SPATA5, SPTAN1, STX1B, STXBP1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TCF4, TPP1, TRPM3, TSC1, TSC2, UBE3A, WDR45, WWOX, ZEB2)
Pan243 Esostosi multiple (EXT1, EXT2)
Pan60 Eterotassia viscerale, tetralogia di Fallot, associazione VATER & VACTERL(ACVR2B, CFC1, CRELD1, GJA1, GDF1, FOXH1, LEFTY2, MMP21, NKX2-5, NODAL, ZIC3)
Pan103 Feocromocitoma (DLST, MAX, PRKAR1A, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL)
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)
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)
Pan205 Fibrosi congenita dei muscoli extraoculari e sua diagnosi differenziale (CHN1, HOXA1, KIF21A, PEO1, PHOX2A, POLG, ROBO3, SALL4, SLC25A4, TMPO, TUBB2B, TUBB3, mtDNA)
Pan181 Fibrosi polmonare familiare (TERT, TERC, SFTPC, SFTPA2)
Pan52 Fleck retina, coroideremia e degenerazione maculare età-correlata (ABCA4, CFH, CFB, CHM, EFEMP1, PLA2G5, RDH5, RLBP1, RS1, TIMP3, VPS13B)
Pan251 Galattosemia (GALE, GALK1, GALM, GALT)
Pan228 Glaucoma primario congenito e sua diagnosi differenziale (CYP1B1, FOXC1, GNAQ, LTBP2, NF1, NHS, OCRL, PAX6, PITX2, SLC4A11, TEK, WT1)
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.)
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)
Pan247 Immunodeficienza comune variabile(CD19, CD81, CR2, ICOS, IKZF1, IL21, IRF2BP2, LRBA, MS4A1, NFKB1, NFKB2, TNFRSF13B, TNFRSF13C)
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)
Pan253 Immunodeficienze autoinfiammatorie (CARD14, IL10RA, IL10RB, IL1RN, IL36RN, ISG15, LPIN2, MEFV, MVK, NLRP12, NLRP3, NOD2, PLCG2, PSMB8, PSTPIP1, RBCK1, SH3BP2, TNFRSF1A)
PanInc Incidentali (ATP7B, BMPR1A, BRCA1, BRCA2, TP53, STK11, MLH1, MSH2, MSH6, PMS2, APC, MUTYH, VHL, MEN1, RET, PTEN, RB1, SDHD, SDHAF2, SDHC, SDHB, TSC1, TSC2, WT1, NF2, COL3A1, FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, MYH11, MYBPC3, MYH7, TNNT2, TNNI3, TPM1, MYL3, ACTC1, PRKAG2, GLA, MYL2, LMNA, SMAD4, OTC, RYR2, PKP2, DSP, DSC2, TMEM43, DSG2, KCNQ1, KCNH2, SCN5A, LDLR, APOB, PCSK9, RYR1, CACNA1S)
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)
Pan51 Infertilità femminile (AR, BMP15, BRCA1, C11orf80, CYP21A2, DHEAST, DIAPH2, FIGLA, FMR1, FOXL2, FSHR, HFM1, LHB, LHCGR, MCMDC1, MCM8, MEI1, NOBOX, NR5A1, POF1B, PSMC3IP, REC114, SHBG, SPAG17, SRD5A1, SRD5A2, STAG3, STX2, TUBB8, WEE2, XRCC2)
Pan73 Infertilità maschile (AR, AZF, CATSPER1, CFTR, DNAH17, FSHR, LHCGR, XRCC2)
Pan204 Insensibilità congenita al dolore (CLTCL1, NGF, NTRK1, PRDM12, SCN9A, SCN11A, HPRT1, IKBKAP, MPV17, ZFHX2)
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)
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)
Pan227 Insufficienza ovarica precoce (BMP15, DIAPH2, ERCC6, FANCM, FIGLA, FLJ22792, FOXL2, GDF9, HFM1, MCM8, MSH5, NOBOX, NR5A1, POLR3H, STAG3, SYCE1, TP63)
Pan145 Iperaldosteronismo familiare e sua diagnosi differenziale (CACNA1D, CACNA1H, CYP11B1, CYP11B1/CYP11B2 fusion gene, CLCN2, HSD11B2, KCNJ5, NR3C1, NR3C2, SCNN1B, SCNN1G)
Pan49 Ipercolesterolemia familiare e altri difetti del metabolismo lipoproteico (APOB, LDLR, PCSK9, APOE, LRP6, ABCG5, ABCG8)
Pan64 Iperecplessia (ARHGEF9, GLRA1, GLRB, GPHN, SLC6A5)
Pan176 Iperinsulinismo familiare (ABCC8, KCNJ11, GLUD1, GCK, HK1, HADH, HNF4A, HNF1A, INSR, SLC16A1, UCP2)
Pan229 Iperossaluria primaria (AGXT, GRHPR, HOGA1)
Pan74 Ipertermia maligna (CACNA1S, TRPV1, RYR1)
Pan148 Ipoparatiroidismo ereditario, isolato (PTH, GCM2, CASR)
Pan200 Ipoplasia cartilagine-capelli, displasia aneuxetica e loro diagnosi differenziale (COL10A1, DCLRE1C, ELANE, G6PC3, PTH1R, RAG1, RAG2, RMRP, SBDS, SMARCAL1, WAS)
Pan208 Ipoplasia dermica focale e sua diagnosi differenziale (HCCS, IKBKG , PORCN, RECQL4, TP63)
Pan105 Ipoplasia pontocerebellare, classico (CASK, CHMP1A, EXOSC3, RARS2, SEPSECS, TSEN2, TSEN34, TSEN54, VRK1)
Pan136 Ipoplasia pontocerebellare, esteso (AMPD2, CASK, CHMP1A, CLP1, EXOSC3, EXOSC8, PCLO, RARS2, SEPSECS, TSEN15, TSEN2, TSEN34, TSEN54, VPS53, VRK1)
Pan33 Ittiosi congenita (ABCA12, ABHD5, ALOX12B, ALOXE3, CASP14, CERS3, CYP4F22, FATP4, LIPN, NIPAL4, PNPLA1, SDR9C7, ST14, SULT2B1, TGM1)
Pan1 Leucemia mieloide acuta (ARHGEF12, CBFB, CEBPA, FLT3, GATA2, JAK2, KIT, LPP, NPM1, NPM1, NSD1, PICALM, RUNX1, SH3GL1, TERT)
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)
Pan168 Linfedema ereditario e altre condizioni con linfedema (CCBE1, FAT4, FLT4, FOXC2, GATA2, GJC2, KIF11, SOX18, VEGFC)
Pan58 Linfoistiocitosi emofagocitica primaria e sua diagnosi differenziale (PRF1, UNC13D, STX11, STXBP2, RAB27A, XIAP, SH2D1A, LYST)
Pan26 Lipofuscinosi ceroide neuronale (ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1)
Pan70 Lissencefalia (APC2, ARX, CDK5, DCX, KATNB1, MDLS, NDE1, KATNB1, KIF2A, KIF5C, LAMB1, PAFAH1B1, POMT1, POMT2, RELN, TMTC3, TUBA1A, TUBB2A, TUBB2B, TUBB, TUBB3, TUBG1, TUBA8)
Pan75 Malattia delle urine a sciroppo d’acero (BCKDHA, BCKDHB, DBT, DLD)
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)
Pan198 Malattia di Camurati-Engelman e sua diagnosi differenziale (FAM111A, LRP5, SOST, TBXAS1, TGFB1, TNFRSF11B)
Pan199 Malattia di Canavan e sua diagnosi differenziale (AMT, ARSA, ASPA, GCDH, GCSH, GFAP, GLDC, HEXA, mtDNA)
Pan61 Malattia di Hirschsprung, non sindromica, suscettibilità a (ECE1, EDN3, EDNRB, GDNF, NRG1, NRG3, NRTN, RET)
Pan210 Malattia di Niemann-Pick (NPC1, NCPC2, SMPD1 )
Pan106 Malattia di Refsum  (PEX1, PEX2, PEX26, PEX7, PHYH)
Pan115 Malattia di Stargardt (ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, PROM1, PRPH2, RP1L1, RPGR, TIMP3, RIMS1)
Pan222 Malattia granulomatosa cronica (CYBA, CYBB, CYBC1, NCF1, NCF2, NCF4)
Pan169 Malattia Leventinese [o Drusen radiali dominanti o distrofia retinica a favo di Doyne] e sua diagnosi differenziale (ABCA4, BEST1, CFB, CFH, EFEMP1, TIMP3)
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)
Pan72 Malattie da accumulo lisosomiale [incl. mucopolisaccaridosi, mucolipidosi e alfa-mannosidosi] (ARSA, FUCA1, GALC, GBA, GLB1, GNPTAB, GUSB, HEXA, HEXB, MAN2B1, MANBA, NAGA, SMPD1)
Pan117 Malattie del metabolismo del surfattante (ABCA3, CSF2RA, CSF2RB, SFTPA1, SFTPB, SFTPC, SFTPD)
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)
Pan133 Microangiopatia cerebroretinica con calcificazioni e cisti – sindrome Coats plus – e sua diagnosi differenziale (CTC1, POT1, SNORD118, SLC20A2, PDGFRB, PDGFB)
Pan183 Microcefalia primaria (MFSD2A, STIL, SASS6, ASPM, KIF14, NCAPH, COPB2, CEP135, WDFY3, CENPE, CDK6, MCPH1, CDK5RAP2, NCAPD3, NCAPD2, PHC1, CIT, ANKLE2, CENPJ, KNL1, CEP152, WDR62, ZNF335)
Pan184 Microcefalia 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] (ADAR, AIMP1, AIMP2, ARCN1, ARFGEF2, ARX, ASNS, ATR, ATRX, BRCA1, BUB1B, C2CD3, CASK, CCDC88A, CDC45L, CDC6, CDK5, CDT1, CENPF, CENPJ, CEP152, CEP57, CEP63, CKAP2L, CNOT2, CREBBP, CRIPT, DCPS, DCX, DDX11, DHCR7, DIAPH1, DNA2, DONSON, DPF2, DYNC1I2, EHMT1, EIF2S3, EP300, EPRS, FAM126A, FOXG1, GEMIN4, GJC2, GMNN, HDAC8, HIKESHI, HSPD1, IER3IP1, IFIH1, KATNB1, KATNB1, KDM6A, KIF11, KIF2A, KIF5C, KMT2D, LAGE2, LAMB1, LIG4, MASP1, MCM5, MDLS, MECP2, MED17, MEIS2, METTL5, MIR17HG, MRE11A, MSMO1, MYCN, NBN, NDE1, NDE1, NHEJ1, NIN, NIPBL, NSDHL, NSMCE2, OCLN, OFD1, ORC1, ORC4, ORC6, OSGEP, PAFAH1B1, PCDH12, PCNT, PHGDH, PLAA, PLEKHG2, PLK4, PLP1, PNKP, POL3A, POLR1C, POLR3B, PPP1R15B, PQBP1, PRUNE1, PSAT1, PYCR2, QARS, RAB18, RAB3GAP1, RAB3GAP2, RAD21, RAD50, RARS, RBBP8, RECQL3, RELN, RNASEH2A, RNASEH2B, RNASEH2C, RNU4ATAC, RTTN, SAMHD1, SARS, SLC1A4, SLC25A19, SLC2A1, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, STAMPB, TBC1D20, TELO2, THOC6, TMEM106B, TMTC3, TP53RK, TPRKB, TRAIP, TRAPPC12, TRAPPC6B, TREX1, TRIP13, TRMT10A, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, UBE3B, UFM1, USP18,  USP7, VARS, VPS11, VPS13B, VPS51, WDR73, XRCC2, XRCC4, ZEB2)
Pan244 Miopatia centronucleare  (BIN1, DNM2, CCDC78, MTM1, MTMR14, MYF6, PLAGL1, SPEG, RYR1)
Pan201 Miopatia congenita central core e sua diagnosi differenziale (ACTA1, CFL2, MYH7, RYR1, SELENON, TNNT1)
Pan16 Miopatia di Bethlem (COL6A1, COL6A2, COL6A3, COL12A1)
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)
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.)
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)
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, FXr1, GAA, 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, 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)
Pan239 Miopia (ARR3, CCDC111, CPSF1, HS6ST2, LRPAP1, P4HA2, SCO2, SLC39A5, ZNF644)
Pan83 MODY (ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KLF11, NEUROD1, PAX4, PDX1, RFX6, ZFP57)
Pan101 Morbo di Parkinson (ATP13A2, DNAJC6, FBXO7, LRRK2, NOTCH2NLC, PARK7, PINK1, PLA2G6, PRKN, SNCA, VPS35, )
Pan143 Morte 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, 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, SEMA3A, SLMAP, SNTA1, TCAP, TGFB3, TGFBR2, TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, VCL)
Pan215 Mucolipidosi (GNPTAB, GNPTG, MCOLN1 )
Pan84 Mucopolisaccaridosi (ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, IDS, IDUA, NAGLU, SGSH)
Pan88 Nefronoftisi (ADAMTS9, NPHP1, INVS, NPHP3, NPHP4, IQCB1, CEP290, GLIS2, RPGRIP1L, NEK8, SDCCAG8)
Pan100 Neurodegenerazione con accumulo cerebrale di ferro [NBIA] (ATP13A2, C19orf12, COASY, CP, CRAT, DCAF17, FA2H, FTL, PANK2, PLA2G6, REPS1, WDR45)
Pan90 Neurofibromatosi (NF1, NF2, SPRED1)
Pan209 Neuropatia ad assoni giganti e sua diagnosi differenziale (ARSA, ATP7A, EGR2GAN, GDAP1, MTMR2, PLA2G6, SBF1, SBF2, SH3TC2)
Pan188 Neuropatia autonomica e sensoriale (ATL1, ATL3, DNMT1, DST, ELP1, KIF1A, NGF, NTRK1, PRDM12, RETREG1, SCN11A, SCN9A, SPTLC1, SPTLC2, WNK1)
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, SPG11, SPTLC1, SPTAN1, TRIM2, TRPV4, VCP, WARS, YARS)
Pan179 Neutropenia congenita severa (CSF3R, ELANE, G6PC3, GFI1, HAX1, JAGN1, VPS45, WAS)
Pan140 Non compattazione del ventricolo sinistro (ACTC1, ACTN2, CSRP3, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, NNT, PKP2, PLN, RYR2, SGCD, TAZ, TCAP, TNNT2, TPM1)
Pan147 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)
Pan94 Oftalmoplegia esterna progressiva (ACADS, DNA2, DGUOK, MGME1, OPA1, POLG, POLG2, RNASEH1, RRM2B, RYR1, SLC25A4, TK2, TWNK, VARS2, mtDNA)
Pan63 Oloprosencefalia (CDON, FGF8, GLI2, GLI3, PTCH1, SHH, SIX3, TGIF1, ZIC2)
Pan96 Osteogenesi 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)
Pan97 Osteopetrosi (CA2, CLCN7, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFSF11, TNFRSF11A)
Pan99 Pancreatite (PRSS1, SPINK1, CFTR, CTRC)
Pan235 Paralisi periodica, ipercalemica, ipocalemica, tireotossica, e sindrome di Andersen-Tawil (CACNA1S, KCNJ18, KCNJ2, RYR1, SCN4A)
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, TECPR2, TFG, UBAP1, UCHL1, VPS37A, WASHC5, ZFYVE26, ZFYVE27)
Pan211 Poichilodermia (FAM111B, FERMT1, RECQL4, USB1)
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)
Pan226 Porencefalia e schizencefalia (COL4A1, COL4A2, EMX2, SHH, SIX3)
Pan206 Porfiria, spettro della (ALAD, ALAS2, CPOX, FAH, FECH, GATA1, HFE, HMBS, PPOX, UROD, UROS)
Pan150 Pseudoipoaldosteronismo (CUL3, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4)
Pan230 Pseudoxanthoma elasticum (ABCC6, ENNP1, GGCX)
Pan131 Rachistismo ipofostatemico (PHEX, CLCN5, FGF23, DMP1, ENPP1, SLC34A3)
Pan104 Rene policistico e sua diagnosi differenziale, classico (HNF1B, LRP5, PAX2, PKD1, PKD2, PKHD1, PRKCSH, SEC63, UMOD, VHL)
Pan241 Resistenza all’ormone tiroideo e ipotiroidismo congenito senza gozzo (NKX2-5, PAX8, THRA, THRB, TSHB, TSHR )
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)
Pan108 Retinite pigmentosa, esteso (ABCA4, AGBL5, AHR, AIPL1, ARL2BP, ARL3, ARL6, BBS2, BEST1, C2ORF71, C8ORF37, CA4, CDHR1, CERKL, CLRN1, CNGA1, CNGB1, CRB1, CRX, CYP4V2, DHDDS, DHX38, EYS, FAM161A, FSCN2, GUCA1B, HGSNAT, IDH3B, IMPDH1, IMPG2, IFT140, IFT172, IFT43, 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)
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)
Pan120 Scelrosi tuberosa (TSC1, TSC2)
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)
Pan189 Sequenza acinesia fetale e sindrome degli pterigi multipli [incl. sindrome di Escobar] (CHRNA1, CHRND, CHRNG, CNTN1, DOK7, NUP88, RAPSN, SLC18A3, SYNE1)
Pan114 Sferocitosi ereditaria (ANK1, EPB42, SLC4A1, SPTA1, SPTB)
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)
Pan24 Sindrome da ipoventilazione centrale (RET, GDNF, EDN3, BDNF, ASCL1, PHOX2A, PHOX2B, ZEB2, GFRA1, ECE1, MECP2)
Pan170 Sindrome del nevo basocellulare [sindrome di Gorlin o Gorlin-Goltz] (PTCH1, PTCH2, SUFU)
Pan71 Sindrome del QT lungo (AKAP9, ANK2, CACNA1C, CALM1, CALM2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SCN10A, SNTA1)
Pan102 Sindrome della febbre periodica (ELANE, LPIN2, MEFV, MVK, NLRP3, PSTPIP1, TNFRSF1A)
Pan149 Sindrome di Adams-Oliver (ARHGAP31, DOCK6, DLL4, EOGT, ITGB4, NOTCH1, PLEC, RBPJ)
Pan2 Sindrome di Aicardi-Goutières (ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1)
Pan132 Sindrome di Allan-Herndon-Dudley e sua diagnosi differenziale (ABCD1, ASPA, ARSA, GALC, MECP2, PLP1, SLC16A2, SMS)
Pan4 Sindrome di Alport, di Epstein e di Fechtner (COL4A3, COL4A4, COL4A5, MYH9)
Pan190 Sindrome di Baller-Gerold e sua diagnosi differenziale (ESCO2, RECQL4, SALL4, TBX5, TWIST)
Pan14 Sindrome 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)
Pan15 Sindrome di Bartter (BSND, CASR, CLCNKA, CLCNKB, KCNJ1, SLC12A1, SLC12A3)
Pan191 Sindrome di Bohring-Opitz e sua diagnosi differenziale (ASXL1, ASXL2, ASXL3, CD96, HDAC8, KLHL7, NIPBL, RAD21, SMC1A, SMC3)
Pan18 Sindrome di Brugada (CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, TRPM4, SCN1B, SCN3B, SCN5A)
Pan192 Sindrome di Burn-McKeown e sindrome di Treacher-Collins (POLR1C, POLR1D, TCOF1, TXNL4A)
Pan19 Sindrome 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)
Pan203 Sindrome di Coffin-Lowry e sua diagnosi differenziale (ATRX, ELN, MED12, PHF6, RPS6KA3, TCF4 )
Pan30 Sindrome di Coffin-Siris (ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX4, SOX11)
Pan35 Sindrome di Cornelia de Lange (HDAC8, NIPBL, RAD21, SMC1A, SMC3)
Pan40 Sindrome di Dravet (SCN1A, GABRG2, SCN2A, SCN9A)
Pan43 Sindrome di Ehlers-Danlos, sindrome di Marfan, aneurisma aortico familiare e arterial tortuosity syndrome (ACTA2, CBS, COL3A1, COL5A1, COL5A2, DLG4, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, PLOD1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB)
Pan207 Sindrome di Floating-Harbor  e sua diagnosi differenziale (CCDC8 , CREBBP, CUL7, EP300, OBSL1, SRCAP)
Pan196 Sindrome di Griscelli e malattia da sovraccarico di acido sialico infantile (MLPH, MYO5A, RAB27A, SLC17A5)
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)
Pan135 Sindrome di Joubert & Meckel-Gruber, esteso (AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP104, CEP290, CEP41, CSPP1, INPP5E, KIAA0556, KIAA0586, KIF7, KIF14, MKS1, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423)
Pan65 Sindrome di Kallmann e altre forme di ipogonadismo ipogonadotropo con o senza anosmia (CHD7, DCC, DUSP6, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, GNRH1, GNRHR, HS6ST1, IL17RD, KAL1, KISS1, KISS1R, LHB, NSMF, NTN1, PROK2, PROKR2, SEMA3A, SPRY4, TAC3, TACR3, WDR11)
Pan67 Sindrome di Leigh/NARP e loro diagnosi differenziale (ADAR1, BCS1L, BTD, C12orf65, C20ORF7, C8ORF38, COX10, COX15, COX4I1, 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)
Pan76 Sindrome di Marfan e malattie correlate (ACTA2, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1, TGFBR2)
Pan185 Sindrome di Meier-Gorlin e nanismo primordiale microcefalico (ORC1, ORC4, GMNN, ORC6, CDT1, CDC6, CDC45L, MCM5, PCNT, RNU4ATAC)
Pan197 Sindrome di Moebius (PLXND1, ​REV3L )
Pan249 Sindrome di Moebius (PLXND1, REV3L, TUBB3)
Pan92 Sindrome di Noonan, LEOPARD, Costello e CFC, classico (BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RRAS2, SHOC2, SOS1, SPRED1)
Pan139 Sindrome 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)
Pan225 Sindrome di Perrault (CLPP, ERAL1, HARS2, HSD17B4, LARS2,  TWNK)
Pan130 Sindrome di Rett e simil-Rett (MECP2, FOXG1, CDKL5, MEF2C, TCF4, GABRD, GRIN1, WDR45, SMC1A.)
Pan246 Sindrome di Rubinstein-Tayibi (CREBBP, EP300)
Pan111 Sindrome di Seckel (ATR, RBBP8, CENPJ, CEP152, CEP63)
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, 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)
Pan116 Sindrome di Stickler (BMP4, COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, LOXL3)
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)
Pan125 Sindrome di Waardenburg (EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR)
Pan126 Sindrome di Walker-Warburg (FKRP, FKTN, ISPD, LARGE1, POMT1, POMT2)
Pan163 Sindrome di Weill-Marchesani e Weill-Marchesani-like (ADAMTS10, ADAMTS17, FBN1, LTBP2)
Pan127 Sindrome di Zellweger (PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26)
Pan250 Sindrome di Zimmermann-Laband (ATP6V1B2, KCNH1, KCNN3)
Pan89 Sindrome nefrotica/glomerulosclerosi segmentale focale (LAMB2, NPHS1, NPHS2, PLCE1, WT1, ACTN4, CD2AP, INF2, TRPC6)
Pan109 Sindrome 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.)
Pan193 Sindromi branchiootiche e branchiootorenali (EYA1, SIX1, SIX5)
Pan160 Sindromi da deplezione del DNA mitocondriale (AGK, DGUOK, FBXL4, MGME1, MPV17, OPA1, POLG, RRM2B, SLC25A4, SUCLA2, SUCLG1, TFAM, TK2, TWNK.)
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)
Pan234 Sindromi linfoproliferative X-linked e autosomiche (CD27, ITK, SH2D1A, XIAP)
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)
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)
Pan36 Sordità 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, SSBP1, STRC, TBC1D24, TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, WFS1, mtDNA)
Pan137 Sordità 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, DFNB59, DIABLO, DIAPH1, DIAPH3, DMXL2, DSPP, ELMOD3, EPS8, ESPN, ESRRB, EYA4, FAM189A2, 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, PNPT1, POU3F4, POU4F3, PRPS1, PTPRQ, RAI1, RDX, RIPOR2, 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)
Pan23 Tachicardia ventricolare polimorfica catecolaminergica (RYR2, CASQ2, KCNJ2)
Pan214 Tricotiodistrofia (ERCC2, ERCC3, GTF2E2, GTF2H5, MPLKIP, RNF113A)
Pan118 Trombocitopenia (ASXL1, CALR, JAK2, SH2B3, TET2, THPO, SF3B1 , SH2B3)
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)
Pan112 Tumori della pelle (CDKN2A, EPCAM, MC1R, MITF, MLH1, MSH2, MSH6, PMS1, PMS2, PTCH1, XRCC3)
Pan124 Vitreoretinopatia e sindrome di Wagner (COL2A1, FZD4, LRP5, NDP, TSPAN12, VCAN)
Pan202 Xantomatosi cerebrotendinea e sua diagnosi differenziale (ABCG5, ABCG8, APOB, APOE, CYP27A1, LDLR, LDLRAP1, LPL, PCSK9 )
Pan213 Xeroderma pigmentoso e sua diagnosi differenziale (DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, GTF2E2, GTF2H5, MPLKIP, POLH, RECQL4 , SLC6A19, UVSSA, XPA, XPC)