List of Panels

Panels immediately available for testing at Breda Genetics. Incidental findings: upon request

>>> Panel list version: 9.9.5 – updated on: 10th March 2021 <<<

CodePanel
Pan1Acute myeloid leukemia (ARHGEF12, CBFB, CEBPA, FLT3, GATA2, JAK2, KIT, LPP, NPM1, NPM1, NSD1, PICALM, RUNX1, SH3GL1, TERT)
Pan149Adams-Oliver syndrome (ARHGAP31, DOCK6, DLL4, EOGT, ITGB4, NOTCH1, PLEC, RBPJ)
Pan2Aicardi-Goutières syndrome (ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1)
Pan3Albinism & Hermansky-Pudlak syndrome (AP3B1, BLOC1S3, BLOC1S5, BLOC1S6, C10ORF11, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, MC1R, MLPH, MITF, MYO5A, OCA2, RAB27A, SLC45A2, TYR, TYRP1.)
Pan132Allan-Herndon-Dudley syndrome and its differential diagnosis (ABCD1, ASPA, ARSA, GALC, MECP2, PLP1, SLC16A2, SMS)
Pan4Alport syndrome, Epstein syndrome and Fechtner syndrome (COL4A3, COL4A4, COL4A5, MYH9)
Pan5Alzheimer disease and other dementias (APOE, APP, C9orf72, CHMP2B, CSF1R, FUS, GRN, IL1RAP, MAPT, NOTCH2NLC, PRNP, PSEN1, PSEN2, SIGMAR1, SORL1, TARDBP, TREM2, UBE3A, UBQLN2, VCP)
Pan6Amyotrophic lateral sclerosis (ALS2, ANG, ATXN2, C9orf72, CHMP2B, CHGB, DCTN1, FIG4, FUS, GLT8D1, NEFH, OPTN, PFN1, PRPH2, SETX, SIGMAR1, SOD1, SPG20, TARDBP, UBQLN2, VAPB, VCP, VEGFA)
Pan162Anemia, congenital (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)
Pan7Anophthalmia, microphthalmia isolated/syndromic (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)
Pan8Aortic aneurysm, familial thoracic (ACTA2, COL3A1, FBN1, FBN2, FOXE3, LOX, LTBP3, MFAP5, MYH11, MYLK, PRKG1, SLC2A10, SMAD3, SMAD4, TGFBR1, TGFBR2, TGFB2, THSD4)
Pan9Arrhythmia, hereditary (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)
Pan10Arrhythmogenic right ventricular cardiomyopathy (DSP, DSG2, DSC2, JUP, PKP2, RYR2, TGFB3, TMEM43)
Pan11Arthrogryposis, distal, and other limb contractures (ADCY6, BEST3, ECEL1, ERGIC1, FBN1, FBN2, MYBPC1, NALCN, MYH3, MYH8, PIEZO2, TNNI2, TNNT3, TPM2, VIPAS39)
Pan12Ashkenazi (GBA, CFTR, HEXA, IKBKAP, ASPA, G6PC, ABCC8, MCOLN1, BCKDHB, FANCC, DLD, SMPD1, CLRN1, PCDH15, BLM, NEB, BRCA1, BRCA2)
Pan93Ataxia-oculomotor apraxia (APTX, MAG, PIK3R5, SETX, PNKP)
Pan13Autism spectrum disorders (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)
Pan253Autoinflammatory immunodeficiencies (CARD14, IL10RA, IL10RB, IL1RN, IL36RN, ISG15, LPIN2, MEFV, MVK, NLRP12, NLRP3, NOD2, PLCG2, PSMB8, PSTPIP1, RBCK1, SH3BP2, TNFRSF1A)
Pan190Baller-Gerold syndrome and its differential diagnosis (ESCO2, RECQL4, SALL4, TBX5, TWIST)
Pan14Bardet-Biedl syndrome (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)
Pan15Bartter syndrome (BSND, CASR, CLCNKA, CLCNKB, KCNJ1, SLC12A1, SLC12A3)
Pan170Basal cell nevus syndrome [Gorlin or Gorlin-Goltz syndrome] (PTCH1, PTCH2, SUFU)
Pan16Bethlem myopathy (COL6A1, COL6A2, COL6A3, COL12A1)
Pan191Bohring-Opitz syndrome and its differntial diagnosis (ASXL1, ASXL2, ASXL3, CD96, HDAC8, KLHL7, NIPBL, RAD21, SMC1A, SMC3)
Pan177Bone marrow failure (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)
Pan193Branchiootic and branchiootorenal syndromes (EYA1, SIX1, SIX5)
Pan17Breast and ovarian cancer, hereditary (ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, MRE11A, NBN, PALB2, RAD50, RAD51C, RAD51D, PTEN, STK11, TP53)
Pan173Breast-ovarian cancer, essential (BRCA1, BRCA2)
Pan18Brugada syndrome (CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, TRPM4, SCN1B, SCN3B, SCN5A)
Pan192Burn-McKeown syndrome and Treacher-Collins syndrome (POLR1C, POLR1D, TCOF1, TXNL4A)
Pan198Camurati-Engelman disease and its differential diagnosis (FAM111A, LRP5, SOST, TBXAS1, TGFB1, TNFRSF11B)
Pan199Canavan Disease and its differential diagnosis (AMT, ARSA, ASPA, GCDH, GCSH, GFAP, GLDC, HEXA, mtDNA)
Pan19Cantú syndrome, Berardinelli-Seip syndrome and their differential diagnosis [incl. mucopolysacchcaridosis I, II, IVA, mucolipidosis III, and alpha-mannosidosis and Beckwith-Wiedemann syndrome] (ABCC9, KCNJ8, AGPAT2, BSCL2, CDKN1C, IDUA, IDS, GALNS, GNPTAB, GNPTG, MAN2B1)
Pan20Cardiomyopathy, dilated (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)
Pan21Cardiomyopathy, hypertrophic (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)
Pan200Cartilage-hair hypoplasia – anauxetic dysplasia spectrum disorders (COL10A1, DCLRE1C, ELANE, G6PC3, PTH1R, RAG1, RAG2, RMRP, SBDS, SMARCAL1, WAS)
Pan22Cataract, isolated, classic (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)
Pan152Cataract, isolated, extended (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)
Pan23Catecholaminergic polymorphic ventricular tachycardia (RYR2, CASQ2, KCNJ2)
Pan201Central core disease and its differential diagnosis (ACTA1, CFL2, MYH7, RYR1, SELENON, TNNT1)
Pan24Central hypoventilation syndrome (RET, GDNF, EDN3, BDNF, ASCL1, PHOX2A, PHOX2B, ZEB2, GFRA1, ECE1, MECP2, LBX1)
Pan244Centronuclear myopathy (BIN1, DNM2, CCDC78, MTM1, MTMR14, MYF6, PLAGL1, SPEG, RYR1)
Pan25Cerebellar ataxia (ADCK3, APTX, COQ2, COQ9, DNMT1, FXN, PDSS1, PDSS2, POLG, RNU12, SACS, SETX, SYNE1, TTPA, VLDLR)
Pan133Cerebroretinal microangiopathy with calcifications and cysts – Coats plus syndrome – and its differential diagnosis (CTC1, JAM2, POT1, SNORD118, SLC20A2, PDGFRB, PDGFB)
Pan202Cerebrotendinous xanthomatosis and its differential diagnosis (ABCG5, ABCG8, APOB, APOE, CYP27A1, LDLR, LDLRAP1, LPL, PCSK9 )
Pan27Charcot-Marie-Tooth neuropathy (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)
Pan194Cherubism and its differential diagnosis (FMR1, GNAS, NF1, PTPN11, SH3BP2, SOS1)
Pan146Cholestasis and bile acid synthesis defect (ABCB11, ABCB4, ABCD3, ACOX2, AKR1D1, AMACR, ATP8B1, CYP7B1, HSD3B7, LSR, MYO5B, NR1H4, USP53, TJP2)
Pan195Chondrodysplasia punctata and its differential diagnosis, excl. Zellweger syndrome (AGPS, ARSE, DHCR7, EBP, GGCX, GLB1, GNPAT, GNPTAB, GNS, HGSNAT, MGP, NAGLU, NSDHL, PEX7, SGSH, SUMF1, VKORC1)
Pan222Chronic granulomatous disease (CYBA, CYBB, CYBC1, NCF1, NCF2, NCF4)
Pan267Cicardian rhythm variations (ARNTL, ARNTL2, BHLHE40, BHLHE41, CLOCK, CRY1, CRY2, CSNK1E, CSNK2A1, DEC2, FBXL3, FBXL21, NFIL3, NR1D1, NR1D2, PER1, PER2, PER3, RORA, RORB, RORC, TIMELESS)
Pan203Coffin-Lowry syndrome and its differential diagnosis (ATRX, ELN, MED12, PHF6, RPS6KA3, TCF4 )
Pan30Coffin-Siris syndrome (ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX4, SOX11)
Pan31Colon & gastric cancer, with/without polyposis (APC, BMPR1A, CDH1, MLH1, MLH3, MSH2, MSH6, MUTYH, NTHL1, PMS1, PMS2, PTEN, SMAD4, STK11, EPCAM)
Pan247Common variable immunodeficiency (CD19, CD81, CR2, ICOS, IKZF1, IL21, IRF2BP2, LRBA, MS4A1, NFKB1, NFKB2, TNFRSF13B, TNFRSF13C)
Pan32Cone-rod and cone dystrophy (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)
Pan257Congenital adrenal hyperplasia (CYP11B1, CYP21A2, CYP17A1, HSD3B2, POR, STAR)
Pan245Congenital bile acid synthesis defect (ABCD3, ACOX2, AKR1D1, AMACR, CYP7B1, HSD3B7)
Pan57Congenital disorders of glycosylation (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)
Pan187Congenital disorders of glycosylation, experimental (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)
Pan205Congenital fibrosis of the extraocular muscles and its differential diagnosis (CHN1, HOXA1, KIF21A, PEO1, PHOX2A, POLG, ROBO3, SALL4, SLC25A4, TMPO, TUBB2B, TUBB3, mtDNA)
Pan33Congenital ichthyosis (ABCA12, ABHD5, ALOX12B, ALOXE3, CASP14, CERS3, CYP4F22, FATP4, LIPN, NIPAL4, PNPLA1, SREBF1, SDR9C7, ST14, SULT2B1, TGM1)
Pan204Congenital insensitivity to pain (CLTCL1, NGF, NTRK1, PRDM12, SCN9A, SCN11A, HPRT1, IKBKAP, MPV17, ZFHX2)
Pan34Congenital myasthenic syndrome (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)
Pan223Congenital stationary night blindness (CACNA1F, GNAT1, GNB3, GRK1, GRM6, GPR179, LRIT3, NYX, PDE6B, RHO, RIMS2, SAG, SLC24A1, TRPM1)
Pan35Cornelia de Lange syndrome (ANKRD11, EP300, HDAC8, NIPBL, RAD21, SMC1A, SMC3, MAU2)
Pan142Craniosynostosis, including FGFR-related craniosynostosis and their differential diagnosis and new craniosynostosis genes [incl. Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans, Muenke syndrome, Saethre-Chotzen syndrome, Baller-Gerold syndrome, Carpenter syndrome, Cole-Carpenter syndrome 1, craniofrontonasal syndrome, Greig cephalopolysyndactyly, Shprintzen-Goldberg syndrome, Boston-type craniosynostosis, Loeys-Dietz Syndrome, Robinow-Sorauf syndrome, Meier-Gorlin syndrome 7, cranioectodermal dysplasia, 3MC syndrome, Fontaine progeroid syndrome, Hamamy syndrome, Curry-Jones syndrome, Sweeney-Cox syndrome and others](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)
Pan216Cutis laxa (ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, FBLN5, LTBP4, PYCR1)
Pan164Cystic fibrosis and its differential diagnosis (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)
Pan137Deafness, non-syndromic sensorineural autosomal dominant/recessive/X-linked/mitochondrial, extended (ACTG1, ADCY1, AIFM1, ATOH1, 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, MITF, MSRB3, MYH14, MYH9, MYO1A, MYO15A, MYO3A, MYO6, MYO7A, NLRP3, OSBPL2, OTOA, OTOF, OTOG, P2RX2, PCDH15, PNPT1, POU3F4, POU4F3, PRPS1, PSIP1, PTPRQ, RAI1, RDX, RIPOR2, S1PR2, SERPINB6, SIX1, SLC12A2, SLC17A8, SMPX, SLC26A4, SLC26A5, SPATC1L, STRC, TBC1D24, SYNE4, TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TMTC2, TNC, TPRN, TRIOBP, TSPEAR, USH1C, USP48, WFS1, WHRN, mtDNA)
Pan36Deafness, non-syndromic sensorineural autosomal dominant/recessive/X-linked/mitocondrial, classic (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, MITF, MSRB3, MYH14, MYH9, MYO1A, MYO15A, MYO3A, MYO6, MYO7A, NLRP3, OTOA, OTOF, OTOG, P2RX2, PCDH15, PNPT1, POU3F4, POU4F3, PRPS1, PSIP1, PTPRQ, RAI1, RDX, RIPOR2, SERPINB6, SIX1, SLC12A2, SLC17A8, SMPX, SLC26A4, SLC26A5, SSBP1, STRC, TBC1D24, TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, WFS1, mtDNA)
Pan261Dementia with Lewy bodies (APOE, GBA, CYP2D6, LRRK2, PRNP, PSEN2, SNCA, SNCB)
Pan37Dense deposit disease, membranoproliferative glomerulonephritis II, atypical hemolytic uremic syndrome & thrombotic thrombocytopenic purpura (ADAMTS13, C3, CD46, CFB, CFHR1, CFHR3, CFHR4, CFHR5, CFH, CFI, DGKE, LMNA, LCAT, THBD.)
Pan38Diabetes neonatal (ABCC8, EIF2B1, FOXP3, G6PC2, GCK, GLIS3, INS, INSR, KCNJ11, NEUROG3, PDX1)
Pan39Diamond-Blackfan anemia (GATA1, RPL11, RPL35A, RPL5, RPL15, RPL26, RPL27, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2)
Pan264Diarrhea, congenital, chronic (DGAT1, EPCAM, GUCY2C, MYO5B, NEUROG3, PERCC1, PLVAP, SLC26A3, SLC9A3, SPINT2, STX3, STXBP2, WNT2B)
Pan157Distal myopathies (ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, SQSTM1, TCAP, TIA1, TTN, VCP)
Pan40Dravet syndrome (SCN1A, GABRG2, SCN2A, SCN9A)
Pan134Dyskeratosis congenita and its differential diagnosis (ACD, CTC1, DKC1, NHP2, NOP10, PARN, POT1, RETL1, SNORD118, TERC, TERT, TINF2, TPP1, WRAP53)
Pan171Dyslipidemia (ABCA1, ABCG5, ABCG8, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOC3, APOE, CETP, CYP27A1, LCAT, LDLR, LDLRAP1, LIPA, LIPC, LMF1, LPL, MTTP, PCSK9, SAR1B, SLCO1B1)
Pan172Dyslipidemia and obesity, syndromic and nonsyndromic (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)
Pan41Dystonias (GCH1, PNKD, PRRT2, SGCE, SLC2A1, SPR, TH, THAP1, TOR1A, VPS13A, mitochondrial DNA)
Pan42Early infantile epileptic encephalopathy (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)
Pan180Ectodermal dysplasia (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)
Pan43Ehlers-Danlos syndrome, Marfan syndrome, Familial Thoracic Aortic Aneurysm Dissection & 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)
Pan44Epidermolysis 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)
Pan217Epilepsy familial adult myoclonic (ADRA2B, CNTN2, FAME3, FAME4, RAPGEF2, SAMD12, TNRC6A)
Pan218Epilepsy familial focal with variable foci (DEPDC5, NPR2L, NPR3L, SCN3A)
Pan219Epilepsy progressive myoclonic (CERS1, CSTB, EPM2A, GOSR2, KCNC1, KCTD7, LMNB2, NHLRC1, PRDM8, PRICKLE1, SCARB2)
Pan236Epilepsy, all genes (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)
Pan220Epilepsy, familial temporal lobe (CPA6, ETL2, ETL3, ETL4, ETL6, GAL, LGI1)
Pan45Epilepsy, hereditary (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)
Pan221Epilepsy, nocturnal frontal lobe (CHRNA2, CHRNA4, CHRNB2, ENFL2, KCNT1)
Pan46Epileptic encephalopathy (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)
Pan47Episodic ataxias and their differential diagnosis (ARG1, ASL, ASS1, BCKDHA, BCKDH, CACNA1A, CACNB4, CPS1, DBT, DLD, IVD, KCNA1, KCNQ2, OTC, PDHA1, PNKD, SLC6A19, SNC2A, SLC1A3)
Pan259Erythrocytosis (BPGM, EGLN1, EPAS1, EPOR, HBA1, HBA2, HBB, JAK2, SH2B3, VHL)
Pan243Exostoses, multiple [ostoechondromatosis](EXT1, EXT2)
Pan129Familial dyskinesia/chorea panel (ADYC5, NKX2-1, PRRT2, PNKD, SLC2A1)
Pan48Familial hemiplegic migraine, CADASIL, retinal vasculopathy with cerebral leukodystrophy, hereditary hemorrhagic telangiectasia, familial cerebral cavernous malformations & alternating hemiplegia of childhood (ATP1A2, CACNA1A, SCN1A, NOTHC3, TREX1, ENG, ACVRL1, SMAD4, KRIT1, CCM2)
Pan49Familial hypercholesterolemia & other lipoprotein metabolism defects (APOB, LDLR, PCSK9, APOE, LRP6, ABCG5, ABCG8)
Pan176Familial hyperinsulinism (ABCC8, KCNJ11, GLUD1, GCK, HK1, HADH, HNF4A, HNF1A, INSR, SLC16A1, UCP2)
Pan181Familial pulmonary fibrosis (TERT, TERC, SFTPC, SFTPA2)
Pan50Fanconi anemia (BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MAD2L2, PALB2, RAD51, RAD51C, RFWD3, SLX4, UBE2T, XRCC2)
Pan175Febrile seizures and GEFS+ (ADGRV1, CPA6, GABRD, GABRG2, SCN1A, SCN1B, SCN9A, STX1B)
Pan51Female infertility (AR, BMP15, BNC1, BTG4, C11orf80, CYP21A2, DHEAST, DIAPH2, ERCC6, FANCM, FANCL, FIGLA, FMR1, FOXL2, FSHR, GDF9, HFM1, HNF1B, HSF2BP, LHB, LHCGR, MCMDC1, MCM8, MEI1, MSH4, MSH5, NOBOX, NR5A1, POF1B, POLR3H, PSMC3IP, REC114, SHBG, SPAG17, SRD5A1, SRD5A2, SRY, STAG3, STX2, SYCE1, TBX6, TRIP13, TUBB8, WEE2, XRCC2)
Pan189Fetal akinesia deformation sequence and multiple pterygium syndrome [incl. Escobar syndrome] (CHRNA1, CHRND, CHRNG, CNTN1, DOK7, NUP88, RAPSN, SLC18A3, SYNE1)
Pan138Fibromyalgia, genetic differential diagnosis of (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)
Pan240Fibrous dysplasia/McCune-Albright syndrome and its differential diagnosis (GNAS, HRAS, NF1, NRAS, SH3BP2)
Pan52Fleck retina, choroideremia and age-related macular degeneration (ABCA4, CFH, CFB, CHM, EFEMP1, PLA2G5, PIKFYVE, RDH5, RLBP1, RS1, TIMP3)
Pan207Floating-Harbor Syndrome and its differential diagnosis (CCDC8 , CREBBP, CUL7, EP300, OBSL1, SRCAP)
Pan208Focal dermal hypoplasia and its differential diagnosis (HCCS, IKBKG , PORCN, RECQL4, TP63)
Pan53Focal segmental glomerulosclerosis/nephrotic syndrome (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)
Pan54Frontotemporal dementia (CHMP2B, GRN, VCP, FUS, TARDBP, C9orf72 , MAPT, SIGMAR1, UBQLN2)
Pan251Galactosemia (GALE, GALK1, GALM, GALT)
Pan209Giant axonal neuropathy and its differential diagnosis (ARSA, ATP7A, EGR2GAN, GDAP1, MTMR2, PLA2G6, SBF1, SBF2, SH3TC2)
Pan55Glycogen storage disease (GYS1, GYS2, G6PC, SLC37A4, GAA, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PGAM2, LDHA, ALDOA, ENO3, PHKB, PHKA1, PGM1, GYG1, PRKAG2, PHKG2)
Pan56Glycogen/lipid storage myopathies, with/without rhabdomyolysis, excercise intolerance and other metabolic myopathies (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)
Pan196Griscelli syndrome and infantile sialic acid storage disorder (MLPH, MYO5A, RAB27A, SLC17A5)
Pan263Hemolytic anemia (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)
Pan224Hemophilia and other bleeding disorders (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 )
Pan148Hereditary hypoparathyroidism, isolated (PTH, GCM2, CASR)
Pan59Hereditary red cell membrane disorders [including: hereditary spherocytosis, elliptocytosis, pyropoikilocytosis, and stomatocystosis] (ABCB6, RHAG, RHCE, SLC2A1, ANK1, SPTB, SPTA1, EPB41, EPB42, ABCG5, ABCG8, SLC4A1, GYPC, HFE.)
Pan188Hereditary sensory and autonomic neuropathy (ATL1, ATL3, DNMT1, DST, ELP1, GBF1, KIF1A, NGF, NTRK1, PRDM12, RETREG1, SCN11A, SCN9A, SPTLC1, SPTLC2, WNK1)
Pan60Heterotaxy, visceral, Tetralogy of Fallot, VATER & VACTERLX associations(ACVR2B, CFC1, CRELD1, GJA1, GDF1, FOXH1, LEFTY2, MMP21, NKX2-5, NODAL, ZIC3)
Pan61Hirschsprung disease, nonsyndromic, susceptibility to (ECE1, EDN3, EDNRB, GDNF, NRG1, NRG3, NRTN, RET)
Pan62Histone-modification disorders and their differential diagnosis [incl. Wiedemann-Steiner, Kabuki, Coffin-Siris, Nicolaides-Baraitser, and Cornelia de Lange syndromes](ANKRD11, ARID1A, ARID1B, EP300, HDAC8, HNRNPK, NIPBL, KMT2A, KMT2D, KDM6A, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, RAD21)
Pan63Holoprosencephaly (CDON, FGF8, GLI2, GLI3, PTCH1, SHH, SIX3, TGIF1, ZIC2)
Pan242Hyper-IgE recurrent infection syndrome and its differential diagnosis, incl. immunodeficiency 35, Wiskott-Aldrich syndrome, Netherton syndrome, and Omenn syndrome (DCLRE1C, DOCK8, IL2RG, RAG1, RAG2, SPINK5, STAT3, TYK2, WAS, ZNF341)
Pan265Hyper-IgE syndrome and eosinophilia (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)
Pan145Hyperaldosteronism, familial, and its differential diagnosis (CACNA1D, CACNA1H, CYP11B1, CYP11B1/CYP11B2 fusion gene, CLCN2, HSD11B2, KCNJ5, NR3C1, NR3C2, SCNN1B, SCNN1G)
Pan260Hypercalcemia (AP2S1, CASR, CYP24A1, GNA11, SLC34A1)
Pan64Hyperekplexia (ARHGEF9, GLRA1, GLRB, GPHN, SLC6A5)
Pan131Hypophosphatemic rickets (PHEX, CLCN5, FGF23, DMP1, ENPP1, SLC34A3)
Pan168Immunodeficiency, primary (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)
Pan165Immunodeficiency, primary (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)
Pan262Isolated growth hormone deficiency (GH1, GHRHR, BTK, RNPC3)
Pan77Joubert & Meckel-Gruber syndrome panel, classic (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)
Pan135Joubert and Meckel-Gruber syndrome, extended (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)
Pan256Kabuki syndrome (KDM6A, KMT2D)
Pan65Kallmann syndrome and other forms of hypogonadotropic hypogonadism with or without 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)
Pan66Leber congenital amaurosis (AIPL1, CABP4, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13 , LCA5, LRAT, NMNAT1, OTX2, PRPH2, RD3, RDH12, RIMS2, RPE65, RPGRIP1, SPATA7, TULP1)
Pan140Left ventricular noncompaction (ACTC1, ACTN2, CSRP3, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, NNT, PKP2, PLN, RYR2, SGCD, TAZ, TCAP, TNNT2, TPM1)
Pan68Leukodystrophy (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)
Pan69Limb-girdle muscular dystrophy (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)
Pan70Lissencephaly (APC2, ARX, CDK5, DCX, KATNB1, NDE1, KATNB1, KIF2A, KIF5C, LAMB1, MACF1, PAFAH1B1, POMT1, POMT2, RELN, TMTC3, TUBA1A, TUBB2A, TUBB2B, TUBB, TUBB3, TUBG1, TUBA8)
Pan71Long QT syndrome (AKAP9, ANK2, CACNA1C, CALM1, CALM2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SCN10A, SNTA1)
Pan233Lysosomal acid lipase deficiency (Wolman/CESD and its differential diagnosis )
Pan72Lysosomal disorders (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 )
Pan169Malattia Leventinese [or dominant radial Drusen or Doyne honeycomb degeneration of retina] and its differential diagnosis (ABCA4, BEST1, CFB, CFH, EFEMP1, TIMP3)
Pan73Male infertility (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))
Pan74Malignant hyperthermia (CACNA1S, TRPV1, RYR1)
Pan75Maple syrup urine disease (BCKDHA, BCKDHB, DBT, DLD)
Pan76Marfan syndrome and related disorders (ACTA2, COL3A1, COL5A1, COL5A2, DLG4, EFEMP1, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1, TGFBR2)
Pan78Megaloblastic anemia with/without homocystinuria – disorders of intracellular cobalamin metabolism (AMN, CUBN, GIF, SLC19A2, DHFR, MTR, MMACHC, MMADHC, MTRR, LMBRD1, ABCD4)
Pan185Meier Gorlin syndrome and microcephalic primordial dwarfism (DONSON, ORC1, ORC4, GINS3, GMNN, ORC6, CDT1, CDC6, CDC45L, MCM5, PCNT, RNU4ATAC)
Pan79Mental retardation, 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)
Pan80Metaphyseal dysplasia (ANKH, CDKN1C, FLNA, MMP9, MMP13, NKX3-2, RMRP, RUNX2)
Pan81Methylmalonic acidemia(ABCD4, ACSF3, CD320, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, SUCLA2, SUCLG1)
Pan82Mitochondrial complex IV deficiency – cytochrome c oxidase deficiency (APOPT1, C12ORF62, COA3, COA5, COA6, COX10, COX14, COX15, COX20, COX6B1, FARS2 FASTKD2, LRPPRC, MTCO1, MTCO2, MTCO3, MTTL1, MTTS1, PET100, POLG, SCO1, SCO2, SURF1, TACO1)
Pan167Mitochondrial disorders, nuclear DNA genes (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)
Pan160Mitochondrial DNA depletion syndromes (AGK, DGUOK, FBXL4, MGME1, MPV17, OPA1, POLG, RRM2B, SLC25A4, SUCLA2, SUCLG1, TFAM, TK2, TWNK.)
Pan83MODY (ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KLF11, NEUROD1, PAX4, PDX1, RFX6, ZFP57)
Pan197Moebius syndrome (PLXND1, ?REV3L )
Pan249Moebius syndrome (PLXND1, REV3L, TUBB3)
Pan215Mucolipidosis (GNPTAB, GNPTG, MCOLN1 )
Pan84Mucopolysaccharidosis (ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, IDS, IDUA, NAGLU, SGSH)
Pan85Multiple epiphyseal dysplasia (COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2)
Pan128Myocardial Infarction, familial (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)
Pan86Myofibrillar myopathy, Nonaka myopathy, dysferlinopathy, Laing distal myopathy, and congenital myopathy with fiber-type disproportion (BAG3, CRYAB, DES, DNAJB6, DYSF, FHL1, GNE, FLNC, KY, LDB3, MYH7, MYOT, PYROXD1, SELENON, SVIL)
Pan158Myopathies and neuromuscular disorders, comprehensive (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)
Pan239Myopia (ARR3, CFAP53, CPSF1, HS6ST2, LRPAP1, P4HA2, SCO2, SLC39A5, ZNF644)
Pan87Nemaline myopathy and other congenital myopathies (ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2, FHL1, KBTBD13, MAMLD1, MTM1, MTMR14, MYF6, MYH7, MYPN, NEB, RYR1, SELENON, TNNT1, TPM2, TPM3.)
Pan88Nephronophthisis (ADAMTS9, NPHP1, INVS, NPHP3, NPHP4, IQCB1, CEP290, GLIS2, RPGRIP1L, NEK8, SDCCAG8)
Pan100Neurodegeneration with brain iron accumulation [NBIA] (ATP13A2, C19orf12, COASY, CP, CRAT, DCAF17, FA2H, FTL, PANK2, PLA2G6, REPS1, WDR45)
Pan90Neurofibromatosis (NF1, NF2, SPRED1)
Pan26Neuronal ceroid lipofuscinosis (ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1)
Pan91Neuronal migration disorders (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)
Pan210Niemann-Pick disease (NPC1, NCPC2, SMPD1 )
Pan92Noonan, LEOPARD, Costello and CFC syndromes, classic (BRAF, CBL, HRAS, KRAS, MAPK1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RRAS2, SHOC2, SOS1, SPRED1)
Pan139Noonan, LEOPARD, Costello and CFC syndromes, expanded (A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MAPK1, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS2, RREB1, SHOC2, SOS1, SOS2, SPRED1)
Pan147Obesity, syndromic and nonsyndromic (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)
Pan67Obesity, syndromic and nonsyndromic (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)
Pan95Optic atrophy (ACO2, AUH, CISD2, DNAJC19, MFN2, OPA1, OPA3, RTN4IP1, SERAC1, SPG7, TIMM8A, TMEM126A, TWNK, WFS1, YME1L1, mtDNA)
Pan96Osteogenesis imperfecta (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)
Pan97Osteopetrosis (CA2, CLCN7, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFSF11, TNFRSF11A)
Pan151Overgrowth syndromes (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)
Pan98Pancreatic cancer (APC, ATM, BMPR1A, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS1, PMS2, PRSS1, SMAD4, STK11)
Pan99Pancreatitis (PRSS1, SPINK1, CFTR, CTRC, TRPV6)
Pan266Panhypopituitarism (GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, SOX2, SOX3)
Pan101Parkinsons disease (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)
Pan102Periodic fever syndrome (ELANE, LPIN2, MEFV, MVK, NLRP3, NLRP12, PSTPIP1, TNFRSF1A)
Pan235Periodic paralysis, hyperkalemic, hypokalemic, thyrotoxic, and Andersen-Tawil syndrome (CACNA1S, KCNJ18, KCNJ2, RYR1, SCN4A)
Pan225Perrault syndrome (CLPP, ERAL1, HARS2, HSD17B4, LARS2, TWNK)
Pan103Pheochromocytoma (DLST, MAX, PRKAR1A, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL)
Pan211Poikiloderma spectrum (FAM111B, FERMT1, RECQL4, USB1)
Pan104Polycystic kidney disease and its differential diagnosis, classic (HNF1B, LRP5, PAX2, PKD1, PKD2, PKHD1, PRKCSH, SEC63, UMOD, VHL)
Pan29Polycystic kidney disease and its differential diagnosis, extended (GANAB, HNF1B, LRP5, PAX2, PKD1, PKD2, PKHD1, PRKCSH, SEC63, TSC1, TSC2, UMOD, VHL)
Pan166Polydactyly, excl. Bardet-Biedl and 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)
Pan105Pontocerebellar hypoplasia, classic (CASK, CHMP1A, EXOSC3, RARS2, SEPSECS, TSEN2, TSEN34, TSEN54, VRK1)
Pan136Pontocerebellar hypoplasia, extended (AMPD2, CASK, CHMP1A, CLP1, EXOSC3, EXOSC8, PCLO, RARS2, SEPSECS, TSEN15, TSEN2, TSEN34, TSEN54, VPS53, VRK1)
Pan226Porencephaly and schizencephaly (COL4A1, COL4A2, EMX2, SHH, SIX3)
Pan206Porphyria spectrum disorders (ALAD, ALAS2, CPOX, FAH, FECH, GATA1, HFE, HMBS, PPOX, UROD, UROS)
Pan227Premature ovarian failure (BMP15, DIAPH2, ERCC6, FANCM, FIGLA, FLJ22792, FOXL2, GDF9, HFM1, MCM8, MSH5, NOBOX, NR5A1, POLR3H, STAG3, SYCE1, TP63)
Pan28Primary ciliary dyskinesia (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)
Pan228Primary congenital glaucoma and its differential diagnosis (CYP1B1, FOXC1, GNAQ, LTBP2, NF1, NHS, OCRL, PAX6, PITX2, SLC4A11, SPATA13, TEK, WT1)
Pan58Primary hemophagocytic lymphohistiocytosis and its differential diagnosis (PRF1, UNC13D, STX11, STXBP2, RAB27A, XIAP, SH2D1A, LYST)
Pan229Primary hyperoxaluria (AGXT, GRHPR, HOGA1)
Pan183Primary microcephaly (MFSD2A, STIL, SASS6, ASPM, KIF14, NCAPH, COPB2, CEP135, WDFY3, CENPE, CDK6, MCPH1, CDK5RAP2, NCAPD3, NCAPD2, PCDHGC4, PHC1, CIT, ANKLE2, CENPJ, KNL1, CEP152, WDR62, ZNF335, ZIC1, LMNB1)
Pan212Progeroid syndromes (ANTXR1, ATP6V0A2, ATP6V1A, ATP6V1E1, B3GALT6, BANF1, ERCC1, ERCC2, ERCC4, ERCC8, FBN1, GH1, IGF1R, KCNJ6, LMNA, PDGFRB, PIK3R1, POLD1, PSMB8, PYCR1, SLC25A24, SPRTN, TOP3A, ZMPSTE24)
Pan94Progressive external ophthalmoplegia and its differential diagnosis (ACADS, DNA2, DGUOK, MGME1, OPA1, POLG, POLG2, RNASEH1, RRM2B, RYR1, SLC25A4, TK2, TWNK, VARS2, mtDNA)
Pan150Pseudohypoaldosteronism (CUL3, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4)
Pan230Pseudoxanthoma elasticum (ABCC6, ENNP1, GGCX)
Pan106Refsum disease (PEX1, PEX2, PEX26, PEX7, PHYH)
Pan107Renal cancer (EPCAM, FH, FLCN, HNF1A, HNF1B, MET, MITF, MLH1, MSH2, MSH6, PMS1, PMS2, PTEN, SDHB, SDHD, TSC1, TSC2, VHL, WT1)
Pan178Renal tubular acidosis (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)
Pan258Retinal dystrophies, nonsyndromic or paucisyndromic, extended (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)
Pan141Retinitis pigmentosa, classic (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)
Pan108Retinitis pigmentosa, extended (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)
Pan130Rett and Rett-like syndrome disorders (MECP2, FOXG1, CDKL5, JMJD1C, MEF2C, TCF4, GABBR2, GABRD, GRIN1, WDR45, SMC1A.)
Pan109RIDDLE syndrome and other radiosensitivities with immunodeficiency [incl. Nijmegen breakage syndrome, ataxia-telengectasia, severe combined immunodeficiency with Cernunnos, severe combined immunodeficiency Athabascan type, Immunodeficiency 26, LIG4 syndrome and X-linked agammaglobulinemia](RNF168, NBN, ATM, NHEJ1, DCLRE1C, PRKDC, LIG4, BTK.)
Pan246Rubinstein-Taybi syndrome (CREBBP, EP300)
Pan254Seckel syndrome (ATR, CEP152, CEP63, CENPJ, DNA2, NIN, NSMCE2, RBBP8, TRAIP)
Pan179Severe congenital neutropenia (CSF3R, ELANE, G6PC3, GFI1, HAX1, JAGN1, VPS45, WAS)
Pan161Skeletal dysplasias, classic (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)
Pan159Skeletal dysplasias, extended (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)
Pan112Skin cancer (CDKN2A, EPCAM, MC1R, MITF, MLH1, MSH2, MSH6, PMS1, PMS2, PTCH1, XRCC3)
Pan186Smith-Lemli-Opitz syndrome and its differential diagnosis, incl. Meckel-Gruber syndrome, Noonan syndrome, and Simpson-Golabi-Behmel syndrome and Pallister-Hall syndrome (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)
Pan255Sotos syndrome (NFIX, NSD1, APC2)
Pan113Spastic paraplegia (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)
Pan231Spermatogenic failure (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)
Pan114Spherocytosis (ANK1, EPB42, SLC4A1, SPTA1, SPTB)
Pan232Spinal muscular atrophy (AR, ASAH1, ASCC1, ATP7A, BICD2, BSCL2, CHCHD10, DNAJB2, DYNC1H1, FBXO38, GARS, HSPB8, IGHMBP2, PLEKHG5, SIGMAR1, SLC5A7, SMN1, SMN2, TRIP4, TRPV4, UBA1, VAPB, VRK1)
Pan155Spinocerebellar ataxia, basic – SCA types 1, 2, 3, 6, 7, 17 (ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, TBP)
Pan156Spinocerebellar ataxia, basic plus – SCA types 1, 2, 3, 6, 7, 8, 10, 12, 17, 36 (ATXN1, ATXN2, ATXN3, ATXN7,ATXN8, ATXN8OS, CACNA1A, NOP56, PPP2R2B, TBP)
Pan110Spinocerebellar ataxia, classic (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)
Pan153Spinocerebellar ataxia, classic 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)
Pan154Spinocerebellar ataxia, 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)
Pan144Spondylometaphyseal dysplasias and its differential diagnosis (ACP5, BMP2, BMPR1B, C21orf2, COL11A1, COL11A2, COL2A1, GALNS, GDF5, GLB1, GPX4, HSPG2, IHH, NEK1, NOG, PAM16, PAPSS2, PCYT1A, PITX1, ROR2, TRAPPC2, TRPV4)
Pan115Stargardt disease (ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, PROM1, PRPH2, RP1L1, RPGR, TIMP3, RIMS1)
Pan116Stickler syndrome (BMP4, COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, LOXL3)
Pan143Sudden death, incl. cardiac arrhythmias(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)
Pan117Surfactant metabolism dysfunction (ABCA3, CSF2RA, CSF2RB, NKX2-1, OAS1, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD)
Pan184Syndromic microcephaly [Seckel syndrome, Meier-Gorlin syndrome, microcephalic dwarfism, lissencephaly and cortical dysplasia, hypomyelinating leukodystrophy, Aicardi-Goutières syndrome, MVA, Feingold syndrome, Cornelia de Lange syndrome, Smith Lemli Opitz syndrome, Rubinstein-Taybi syndrome, Coffin-Siris syndrome with microcephaly, Neu-Laxova syndrome, Warburg micro syndrome, Galloway-Mowat syndrome, and others] (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, GINS3, 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)
Pan118Thrombocytopenia (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)
Pan174Thrombophilia (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)
Pan119Thyroid cancer (APC, PTEN, RET)
Pan241Thyroid hormone resistance and congenital nongoitrous hypothyroidism (NKX2-5, PAX8, THRA, THRB, TSHB, TSHR )
Pan214Trichothiodystrophy (ERCC2, ERCC3, GTF2E2, GTF2H5, MPLKIP, RNF113A)
Pan120Tuberous sclerosis (TSC1, TSC2)
Pan121Ullrich muscular dystrophy (COL6A1, COL6A2, COL6A3)
Pan122Urea cycle and hyperammonemia disorders (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)
Pan123Usher syndrome type I, II, III and its differential diagnosis (ADGRV1, CDH23, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, RPGR, TIMM8A, USH1C, USH1G, USH2A, WHRN)
Pan237Vitelliform macular dystrophy, other macular dystrophies and their differential diagnosis, basic (ABCA4, BEST1, CFB, CFH, CNGB3, EFEMP1, ELOVL4, IMPG1, IMPG2, PROM1, PRPH2, RP1L1, TIMP3)
Pan238Vitelliform macular dystrophy, other macular dystrophies and their differential diagnosis, extended, incl. cone and cone-rode dystrophies (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)
Pan124Vitreoretinopathy and Wagner syndrome (COL2A1, FZD4, LRP5, NDP, TSPAN12, VCAN)
Pan125Waardenburg syndrome (EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR)
Pan126Walker-Warburg syndrome (FKRP, FKTN, ISPD, LARGE1, POMT1, POMT2)
Pan163Weill-Marchesani and Weill-Marchesani-like syndrome (ADAMTS10, ADAMTS17, FBN1, LTBP2)
Pan234X-linked/autosomal lymphoproliferative syndromes (CD27, ITK, SH2D1A, XIAP)
Pan213Xeroderma pigmentosum and its differential diagnosis (DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, GTF2E2, GTF2H5, MPLKIP, POLH, RECQL4 , SLC6A19, UVSSA, XPA, XPC)
Pan127Zellweger syndrome (PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26)
Pan250Zimmermann-Laband syndrome (ATP6V1B2, KCNH1, KCNN3)