List of Panels

All panels below are immediately available for testing at Breda Genetics. Incidental findings: upon request.

Panels

Pan1 Acute myeloid leukemia (ARHGEF12, CBFB, CEBPA, FLT3, GATA2, JAK2, KIT, LPP, NPM1, NPM1, NSD1, PICALM, RUNX1, SH3GL1, TERT)
Pan191 Achromatopsia (ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H)
Pan154 Adams-Oliver syndrome (ARHGAP31, DOCK6, DLL4, EOGT, NOTCH1, RBPJ)
Pan2 Aicardi-Goutières syndrome (ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1)
Pan3 Albinism & Hermansky-Pudlak syndrome (AP3B1, BLOC1S3, BLOC1S6, C10ORF11, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, MC1R, MLPH, MITF, MYO5A, OCA2, RAB27A, SLC45A2, TYR, TYRP1).
Pan133 Allan-Herndon-Dudley syndrome and its differential diagnosis (ABCD1, ASPA, ARSA, GALC, MECP2, PLP1, SLC16A2, SMS)
Pan4 Alport syndrome, Epstein syndrome and Fechtner syndrome (COL4A3, COL4A4, COL4A5, MYH9)
Pan5 Alzheimer disease and other dementias (APOE, APP, C9orf72, CHMP2B, CSF1R, FUS, GRN, IL1RAP, MAPT, PRNP, PSEN1, PSEN2, SIGMAR1, SORL1, TARDBP, TREM2, UBE3A, UBQLN2, VCP)
Pan6 Amyotrophic lateral sclerosis (ALS2, ANG, ATXN2, C9orf72, CHMP2B, CHGB, DCTN1, FIG4, FUS, NEFH, OPTN, PFN1, PRPH2, SETX, SIGMAR1, SOD1, SPG20, TARDBP, UBQLN2, VAPB, VCP, VEGFA)
Pan167 Anemia, 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)
Pan7 Anophthalmia, microphthalmia isolated/syndromic (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)
Pan8 Aortic aneurysm, familial thoracic (MYH11, ACTA2, TGFBR1, TGFBR2, FBN1, COL3A1, SMAD3, FBN2, SLC2A10, MYLK, TGFB2)
Pan9 Arrhythmia, hereditary (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)
Pan10 Arrhythmogenic right ventricular cardiomyopathy (DSP, DSG2, DSC2, JUP, PKP2, RYR2, TGFB3, TMEM43)
Pan11 Arthrogryposis, distal, and other limb contractures (ADCY6, ECEL1, FBN1, FBN2, MYBPC1, NALCN, MYH3, MYH8, PIEZO2, TNNI2, TNNT3, TPM2, VIPAS39)
Pan12 Ashkenazi (GBA, CFTR, HEXA, IKBKAP, ASPA, G6PC, ABCC8, MCOLN1, BCKDHB, FANCC, DLD, SMPD1, CLRN1, PCDH15, BLM, NEB, BRCA1, BRCA2)
Pan94 Ataxia-oculomotor apraxia (APTX, PIK3R5, SETX, PNKP)
Pan13 Autism spectrum disorders (ADNP, ANKRD11, AFF2, ALDH5A1, ALDH7A1, AP1S2, ARID1B, ARX, ATRX, AVPR1A, BDNF, BRAF, CACNA1C, CASK, CDKL5, CHD2 CHD7, CHD8, CNTNAP2, CNTNAP5, CREBBP, DHCR7, DLGAP2, DMD, DOCK4, DPP10, DPP6, DYRK1A, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, GABRG1, GAMT, GATM, GNA14, GRIA3, GRIN2B, GRPR, HERC2, HOXA1, HPRT1, IMMP2L, KATNAL2, KCTD13, KDM5C, KIRREL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MET, MID1, NEGR1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PCDH9, PDE10A, PHF6, PIP5K1B, PNKP, PNPO, POGZ, PON3, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAI1, RBFOX1, RELN, RPL10, SATB2, SCN1A, SCN2A, SHANK2, SHANK3, SLC6A4, SLC9A6, SLC9A9, SMC1A, SMG6, SNRPN, SOX5, SPAST, ST7, STK3, SYNGAP1, TCF4, TSC1, TSC2, UBE3A, UPF3B VPS13B, ZEB2, ZNF507, ZNF804A, ZNHIT6)
Pan200 Baller-Gerold syndrome and its differential diagnosis (ESCO2, RECQL4, SALL4, TBX5, TWIST)
Pan14 Bardet-Biedl syndrome (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 Bartter syndrome (BSND, CASR, CLCNKA, CLCNKB, KCNJ1, SLC12A1, SLC12A3)
Pan175 Basal cell nevus syndrome [Gorlin or Gorlin-Goltz syndrome] (PTCH1, PTCH2, SUFU)
Pan16 Bethlem myopathy (COL6A1, COL6A2, COL6A3, COL12A1)
Pan201 Bohring-Opitz syndrome and its differntial diagnosis (ASXL1, ASXL2, ASXL3, CD96, HDAC8, KLHL7, NIPBL, RAD21, SMC1A, SMC3)
Pan186 Bone 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)
Pan203 Branchiootic and branchiootorenal syndromes (EYA1, SIX1, SIX5)
Pan17 Breast and ovarian cancer, hereditary (ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, MRE11A, NBN, PALB2, RAD50, RAD51C, RAD51D, PTEN, STK11, TP53)
Pan178 Breast-ovarian cancer, essential (BRCA1, BRCA2)
Pan18 Brugada syndrome (CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, SCN1B,SCN3B, SCN5A)
Pan202 Burn-McKeown syndrome and Treacher-Collins syndrome (POLR1C, POLR1D, TCOF1, TXNL4A)
Pan208 Camurati-Engelman disease and its differential diagnosis (FAM111A, LRP5, SOST, TBXAS1, TGFB1, TNFRSF11B)
Pan209 Canavan Disease and its differential diagnosis (AMT, ARSA, ASPA, GCDH, GCSH, GFAP, GLDC, HEXA, mtDNA)
Pan19 Cantú 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)
Pan20 Cardiomyopathy, dilated (ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CSRP3, CRYAB, DES, DMD, DSG2, EYA4, FKTN, GATAD1, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, PRDM16, PSEN1, PSEN2, RBM20, SCN5A, SDHA, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL)
Pan21 Cardiomyopathy, hypertrophic (ACTC1, ACTN2, CALR3, CAV3, CSRP3, FLNC, GLA, JPH2, LAMP2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PLN, PRKAG2, PTPN11, SLC25A4, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL)
Pan210 Cartilage-hair hypoplasia – anauxetic dysplasia spectrum disorders (COL10A1, DCLRE1C, ELANE, G6PC3, PTH1R, RAG1, RAG2, RMRP, SBDS, SMARCAL1, WAS)
Pan22 Cataract, isolated, classic (AGK, BFSP1, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA1 , CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, EPHA2, FYCO1, GCNT2, GJA3, GJA8 , HSF4, LEMD2, LIM2, LSS , MAF, MIP, NHS , PITX3 , SIPA1L3, TDRD7, UNC45B, VIM, WFS1)
Pan157 Cataract, 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)
Pan23 Catecholaminergic polymorphic ventricular tachycardia (RYR2, CASQ2, KCNJ2)
Pan211 Central core disease and its differential diagnosis (ACTA1, CFL2, MYH7, RYR1, SELENON, TNNT1)
Pan24 Central hypoventilation syndrome (RET, GDNF, EDN3, BDNF, ASCL1, PHOX2A, PHOX2B, ZEB2, GFRA1, ECE1, MECP2)
Pan25 Cerebellar ataxia (ADCK3, APTX, COQ2, COQ9, DNMT1, FXN, PDSS1, PDSS2, POLG, SACS, SETX, SYNE1, TTPA, VLDLR)
Pan134 Cerebroretinal microangiopathy with calcifications and cysts – Coats plus syndrome – and its differential diagnosis (CTC1, POT1, SNORD118, SLC20A2, PDGFRB, PDGFB)
Pan212 Cerebrotendinous xanthomatosis and its differential diagnosis (ABCG5, ABCG8, APOB, APOE, CYP27A1, LDLR, LDLRAP1, LPL, PCSK9)
Pan27 Charcot-Marie-Tooth neuropathy (AARS, ABHD12, AIFM1, ARHGEF10, ATP1A1, ATP7A, BAG3, BSCL2, CNTNAP1, COA7, DCTN1, DCTN2, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DRP2, DYNC1H1, EGR2, FGD4, FIG4, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, NAGLU, NDRG1, NEFH, NEFL, PDK3, PLEKHG5, PMP22, PRPS1, PRX, PTRH2, RAB7A, SBF1, SBF2, SCO2, SETX, SGPL1, SH3TC2, SIGMAR1, SPG11, SPTLC1, TRIM2, TRPV4, VCP, WARS, YARS)
Pan204 Cherubism and its differential diagnosis (FMR1, GNAS, NF1, PTPN11, SH3BP2, SOS1)
Pan149 Cholestasis and bile acid synthesis defect (ABCB11, ABCB4, ABCD3, ACOX2, AKR1D1, AMACR, ATP8B1, CYP7B1, HSD3B7, NR1H4 y TJP2)
Pan149 Cholestasis and bile acid synthesis defect (ABCB11, ABCB4, ABCD3, ACOX2, AKR1D1, AMACR, ATP8B1, CYP7B1, HSD3B7, NR1H4, TJP2)
Pan205 Chondrodysplasia 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)
Pan232 Chronic granulomatous disease (CYBA, CYBB, NCF1, NCF2, NCF4)
Pan29 CMT neuropathy axonal/demyelinating (AARS, ARHGEF10, CTDP1, DNM2, EGR2, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, DYNC1H1, HSPB8, HSPB1, LITAF, MTMR2, KIF1B, LMNA, MED25, MFN2, MPZ, NDRG1, NEFL, RAB7A, PMP22, PRPS1, PRX, SBF2, SH3TC2, SLC12A6, TRPV4, YARS)
Pan213 Coffin-Lowry syndrome and its differential diagnosis (ATRX, ELN, MED12, PHF6, RPS6KA3, TCF4)
Pan30 Coffin-Siris syndrome (ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1)
Pan31 Colon & gastric cancer, with/without polyposis (APC, BMPR1A, CDH1, MLH1, MLH3, MSH2, MSH6, MUTYH, PMS1, PMS2, PTEN, SMAD4, STK11, EPCAM)
Pan32 Cone-rod and cone dystrophy (ABCA4, ADAM9, AIPL1, BEST1, C8ORF37, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, CRX, GUCA1A, GUCY2D, KCNV2, PDE6C, PDE6H, PITPNM3, PROM1, PRPH2, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, UNC119)
Pan57 Congenital disorders of glycosylation (ALG1, ALG2, ALG3, ALG6, ALG8, ALG9, ALG11, ALG12, ALG13, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DOLK, DPAGT1, DPM1, DPM3, MGAT2, MOGS, MPDU1, MPI, PMM2, RFT1, SLC35A1, SLC35C1)
Pan197 Congenital 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)
Pan215 Congenital fibrosis of the extraocular muscles and its differential diagnosis (CHN1, HOXA1, KIF21A, PEO1, PHOX2A, POLG, ROBO3, SALL4, SLC25A4, TMPO, TUBB2B, TUBB3, mtDNA)
Pan33 Congenital ichthyosis (ALOX12B, ABCA12, ALOXE3, CYP4F22, LIPN, NIPAL4, PNPLA1, TGM1)
Pan214 Congenital insensitivity to pain (CLTCL1, NGF, NTRK1, PRDM12, SCN9A, SCN11A, HPRT1, IKBKAP, MPV17, ZFHX2)
Pan34 Congenital myasthenic syndrome (AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, GFPT1, LAMB2, MUSK, PLEC, RAPSN, SCN4A)
Pan233 Congenital stationary night blindness (CACNA1F, GNAT1, GNB3, GRK1, GRM6, GPR179, LRIT3, NYX, PDE6B, RHO, SAG, SLC24A1, TRPM1)
Pan35 Cornelia de Lange syndrome (HDAC8, NIPBL, RAD21, SMC1A, SMC3)
Pan195 Cortical dysplasia and lissencephaly (KIF5C, KIF2A, TUBB2A, TUBB2B, TUBB, TUBB3, TUBG1, TUBA8, RELN, LAMB1, CDK5, TUBA1A, TMTC3, NDE1, KATNB1, MDLS, PAFAH1B1, ARX, DCX)
Pan226 Cutis laxa (ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, FBLN5,  LTBP4, PYCR1)
Pan169 Cystic fibrosis and its differential diagnosis (ARMC4, C21ORF56, CA12, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFTR, DNAAF1, DNAAF3, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DYX1C1, GAS8, HEATR2, HYDIN, IL2RG, KTU, LRRC6, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SBDS, SCNN1A, SCNN1B, SCNN1G, SPAG1, TAP1, TAP2, TTC25, TXNDC3, ZMYND10)
Pan138 Deafness, non-syndromic sensorineural autosomal dominant/recessive/X-linked/mitochondrial, extended (ACTG1, ADCY1, AIFM1, BSND, CABP2, CCDC50, CD164, CDC14A, CEACAM16, CIB2, CLIC5, CLPP, COCH, COL11A2, COL4A6, CRYM, CDH23, CLDN14, DCDC2, DFNA5, DIABLO, DIAPH1, DIAPH3, DMXL2, DSPP, ELMOD3, EPS8, ESPN, ESRRB, EYA4, FAM189A2, FAM65B, FOXI1, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, GRXCR2, GRHL2, GRIN2A, HGF, HOMER2, ILDR1, KARS, KCNJ10, KCNQ4, KITLG, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MCM2, MET, MIR96, MSRB3, MYH14, MYH9, MYO1A, MYO15A, MYO3A, MYO6, MYO7A, NLRP3, OSBPL2, OTOA, OTOF, OTOG, P2RX2, PCDH15, PJVK, PNPT1, POU3F4, POU4F3, PRPS1, PTPRQ, RAI1, RDX, S1PR2, SERPINB6, SIX1, SLC17A8, SMPX, SLC26A4, SLC26A5, STRC, TBC1D24, SYNE4, TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TMTC2, TNC, TPRN, TRIOBP, TSPEAR, USH1C, WFS1, WHRN, mtDNA)
Pan36 Deafness, 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, MSRB3, MYH14, MYH9, MYO1A, MYO15A, MYO3A, MYO6, MYO7A, NLRP3, OTOA, OTOF, OTOG, P2RX2, PCDH15, PNPT1, POU3F4, POU4F3, PRPS1, PTPRQ, RAI1, RDX, SERPINB6, SIX1, SLC17A8, SMPX, SLC26A4, SLC26A5, STRC, TBC1D24, TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, WFS1, mtDNA)
Pan37 Dense 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).
Pan38 Diabetes neonatal (ABCC8, FOXP3, G6PC2, GCK, GLIS3, INS, INSR, KCNJ11, NEUROG3, PDX1)
Pan39 Diamond-Blackfan anemia (GATA1, RPL11, RPL35A, RPL5, RPL15, RPL26, RPL27, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2)
Pan162 Distal myopathies (ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, LDB3, MATR3, MYH7, MYOT, SQSTM1, TCAP, TIA1, TTN, VCP)
Pan40 Dravet syndrome (SCN1A, GABRG2, SCN2A, SCN9A)
Pan135 Dyskeratosis congenita and its differential diagnosis (ACD, CTC1, DKC1, NHP2, NOP10, PARN, POT1, RETL1, SNORD118, TERC, TERT, TINF2, WRAP53)
Pan176 Dyslipidemia (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)
Pan177 Dyslipidemia 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)
Pan41 Dystonias (GCH1, PNKD, PRRT2, SGCE, SLC2A1, SPR, TH, THAP1, TOR1A, VPS13A, mitochondrial DNA)
Pan42 Early infantile epileptic encephalopathy (AARS, ALG13, AP3B2, ARHGEF9, ARV1, ARX, CACNA1A, CAD, CDKL5, DENND5A, DNM1, DOCK7, EEF1A2, FGF12, FRRS1L, GABRA1, GABRB1, GABRB3, GNAO1, GRIN2B, GRIN2D, GUF1, HCN1, HNRNPU, ITPA, KCNA2, KCNB1, KCNQ2, KCNT1, MDH2, NECAP1, PCDH19, PIGA, PIGP, PLCB1, PNKP, SCN1A, SCN1B, SCN2A, SCN8A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A12, SLC25A22, SLC35A2, SPTAN1, ST3GAL3, STXBP1, SYNJ1, SZT2, TBC1D24, UBA5, WWOX)
Pan189 Ectodermal 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)
Pan43 Ehlers-Danlos syndrome, Marfan syndrome, Familial Thoracic Aortic Aneurysm Dissection & Arterial tortuosity syndrome (ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, PLOD1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB)
Pan44 Epidermolysis bullosa (COL7A1, COL17A1, ITGA6, ITGB4, KRT5, KRT14, LAMA3, LAMB3, LAMC2, PLEC, CD151, CDSN, CHST8, CSTA, DSG1, DSG2, DSG4, DSP, DST, FERMT1, GRIP1, ITGA3 , MMP1, NID1, PKP1, TGM5)
Pan227 Epilepsy familial adult myoclonic (ADRA2B, CNTN2, FAME3, FAME4, RAPGEF2, SAMD12, TNRC6A)
Pan228 Epilepsy familial focal with variable foci (DEPDC5, NPR2L, NPR3L, SCN3A)
Pan229 Epilepsy progressive myoclonic (CERS1, CSTB, EPM2A, GOSR2, KCNC1, KCTD7, LMNB2, NHLRC1, PRDM8, PRICKLE1, SCARB2)
Pan230 Epilepsy, familial temporal lobe  (CPA6, ETL2, ETL3, ETL4, ETL6, GAL, LGI1)
Pan45 Epilepsy, hereditary (CACNA1H, CACNB4, CHRNA2, CHRNA4, CHRNB2, CLCN2, CPA6, EFHC1, GABRA1, GABRB3, GABRD, GABRG2, JRK, KCNMA1, KCNQ2, KCNQ3, KCNT1, LGI1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SRPX2)
Pan231 Epilepsy, nocturnal frontal lobe (CHRNA2, CHRNA4, CHRNB2, ENFL2, KCNT1)
Pan46 Epileptic encephalopathy (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)
Pan47 Episodic ataxias and their differential diagnosis (ARG1, ASL, ASS1, BCKDHA, BCKDH, CACNA1A, CACNB4, CPS1, DBT, DLD, IVD, KCNA1, KCNQ2, OTC, PDHA1, PNKD, SLC6A19, SNC2A, SLC1A3)
Pan130 Familial dyskinesia/chorea panel (ADYC5, NKX2-1, PRRT2, PNKD, SLC2A1)
Pan48 Familial 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)
Pan49 Familial hypercholesterolemia & other lipoprotein metabolism defects (APOB, LDLR, PCSK9, APOE, LRP6, ABCG5, ABCG8)
Pan185 Familial hyperinsulinism (ABCC8, KCNJ11, GLUD1, GCK, HK1, HADH, HNF4A, HNF1A, INSR, SLC16A1, UCP2)
Pan190 Familial pulmonary fibrosis (TERT, TERC, SFTPC, SFTPA2)
Pan50 Fanconi anemia (BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MAD2L2, PALB2, RAD51A, RAD51C, RFWD3, SLX4, UBE2T, XRCC2)
Pan184 Febrile seizures and GEFS+ (ADGRV1, CPA6, GABRD, GABRG2, SCN1A,  SCN1B, SCN9A, STX1B)
Pan51 Female infertility (AR, BMP15, BRCA1, CYP21A2, DHEAST, DIAPH2, FIGLA, FMR1, FOXL2, FSHR, HFM1, LHB, LHCGR, MCMDC1, MCM8, NOBOX, NR5A1, POF1B, PSMC3IP, SHBG, SRD5A1, SRD5A2, STAG3, TUBB8)
Pan199 Fetal akinesia deformation sequence and multiple pterygium syndrome [incl. Escobar syndrome] (CHRNA1, CHRND, CHRNG, CNTN1, DOK7, RAPSN, and SYNE1)
Pan143 FGFR-related craniosynostosis syndromes and their differential diagnosis [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, craniofrontonasal syndrome, Greig cephalopolysyndactyly, Shprintzen-Goldberg syndrome, Boston-type craniosynostosis, Loeys-Dietz Syndrome] (EFNB1, FGFR1, FGFR2, FGFR3, GLI3, MSX2, POR, RAB23, RECQL4, SKI, TGFBR1, TGFBR2, TWIST1)
Pan139 Fibromyalgia, 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, SCO1, SCO2, SLC16A1, SPR, SURF1, TACO1, TNFRSF1A, TNXB)
Pan52 Fleck retina, choroideremia and age-related macular degeneration (ABCA4, CFH, CFB, CHM, EFEMP1, PLA2G5, RDH5, RLBP1, RS1, TIMP3, VPS13B)
Pan217 Floating-Harbor Syndrome and its differential diagnosis (CCDC8 , CREBBP, CUL7, EP300, OBSL1, SRCAP)
Pan218 Focal dermal hypoplasia and its differential diagnosis (HCCS, IKBKG , PORCN, RECQL4, TP63)
Pan53 Focal 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, TRPC6, WT1)
Pan54 Frontotemporal dementia (CHMP2B, GRN, VCP, FUS, TARDBP, C9orf72 , MAPT, SIGMAR1, UBQLN2)
Pan219 Giant axonal neuropathy and its differential diagnosis (ARSA, ATP7A, EGR2GAN, GDAP1, MTMR2, PLA2G6, SBF1, SBF2, SH3TC2)
Pan55 Glycogen storage disease (GYS1, GYS2, G6PC, SLC37A4, GAA, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PGAM2, LDHA, ALDOA, ENO3, PHKB, PHKA1, PGM1, GYG1, PRKAG2, PHKG2)
Pan56 Glycogen/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)
Pan206 Griscelli syndrome and infantile sialic acid storage disorder (MLPH, MYO5A, RAB27A, SLC17A5)
Pan58 Hemophagocytic lymphohistiocytosis and its differential diagnosis (PRF1, UNC13D, STX11, STXBP2, RAB27A, XIAP, SH2D1A, CHS1).
Pan234 Hemophilia 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)
Pan153 Hereditary hypoparathyroidism, isolated (PTH, GCM2, CASR)
Pan59 Hereditary 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).
Pan198 Hereditary sensory and autonomic neuropathy (ATL1, ATL3, DNMT1, DST, ELP1, KIF1A, NGF, NTRK1, PRDM12, RETREG1, SCN11A, SCN9A, SPTLC1, SPTLC2, WNK1)
Pan60 Heterotaxy, visceral, Tetralogy of Fallot, VATER & VACTERL(X) associations (ACVR2B, CFC1, CRELD1, GJA1, GDF1, FOXH1, LEFTY2, MMP21, NKX2-5, NODAL, ZIC3)
Pan61 Hirschsprung disease, nonsyndromic, susceptibility to (ECE1, EDN3, EDNRB, GDNF, NRG1, NRG3, NRTN, RET)
Pan62 Histone-modification disorders and their differential diagnosis (incl. Wiedemann-Steiner, Kabuki, Coffin-Siris, Nicolaides-Baraitser, and Cornelia de Lange syndromes) (ARID1A, ARID1B, HDAC8, NIPBL, KMT2A, KMT2D, KDM6A, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, RAD21)
Pan63 Holoprosencephaly (CDON, FGF8, GLI2, GLI3, PTCH1, SHH, SIX3, TGIF11, ZIC2)
Pan148 Hyperaldosteronism, familial, and its differential diagnosis (CACNA1D, CACNA1H, CYP11B1, CYP11B1/CYP11B2 fusion gene, HSD11B2, KCNJ5, NR3C1, NR3C2, SCNN1B, SCNN1G)
Pan64 Hyperekplexia (ARHGEF9, GLRA1, GLRB, GPHN, SLC6A5)
Pan132 Hypophosphatemic rickets (PHEX, CLCN5, FGF23, DMP1, ENPP1, SLC34A3)
Pan170 Immunodeficiency, 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)
Pan77 Joubert & Meckel-Gruber syndrome panel, classic (AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, INPP5E, KIF7, MKS1, NPHP1, NPHP3, OFD1, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423)
Pan136 Joubert and Meckel-Gruber syndrome, extended (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 Kallmann syndrome and other forms of hypogonadotropic hypogonadism with or without anosmia (CHD7, DUSP6, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, GNRH1, GNRHR, HS6ST1, IL17RD, KAL1, KISS1, KISS1R, LHB, NSMF, PROK2, PROKR2, SEMA3A, SPRY4, TAC3, TACR3, WDR11)
Pan66 Leber congenital amaurosis (AIPL1, CABP4, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13 , LCA5, LRAT, NMNAT1, OTX2, PRPH2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1)
Pan141 Left ventricular noncompaction (ACTC1, ACTN2, CSRP3, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, NNT, PKP2, PLN, RYR2, SGCD, TAZ, TCAP, TNNT2, TPM1)
Pan67 Leigh syndrome/NARP & their differential diagnosis (ADAR1, BCS1L, BTD, C12orf65, C20ORF7, C8ORF38, COX10, COX15, DLD, EARS2, ETHE1, FARS2, FOXRED1, GFM1, HIBCH, HLCS, LIAS, LIPT1, LRPPRC , MCEE, MMAA, MMAB, MMADHC,  MT-ATP6, MT-CO3, MTFMT, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, MT-TK, MT-TV, MT-TW, MUT , NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NUP62, PANK2, PCCA , PCCB, PDHA1, PDHB, PDHX, PDSS2, PET100, POLG, RANBP2, SCO2, SDHA, SERAC1, SLC19A3, SLC25A19, SUCLA2, SUCLG1, SURF1, TACO1, TTC19, UQCRQ).
Pan68 Leukodystrophy (AARS, AARS2, ABAT, ABCD1, ACADS, ACER3, ACOX1, ACY1, ADAR, ADGRG1, ADSL, AHDC1, ALDH3A2, ALDH6A1, AMN, AMPD2, ANK3, AP4B1, AP4S1, APOPT1, ARHGAP31, ARHGEF10, ARNT2, ARSA, ASNS, ASPA, ASXL1, AUH, BCAP31, BCS1L, BEST1, BMP4, BRAT1, CARS2, CCDC88A, CHMP2B, CLCN2, CLN6, CLP1, COL4A1, COL4A2, COX10, COX15, COX7B, CPLX1, CSF1R, CTBP1, CTC1, CTDP1, CYP27A1, CYP7B1, D2HGDH, DAG1, DARS, DARS2, DDHD2, DEAF1, DHFR, DHH, DLL4, DNM2, DOCK6, DPYS, DYRK1A, EARS2, EDNRB, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ENTPD1, EPG5, ERCC2, ERCC6, ERCC8, FA2H, FAM126A, FBXL4, FGD4, FGFRL1, FIG4, FKRP, FOLR1, FOXC1, FOXG1, FOXRED1, GAA, GALC, GAN, GBE1, GCDH, GDAP1, GFAP, GFM1, GJA1, GJB1, GJC2, GLB1, GLUL, GLYCTK, GNAO1, GRM7, GRN, HEPACAM, HEXA, HSD17B4, HSPD1, HTRA1, IBA57, IDUA, IER3IP1, IFIH1, ISCA2, ITPA, KARS, KCNJ10, KCNT1, L2HGDH, LAMA1, LAMA2, LAMB1, LARGE1, LETM1, LIPT1, LITAF, LMNB1, LRPPRC, LYRM7, MAPT, MARS2, MAT1A, MCOLN1, MEF2C, MLC1, MOCS1, MOCS2, MPV17, MPZ, MRPS22, MTFMT, MTTP, MUT, NADK2, NDRG1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEFL, NFU1, NGLY1, NOTCH1, NOTCH3, NRXN1, NSD2, NUBPL, OCRL, PAFAH1B1, PC, PCDH12, PDYN, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PHGDH, PHYH, PIGA, PLEKHG2, PLP1, PMP22, POLG, POLR1C, POLR3A, POLR3B, POMK, POMT1, PPP2R1A, PRKDC, PRPS1, PRX, PSAP, PSEN1, PTEN, PURA, PYCR2, QARS, RARS, RBPJ, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, RPIA, RPS6KC1, SAMHD1, SBF2, SCP2, SDHA, SDHAF1, SDHB, SDHD, SEPSECS, SH3TC2, SHANK3, SHPK, SLC16A2, SLC17A5, SLC1A4, SLC25A1, SLC25A12, SLC25A22, SLC33A1, SLC35A2, SLC46A1, SLC6A8, SNIP1, SOX10, SPATA5, SPG11, SPG20, SPTAN1, SQSTM1, SSR4, STAMBP, STAT1, STXBP1, SUMF1, SURF1, SYNE1, TACO1, TAF2, TARS2, TM4SF20, TMEM126B, TMEM165, TMEM187, TMEM70, TRAPPC9, TREM2, TREX1, TRMT10A, TRMT5, TSC1, TSEN54, TUBB2A, TUBB4A, TUFM, TYMP, TYROBP, UBE2A, UPB1, VARS2, VCP, VPS11, WWOX, ZEB2, ZFYVE26, ZNF335)
Pan69 Limb-girdle muscular dystrophy (ANO5, CAPN3, CAV3, DAG1, DNAJB6, DYSF, FKRP, FKTN, LAMA2, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, SELENON, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32, TTN)
Pan70 Lissencephaly (ARX, CDK5, DCX, NDE1, KATNB1, LAMB1, PAFAH1B1, POMT1, POMT2, RELN, TUBA1A)
Pan71 Long QT syndrome (AKAP9, ANK2, CACNA1C, CALM1, CALM2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1)
Pan173 Lymphedema, hereditary and other conditions with lymphedema (CCBE1, FAT4, FLT4, FOXC2, GATA2, GJC2, KIF11, SOX18, VEGFC)
Pan72 Lysosomal storage disease (ARSA, FUCA1, GALC, GBA, GLB1, GNPTAB, GUSB, HEXA, HEXB, MAN2B1, MANBA, NAGA, SMPD1)
Pan174 Malattia Leventinese [or dominant radial Drusen or Doyne honeycomb degeneration of retina] and its differential diagnosis (ABCA4, BEST1, CFB, CFH, EFEMP1, TIMP3)
Pan73 Male infertility (AR, CATSPER1, CFTR, FSHR, LHCGR, AZF)
Pan74 Malignant hyperthermia (CACNA1S, RYR1)
Pan75 Maple syrup urine disease (BCKDHA, BCKDHB, DBT, DLD)
Pan76 Marfan syndrome and related disorders (ACTA2, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYH11, SLC2A10, SMAD3, TGFBR1, TGFBR2)
Pan78 Megaloblastic anemia with/without homocystinuria – disorders of intracellular cobalamin metabolism (AMN, CUBN, GIF, SLC19A2, DHFR, MTR, MMACHC, MMADHC, MTRR, LMBRD1, ABCD4)
Pan194 Meier Gorlin syndrome and microcephalic primordial dwarfism (ORC1, ORC4, GMNN, ORC6, CDT1, CDC6, CDC45L, MCM5, PCNT, RNU4ATAC)
Pan79 Mental 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, KIAA2022, KDM5C, L1CAM, LAMP2, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1, MTM1, NDP, NDUFA1, NHS, NLGN3, NLGN4X, NSDHL, NXF5, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1, RAB39B, RPL10, RPS6KA3, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TIMM8A, TSPAN7, UBE2A, UPF3B, ZCCHC12, ZDHHC9, ZDHHC15, ZNF41, ZNF81, ZNF674, ZNF711)
Pan80 Metaphyseal dysplasia (ANKH, CDKN1C, FLNA, MMP9, MMP13, NKX3-2, RMRP, RUNX2)
Pan81 Methylmalonic acidemia(ABCD4, ACSF3, CD320, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, SUCLA2, SUCLG1)
Pan82 Microcephaly (AKT3, AP4M1, ASPM, CASK, CDK5, RAP2, CENPJ, CEP135, CEP152, CEP63, DNM1L, EFTUD2, IER3IP1, KIF11, MCPH1, MRE11A, MSMO1, NDE1, NHEJ1, NR2E1, PAFAH1B1, PCNT, PNKP, POMT1, SLC25A19, STIL, TUBB2B, TUBGCP6, WDR62)
Pan83 Mitochondrial 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)
Pan172 Mitochondrial 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
Pan165 Mitochondrial DNA depletion syndromes (AGK, DGUOK, FBXL4, MGME1, MPV17, OPA1, POLG, RRM2B, SLC25A4, SUCLA2, SUCLG1, TFAM, TK2, TWNK).
Pan84 MODY (ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KLF11, NEUROD1, PAX4, PDX1, RFX6, ZFP57)
Pan207 Moebius syndrome (PLXND1, ​REV3L)
Pan225 Mucolipidosis (GNPTAB, GNPTG, MCOLN1)
Pan85 Mucopolysaccharidosis (ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, IDS, IDUA, NAGLU, SGSH)
Pan86 Multiple epiphyseal dysplasia (COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2)
Pan129 Myocardial 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)
Pan87 Myofibrillar 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)
Pan163 Myopathies and neuromuscular disorders, comprehensive (ACTA1, ACVR1, ANO5, ATP2A1, B3GALNT2, BAG3, BIN1, CACNA1S, CAPN3, CASQ1, CAV3, CCDC78, CFL2, CHCHD10, CHKB, CLCN1, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, CPT2, CRYAB, DAG1, DES, DMD, DNA2, DNAJB6, DNM2, DPM1, DPM2, DPM3, DYNC1H1, DYSF, EMD, FHL1, FKBP14, FKRP, FKTN, FLCN, FLNC, GAA, GMPPB, GNE, HACD1, HNRNPA1, HNRNPA2B1, IGHMBP2, ISCU, ISPD, ITGA7, KBTBD13, KCNJ2, KLHL40, KLHL41, KLHL9, LAMA2, LAMP2, LARGE1, LDB3, LMNA, LMOD3, MATR3, MEGF10, MSTN, MTM1, MTMR14, MYF6, MYH14, MYH2, MYH7, MYL2, MYOT, MYPN, NEB, OPA1, ORAI1, PABPN1, PLEC, PLEKHG5, POLG, POLG2, POMGNT1 , POMT1, POMT2, PUS1, RRM2B, RYR1, SCN4A, SELENON, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SPEG, SQSTM1, STAC3, STIM1, SUCLA2, SYNE1, TCAP, TIA1, TK2, TMEM5, TNNI2, TNNT1, TNPO3, TPM2, TPM3, TRIM32, TRPV4, TTN, TWNK, UBA1, VCP, VMA21, VRK1, YARS2, mtDNA)
Pan88 Nemaline 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).
Pan89 Nephronophthisis (NPHP1, INVS, NPHP3, NPHP4, IQCB1, CEP290, GLIS2, RPGRIP1L, NEK8, SDCCAG8)
Pan90 Nephrotic syndrome/Focal Segmental Glomerulosclerosis (LAMB2, NPHS1, NPHS2, PLCE1, WT1, ACTN4, CD2AP, INF2, TRPC6)
Pan101 Neurodegeneration with brain iron accumulation [NBIA] (ATP13A2, C19orf12, COASY, CP, CRAT, DCAF17, FA2H, FTL, PANK2, PLA2G6, REPS1, WDR45)
Pan91 Neurofibromatosis (NF1, NF2, SPRED1)
Pan26 Neuronal ceroid lipofuscinosis (ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1)
Pan92 Neuronal migration disorders (ACTB, ACTG1, ARFGEF2, ARX, COL18A1, COL4A1, CPT2, DCX, EMX2, EOMES, FGFR3, FH, FKRP, FKTN, FLNA, GPR56, IER3IP1, ISPD, LAMA2, LAMC3, LARGE1, MED12, MEF2C, OCLN, PAFAH1B1, PAX6, PEX7, POMGNT1, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RELN, SNAP29, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3, WDR62)
PanOrpha New orpha genes (EED, RNU12, SELENOI, SLC30A9, TRAK1, WARS, NDUFB8, GRIN1, ATP5F1D, DPF2, GRHL2, OAS1, WEE2, EPHB4, SCO2, ATP1A1, LTBP3, UNC45A, B3GALNT2, SACS, ELMO2, HNRNPK, SCN10A, PDGFRA, MAT1A, NOS2A, EPS15L1, GJA8, KIF20A, SPAG17, MAZ, TRPA1, ARL6IP1, ERGIC1, MEF2C, IQCJ, HOXA11, RYR1, NFIX, SLC25A10, NPPC, PRPS1, SSBP1, CDX2, COQ5, DCC, NTN1, FUZ, TRAF3IP1, LBR, REEP1, TEKT1, AMMECR1, FZD2, NXN, GPC4, RAC3, MED13L, SLC25A1)
Pan220 Niemann-Pick disease (NPC1, NCPC2, SMPD1)
Pan93 Noonan, LEOPARD, Costello and CFC syndromes, classic (BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, SHOC2, SOS1, SPRED1)
Pan140 Noonan, LEOPARD, Costello and CFC syndromes, expanded (A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS2, SHOC2, SOS1, SOS2, SPRED1)
Pan152 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)
Pan96 Optic atrophy (ACO2, AUH, CISD2, DNAJC19, MFN2, MTND3, OPA1, OPA3, RTN4IP1, SERAC1, SPG7, TIMM8A, TMEM126A, TWNK, WFS1, YME1L1, mtDNA)
Pan97 Osteogenesis imperfecta (ANO5, ALPL, BMP1, COL1A1, COL1A2, COL2A1, CREB3L1, CRTAP, FKBP10, IFITM5, LRP5, P3H1, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, YY1AP1, WNT1)
Pan98 Osteopetrosis (CA2, CLCN7, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFSF11, TNFRSF11A)
Pan156 Overgrowth syndromes (AKT1, AKT3, APC2, CCND2, CDKN1C, DIS3L2, DNMT3A, EED, EZH2, GNAQ, GPC3, HIST1H1E, MTOR, NFIX, NSD1, OFD1, PDGFRB, PIK3CA, PIK3R2, RNF125, TCF20)
Pan99 Pancreatic cancer (APC, ATM, BMPR1A, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS1, PMS2, PRSS1, SMAD4, STK11)
Pan100 Pancreatitis (PRSS1, SPINK1, CFTR, CTRC)
Pan102 Parkinsons disease (SNCA, LRRK2, VPS35, PRKN, PINK1, PARK7, ATP13A2, PLA2G6, FBXO7, DNAJC6)
Pan103 Periodic fever syndrome (ELANE, LPIN2, MEFV, MVK, NLRP3, PSTPIP1, TNFRSF1A)
Pan235 Perrault syndrome (CLPP, ERAL1, HARS2, HSD17B4, LARS2,  TWNK)
Pan104 Pheochromocytoma (MAX, PRKAR1A, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL)
Pan221 Poikiloderma spectrum (FAM111B, FERMT1, RECQL4, USB1)
Pan105 Polycystic kidney disease and its differential diagnosis, classic (HNF1B, LRP5, PAX2, PKD1, PKD2, PKHD1, PRKCSH, SEC63, UMOD, VHL)
Pan143 Polycystic kidney disease and its differential diagnosis, extended (GANAB, HNF1B, LRP5, PAX2, PKD1, PKD2, PKHD1, PRKCSH, SEC63, TSC1, TSC2, UMOD, VHL)
Pan171 Polydactyly, 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)
Pan106 Pontocerebellar hypoplasia, classic (CASK, CHMP1A, EXOSC3, RARS2, SEPSECS, TSEN2, TSEN34, TSEN54, VRK1)
Pan137 Pontocerebellar hypoplasia, extended (AMPD2, CASK, CHMP1A, CLP1, EXOSC3, EXOSC8, PCLO, RARS2, SEPSECS, TSEN15, TSEN2, TSEN34, TSEN54, VPS53, VRK1)
Pan236 Porencephaly and schizencephaly (COL4A1, COL4A2, EMX2, SHH, SIX3)
Pan216 Porphyria Spectrum Disorders (ALAD, ALAS2, CPOX, FECH, HFE, HMBS, PPOX, UROD, UROS)
Pan237 Premature ovarian failure (BMP15, DIAPH2, ERCC6, FANCM, FIGLA, FLJ22792, FOXL2, GDF9, HFM1, MCM8, MSH5, NOBOX, NR5A1, STAG3, SYCE1)
Pan28 Primary ciliary dyskinesia (ARMC4, C21ORF59, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, DNAAF1, DNAAF3, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DYX1C1, GAS8, HEATR2, HYDIN, KTU, LRRC6, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, TTC25, TXNDC3, ZMYND10)
Pan238 Primary congenital glaucoma and its differential diagnosis (CYP1B1, FOXC1, GNAQ, LTBP2, NF1, NHS, OCRL, PAX6, PITX2, SLC4A11, TEK, WT1)
Pan239 Primary hyperoxaluria (AGXT, GRHPR, HOGA1)
Pan192 Primary microcephaly (MFSD2A, STIL, SASS6, ASPM, KIF14, NCAPH, COPB2, CEP135, WDFY3, CENPE, CDK6, MCPH1, CDK5RAP2, NCAPD3, NCAPD2, PHC1, CIT, ANKLE2, CENPJ, KNL1, CEP152, WDR62, ZNF335)
Pan222 Progeroid 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)
Pan95 Progressive external ophthalmoplegia and its differential diagnosis (ACADS, DNA2, DGUOK, MGME1, OPA1, POLG, POLG2, RNASEH1, RRM2B, RYR1, SLC25A4, TK2, TWNK, VARS2, mtDNA)
Pan155 Pseudohypoaldosteronism (CUL3, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4)
Pan240 Pseudoxanthoma elasticum (ABCC6, ENNP1, GGCX)
Pan107 Refsum disease (PEX1, PEX2, PEX26, PEX7, PHYH)
Pan108 Renal cancer (EPCAM, FH, FLCN, HNF1A, HNF1B, MET, MITF, MLH1, MSH2, MSH6, PMS1, PMS2, PTEN, SDHB, SDHD, TSC1, TSC2, VHL, WT1)
Pan187 Renal 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, WNK4, XDH)
Pan142 Retinitis 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)
Pan109 Retinitis pigmentosa, extended (ABCA4, AGBL5, AIPL1, ARL3, ARL6, BBS2, BEST1, C2ORF71, C8ORF37, CA4, CDHR1, CERKL, CLRN1, CNGA1, CNGB1, CRB1, CRX, CYP4V2, DHDDS, EYS, FAM161A, FSCN2, GUCA1B, HGSNAT, IDH3B, IMPDH1, IMPG2, IFT172, KIZ, KLHL7, LRAT, MAK, MERTK, NEK2, NR2E3, NRL, OFD1, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RDH12, REEP6, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SLC7A14, SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A, ZNF408, ZNF513)
Pan131 Rett and Rett-like syndrome disorders (MECP2, FOXG1, CDKL5, MEF2C, TCF4, GABRD, WDR45, SMC1A).
Pan110 RIDDLE 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).
Pan112 Seckel syndrome (ATR, RBBP8, CENPJ, CEP152, CEP63)
Pan188 Severe congenital neutropenia (CSF3R, ELANE, G6PC3, GFI1, HAX1, JAGN1, VPS45, WAS)
Pan166 Skeletal 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)
Pan164 Skeletal dysplasias, extended (ACP5, AGPS, ALPL, ARSE, B3GAT3, BGN, BMPR1B, BMP2, C21orf2, CANT1, CHST3, COL10A1, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CRTAP, DDR2, DYM, EBP, EIF2AK3, FGFR3, FLNB, GALNS, GDF5, GLB1, GPX4, HSPG2, IHH, IMPAD1, INPPL1, KIF22, LBR, P3H1, LIFR, LONP1, MATN3, MMP13, MMP9, NANS, NEK1, NKX3-2, NOG, NSDHL, PAM16, PAPSS2, PCYT1A, PITX1, PTH1R, RNU4ATAC, ROR2, RSPRY1, RUNX2, SBDS, SLC26A2, SMARCAL1, SOX9, TRAPPC2, TRIP11, TRPV4, WISP3, XYLT1)
Pan113 Skin cancer (CDKN2A, EPCAM, MC1R, MITF, MLH1, MSH2, MSH6, PMS1, PMS2, PTCH1, XRCC3)
Pan196 Smith-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, 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)
Pan114 Spastic paraplegia, autosomal dominant/recessive (ATL1, AP4M1, BSCL2, CYP7B1, FA2H, GJC2, HSPD1, KIAA0196, KIF1A, KIF5A, NIPA1, PNPLA6, REEP1, RTN2, SLC33A1, SPAST, SPG7, SPG11, SPG20, SPG21, ZFYVE26, ZFYVE27)
Pan241 Spermatogenic failure (AK7, AURKC, BRDT, CATSPER1, CEP19, CFAP43, CFAP44, CFAP69, DNAH1, DPY19L2, FANCM, KLHL10, MEIOB, NANOS1, NR5A1, PMFBP1, PLCZ1, SEPT12, SLC26A8, SOHLH1, SPATA16, SPINK2, SUN5, SYCE1, SYCP3, TAF4B, TEX11, TEX14, TEX15, TDRD9, TSGA10, ZMYND15)
Pan115 Spherocytosis (ANK1, EPB42, SLC4A1, SPTA1, SPTB)
Pan242 Spinal 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)
Pan160 Spinocerebellar ataxia, basic – SCA types 1, 2, 3, 6, 7, 17 ( ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, TBP)
Pan161 Spinocerebellar 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)
Pan111 Spinocerebellar ataxia, classic (ABCB7, ADCK3, AFG3L2, ANO10, APTX, ATXN1, ATXN2, ATXN3, ATXN7, ATN1, BEAN1, CACNA1A, CACNA1G, CCDC88C, DNMT1, EEF2, ELOVL4, FGF14, GRID2, GRM1, FXN, IFRD1, ITPR1, KCNC3, KCND3, PDYN, PMPCA, POLG, PRKCG, RNF216, RUBCN, SACS, SETX, SNX14, SPTBN2, SYNE1, SYT14, TBP, TDP1, TGM6, TRPC3, TTBK2, TTPA, TWNK, WWOX)
Pan158 Spinocerebellar 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)
Pan159 Spinocerebellar 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, 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)
Pan162 Spinocerebellar ataxia, full stepwise (ABCB7, ADCK3, AFG3L2, ANO10, APTX, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, ATXN8OS, ATXN10, ATN1, BEAN1, CACNA1A, CACNA1G, CCDC88C, CWF19L1, DNMT1, EEF2, ELOVL4, ELOVL5, FGF14, GRID2, GRM1, FMR1, FXN, IFRD1, ITPR1, KCNC3, KCND3, NOP56, PDYN, PMPCA, POLG, PPP2R2B, PRKCG, RNF216, RUBCN, SACS, SCYL1, SETX, SLC9A1, SNX14, SPTBN2, STUB1, SYNE1, SYT14, TBP, TDP1, TDP2, TGM6, TMEM240, TRPC3, TTBK2, TTPA, TWNK, UBA5, VWA3B, WDR73, WWOX)
Pan146 Spondylometaphyseal 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)
Pan116 Stargardt disease (ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, PROM1, PRPH2, RP1L1, RPGR, TIMP3, RIMS1)
Pan117 Stickler syndrome (COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2)
Pan145 Sudden death (ABCC9, ACTN2, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CASQ2, CAV3, CSRP3, DES, DPP6, DSC2, DSG2, DSP, DTNA, FBN1, FGF12, GJA5, GPD1L, CN4, JPH2, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMP2, LDB3, LMNA, LRP6, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, NEXN, NPPA, NUP155, PKP2, PLN, PRKAG2, RANGRF, RBM20, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SEMA3A, SLMAP, SNTA1, TCAP, TGFB3, TGFBR2, TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, VCL)
Pan118 Surfactant metabolism dysfunction (ABCA3, CSF2RA, CSF2RB, SFTPA1, SFTPB, SFTPC, SFTPD)
Pan193 Syndromic 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] (TRAIP, CEP63, ATR, NSMCE2, DNA2, CENPJ, NIN, CEP152, RBBP8, ORC1, ORC4, GMNN, ORC6, CDT1, CDC6, CDC45L, MCM5, PCNT, RNU4ATAC, KIF5C, KIF2A, TUBB2A, TUBB2B, TUBB, TUBB3, TUBG1, TUBA8, RELN, LAMB1, CDK5, TUBA1A, TMTC3, NDE1, KATNB1, MDLS, PAFAH1B1, ARX, DCX, ADAR, IFIH1, TREX1, RNASEH2A, RNASEH2C, RNASEH2B, SAMHD1, EPRS, PYCR2, GJC2, HSPD1, AIMP1, RARS, POLR1C, AIMP2, TMEM106B, FAM126A, POL3A, HIKESHI, VPS11, POLR3B, UFM1, TUBB4A, PLP1, ARCN1, ARFGEF2, BRCA1, CASK, CRIPT, DIAPH1, DONSON, EIF2S3, GEMIN4, IER3IP1, KATNB1, KIF11, LIG4, MASP1, MED17, MEIS2, MRE11A, MSMO1, NDE1, NHEJ1, PCDH12, PLAA, PLEKHG2, PLK4, PNKP, PPP1R15B, PRUNE1, QARS, RTTN, SARS, SLC1A4, SLC25A19, STAMPB, THOC6, TRAPPC6B, TRMT10A, TUBGCP4, TUBGCP6, VARS, XRCC2, XRCC4, TRIP13, CEP57, BUB1B, MYCN, MIR17HG, NIPBL, RAD21, SMC3, SMC1A, HDAC8, DHCR7, CREBBP, EP300, DPF2, SMARCE1, SMARCA4, SMARCB1, SMARCA2, PHGDH, PSAT1, RAB3GAP2, RAB3GAP1, RAB18, TBC1D20, TPRKB, OSGEP, WDR73, TP53RK, LAGE2, ZEB2, VPS13B, UBE3B, TRAPPC12, TELO2, SLC2A1, RECQL3, RBBP8, RAD50, PQBP1, NSDHL, CKAP2L, CENPF, C2CD3, OFD1, ATRX, CCDC88A, DCPS, DDX11, EHMT1, OCLN, USP18, NBN, MECP2, KMT2D, KDM6A, FOXG1, ASNS)
Pan119 Thrombocytopenia (ADAMTS13, GATA1, GP1BA, GP1BB, GP9, ITGA2B, ITGB3, MASTL, MYH9, MPL, RUNX1, WAS)
Pan180 Thrombophilia (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)
Pan120 Thyroid cancer (APC, PTEN, RET)
Pan224 Trichothiodystrophy (ERCC2, ERCC3, GTF2E2, GTF2H5, MPLKIP, RNF113A)
Pan121 Tuberous sclerosis (TSC1, TSC2) – EXOME PANEL/Ultra-deep sequencing/SNaPshot
Pan122 Ullrich muscular dystrophy (COL6A1, COL6A2, COL6A3)
Pan123 Urea 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 (C2ORF25) , MUT, NAGS, OTC, PC, PCCA, PCCB, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC7A7, SUCLA2, SUCLG1, TMEM70)
Pan124 Usher syndrome type I, II, III and its differential diagnosis (ADGRV1, CDH23, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, RPGR, TIMM8A, USH1C, USH1G, USH2A, WHRN)
Pan125 Vitreoretinopathy and Wagner syndrome (COL2A1, FZD4, LRP5, NDP, TSPAN12, VCAN)
Pan126 Waardenburg syndrome (EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR)
Pan127 Walker-Warburg syndrome (FKRP, FKTN, ISPD, LARGE1, POMT1, POMT2)
Pan168 Weill-Marchesani and Weill-Marchesani-like syndrome (ADAMTS10, ADAMTS17, FBN1, LTBP2)
Pan223 Xeroderma pigmentosum and its differential diagnosis (DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, GTF2E2, GTF2H5, MPLKIP, POLH, RECQL4 , SLC6A19, UVSSA, XPA, XPC)
Pan128 Zellweger syndrome (PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26)