Panels immediately available for testing at Breda Genetics. Incidental findings: upon request
>>> Panel list version: 9.9.5 – updated on: 10th March 2021 <<<
| Code | Panel |
|---|---|
| Pan1 | Acute myeloid leukemia (ARHGEF12, CBFB, CEBPA, FLT3, GATA2, JAK2, KIT, LPP, NPM1, NPM1, NSD1, PICALM, RUNX1, SH3GL1, TERT) |
| Pan149 | Adams-Oliver syndrome (ARHGAP31, DOCK6, DLL4, EOGT, ITGB4, NOTCH1, PLEC, RBPJ) |
| Pan2 | Aicardi-Goutières syndrome (ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1) |
| Pan3 | Albinism & 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.) |
| Pan132 | 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, NOTCH2NLC, PRNP, PSEN1, PSEN2, SIGMAR1, SORL1, TARDBP, TREM2, UBE3A, UBQLN2, VCP) |
| Pan6 | Amyotrophic 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) |
| Pan162 | 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 (ABCB6, ALDH1A3, ALX1, BCOR, BMP4, CAPN15, COX14, COA5, CHD7, COX6B1, CRYAA, CRYBA4, CRYBB2, CRYGD, DPYD, DYRK1A, ERCC6, ESCO2, EYA1, FASTKD2, FOXE3, FOXL2, FRAS1, FREM1, FREM2, GDF3, GDF6, GJA1, GLI3, HCCS, HDAC6, HESX1, HMGB3, HMX1, IKBKG, ISPD, KERA, KIF11, MAB21L2, MAF, MBTPS2, MFRP, MYRF, NAA10, NDP, NHS, OCLN, OTX2, PAX2, PAX6, PHGDH, PITX3, POMT1, PORCN, PQBP1, PRR12, PRSS56, PUF60, RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, RBP4, RIPK4, SALL2, SALL4, SHH, SIX3, SIX6, SLC36A2, SLC6A19, SLC6A20, SMAD4, SMCHD1, SMOC1, SOX2, STRA6, TBC1D20, TBX1, TENM3, TFAP2A, TGFB2, VAX1, VCAN, VSX1, VSX2, WDR73, ZBTB20, ZIC2) |
| Pan8 | Aortic aneurysm, familial thoracic (ACTA2, COL3A1, FBN1, FBN2, FOXE3, LOX, LTBP3, MFAP5, MYH11, MYLK, PRKG1, SLC2A10, SMAD3, SMAD4, TGFBR1, TGFBR2, TGFB2, THSD4) |
| Pan9 | Arrhythmia, 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) |
| Pan10 | Arrhythmogenic right ventricular cardiomyopathy (DSP, DSG2, DSC2, JUP, PKP2, RYR2, TGFB3, TMEM43) |
| Pan11 | Arthrogryposis, distal, and other limb contractures (ADCY6, BEST3, ECEL1, ERGIC1, 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) |
| Pan93 | Ataxia-oculomotor apraxia (APTX, MAG, PIK3R5, SETX, PNKP) |
| Pan13 | Autism 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) |
| Pan253 | Autoinflammatory immunodeficiencies (CARD14, IL10RA, IL10RB, IL1RN, IL36RN, ISG15, LPIN2, MEFV, MVK, NLRP12, NLRP3, NOD2, PLCG2, PSMB8, PSTPIP1, RBCK1, SH3BP2, TNFRSF1A) |
| Pan190 | 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, IFT172, LZTFL1, MKKS, MKS1, MKS3, SDCCAG8, TRIM32, TTC8, WDPCP) |
| Pan15 | Bartter syndrome (BSND, CASR, CLCNKA, CLCNKB, KCNJ1, SLC12A1, SLC12A3) |
| Pan170 | Basal cell nevus syndrome [Gorlin or Gorlin-Goltz syndrome] (PTCH1, PTCH2, SUFU) |
| Pan16 | Bethlem myopathy (COL6A1, COL6A2, COL6A3, COL12A1) |
| Pan191 | Bohring-Opitz syndrome and its differntial diagnosis (ASXL1, ASXL2, ASXL3, CD96, HDAC8, KLHL7, NIPBL, RAD21, SMC1A, SMC3) |
| Pan177 | 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) |
| Pan193 | 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) |
| Pan173 | Breast-ovarian cancer, essential (BRCA1, BRCA2) |
| Pan18 | Brugada syndrome (CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, TRPM4, SCN1B, SCN3B, SCN5A) |
| Pan192 | Burn-McKeown syndrome and Treacher-Collins syndrome (POLR1C, POLR1D, TCOF1, TXNL4A) |
| Pan198 | Camurati-Engelman disease and its differential diagnosis (FAM111A, LRP5, SOST, TBXAS1, TGFB1, TNFRSF11B) |
| Pan199 | 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, CAP2, CSRP3, CRYAB, DES, DMD, DSG2, EYA4, FKTN, GATAD1, HAND1, HAND2, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, PPP1R13L, PRDM16, PSEN1, PSEN2, RBM20, SCN5A, SDHA, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL) |
| Pan21 | Cardiomyopathy, 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) |
| Pan200 | 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, DNMBP, EPHA2, FYCO1, GCNT2, GJA3, GJA8 , HSF4, LEMD2, LIM2, LSS , MAF, MIP, NHS , PITX3 , SIPA1L3, TDRD7, UNC45B, VIM, WFS1) |
| Pan152 | 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) |
| Pan201 | 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, LBX1) |
| Pan244 | Centronuclear myopathy (BIN1, DNM2, CCDC78, MTM1, MTMR14, MYF6, PLAGL1, SPEG, RYR1) |
| Pan25 | Cerebellar ataxia (ADCK3, APTX, COQ2, COQ9, DNMT1, FXN, PDSS1, PDSS2, POLG, RNU12, SACS, SETX, SYNE1, TTPA, VLDLR) |
| Pan133 | Cerebroretinal microangiopathy with calcifications and cysts – Coats plus syndrome – and its differential diagnosis (CTC1, JAM2, POT1, SNORD118, SLC20A2, PDGFRB, PDGFB) |
| Pan202 | 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, 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) |
| Pan194 | Cherubism and its differential diagnosis (FMR1, GNAS, NF1, PTPN11, SH3BP2, SOS1) |
| Pan146 | Cholestasis and bile acid synthesis defect (ABCB11, ABCB4, ABCD3, ACOX2, AKR1D1, AMACR, ATP8B1, CYP7B1, HSD3B7, LSR, MYO5B, NR1H4, USP53, TJP2) |
| Pan195 | 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) |
| Pan222 | Chronic granulomatous disease (CYBA, CYBB, CYBC1, NCF1, NCF2, NCF4) |
| Pan267 | Cicardian rhythm variations (ARNTL, ARNTL2, BHLHE40, BHLHE41, CLOCK, CRY1, CRY2, CSNK1E, CSNK2A1, DEC2, FBXL3, FBXL21, NFIL3, NR1D1, NR1D2, PER1, PER2, PER3, RORA, RORB, RORC, TIMELESS) |
| Pan203 | Coffin-Lowry syndrome and its differential diagnosis (ATRX, ELN, MED12, PHF6, RPS6KA3, TCF4 ) |
| Pan30 | Coffin-Siris syndrome (ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX4, SOX11) |
| Pan31 | Colon & gastric cancer, with/without polyposis (APC, BMPR1A, CDH1, MLH1, MLH3, MSH2, MSH6, MUTYH, NTHL1, PMS1, PMS2, PTEN, SMAD4, STK11, EPCAM) |
| Pan247 | Common variable immunodeficiency (CD19, CD81, CR2, ICOS, IKZF1, IL21, IRF2BP2, LRBA, MS4A1, NFKB1, NFKB2, TNFRSF13B, TNFRSF13C) |
| Pan32 | Cone-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) |
| Pan257 | Congenital adrenal hyperplasia (CYP11B1, CYP21A2, CYP17A1, HSD3B2, POR, STAR) |
| Pan245 | Congenital bile acid synthesis defect (ABCD3, ACOX2, AKR1D1, AMACR, CYP7B1, HSD3B7) |
| 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, GALNT2, MAGT1, MGAT2, MOGS, MPDU1, MPI, PMM2, RFT1, SLC35A1, SLC35C1) |
| Pan187 | 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) |
| Pan205 | 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 (ABCA12, ABHD5, ALOX12B, ALOXE3, CASP14, CERS3, CYP4F22, FATP4, LIPN, NIPAL4, PNPLA1, SREBF1, SDR9C7, ST14, SULT2B1, TGM1) |
| Pan204 | Congenital insensitivity to pain (CLTCL1, NGF, NTRK1, PRDM12, SCN9A, SCN11A, HPRT1, IKBKAP, MPV17, ZFHX2) |
| Pan34 | Congenital 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) |
| Pan223 | Congenital stationary night blindness (CACNA1F, GNAT1, GNB3, GRK1, GRM6, GPR179, LRIT3, NYX, PDE6B, RHO, RIMS2, SAG, SLC24A1, TRPM1) |
| Pan35 | Cornelia de Lange syndrome (ANKRD11, EP300, HDAC8, NIPBL, RAD21, SMC1A, SMC3, MAU2) |
| Pan142 | Craniosynostosis, 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) |
| Pan216 | Cutis laxa (ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, FBLN5, LTBP4, PYCR1) |
| Pan164 | Cystic 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) |
| Pan137 | Deafness, 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) |
| 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, 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) |
| Pan261 | Dementia with Lewy bodies (APOE, GBA, CYP2D6, LRRK2, PRNP, PSEN2, SNCA, SNCB) |
| 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, EIF2B1, 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) |
| Pan264 | Diarrhea, congenital, chronic (DGAT1, EPCAM, GUCY2C, MYO5B, NEUROG3, PERCC1, PLVAP, SLC26A3, SLC9A3, SPINT2, STX3, STXBP2, WNT2B) |
| Pan157 | 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) |
| Pan134 | Dyskeratosis congenita and its differential diagnosis (ACD, CTC1, DKC1, NHP2, NOP10, PARN, POT1, RETL1, SNORD118, TERC, TERT, TINF2, TPP1, WRAP53) |
| Pan171 | Dyslipidemia (ABCA1, ABCG5, ABCG8, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOC3, APOE, CETP, CYP27A1, LCAT, LDLR, LDLRAP1, LIPA, LIPC, LMF1, LPL, MTTP, PCSK9, SAR1B, SLCO1B1) |
| Pan172 | 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, 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) |
| Pan180 | 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, DLG4, EFEMP1, EMILIN1, FBN1, FBN2, FLNA, MED12, MYH11, MYLK, PLOD1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB) |
| Pan44 | Epidermolysis 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) |
| Pan217 | Epilepsy familial adult myoclonic (ADRA2B, CNTN2, FAME3, FAME4, RAPGEF2, SAMD12, TNRC6A) |
| Pan218 | Epilepsy familial focal with variable foci (DEPDC5, NPR2L, NPR3L, SCN3A) |
| Pan219 | Epilepsy progressive myoclonic (CERS1, CSTB, EPM2A, GOSR2, KCNC1, KCTD7, LMNB2, NHLRC1, PRDM8, PRICKLE1, SCARB2) |
| Pan236 | Epilepsy, 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) |
| Pan220 | Epilepsy, familial temporal lobe (CPA6, ETL2, ETL3, ETL4, ETL6, GAL, LGI1) |
| Pan45 | Epilepsy, 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) |
| Pan221 | Epilepsy, nocturnal frontal lobe (CHRNA2, CHRNA4, CHRNB2, ENFL2, KCNT1) |
| Pan46 | Epileptic 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) |
| 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) |
| Pan259 | Erythrocytosis (BPGM, EGLN1, EPAS1, EPOR, HBA1, HBA2, HBB, JAK2, SH2B3, VHL) |
| Pan243 | Exostoses, multiple [ostoechondromatosis](EXT1, EXT2) |
| Pan129 | 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) |
| Pan176 | Familial hyperinsulinism (ABCC8, KCNJ11, GLUD1, GCK, HK1, HADH, HNF4A, HNF1A, INSR, SLC16A1, UCP2) |
| Pan181 | 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, RAD51, RAD51C, RFWD3, SLX4, UBE2T, XRCC2) |
| Pan175 | Febrile seizures and GEFS+ (ADGRV1, CPA6, GABRD, GABRG2, SCN1A, SCN1B, SCN9A, STX1B) |
| Pan51 | Female 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) |
| Pan189 | Fetal akinesia deformation sequence and multiple pterygium syndrome [incl. Escobar syndrome] (CHRNA1, CHRND, CHRNG, CNTN1, DOK7, NUP88, RAPSN, SLC18A3, SYNE1) |
| Pan138 | 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, RYR1, SCO1, SCO2, SLC16A1, SPR, STIM1, SURF1, TACO1, TNFRSF1A, TNXB) |
| Pan240 | Fibrous dysplasia/McCune-Albright syndrome and its differential diagnosis (GNAS, HRAS, NF1, NRAS, SH3BP2) |
| Pan52 | Fleck retina, choroideremia and age-related macular degeneration (ABCA4, CFH, CFB, CHM, EFEMP1, PLA2G5, PIKFYVE, RDH5, RLBP1, RS1, TIMP3) |
| Pan207 | Floating-Harbor Syndrome and its differential diagnosis (CCDC8 , CREBBP, CUL7, EP300, OBSL1, SRCAP) |
| Pan208 | 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, TBC1D8B, TRPC6, WT1) |
| Pan54 | Frontotemporal dementia (CHMP2B, GRN, VCP, FUS, TARDBP, C9orf72 , MAPT, SIGMAR1, UBQLN2) |
| Pan251 | Galactosemia (GALE, GALK1, GALM, GALT) |
| Pan209 | 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) |
| Pan196 | Griscelli syndrome and infantile sialic acid storage disorder (MLPH, MYO5A, RAB27A, SLC17A5) |
| Pan263 | Hemolytic 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) |
| Pan224 | 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 ) |
| Pan148 | 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.) |
| Pan188 | Hereditary sensory and autonomic neuropathy (ATL1, ATL3, DNMT1, DST, ELP1, GBF1, KIF1A, NGF, NTRK1, PRDM12, RETREG1, SCN11A, SCN9A, SPTLC1, SPTLC2, WNK1) |
| Pan60 | Heterotaxy, visceral, Tetralogy of Fallot, VATER & VACTERLX 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](ANKRD11, ARID1A, ARID1B, EP300, HDAC8, HNRNPK, NIPBL, KMT2A, KMT2D, KDM6A, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, RAD21) |
| Pan63 | Holoprosencephaly (CDON, FGF8, GLI2, GLI3, PTCH1, SHH, SIX3, TGIF1, ZIC2) |
| Pan242 | Hyper-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) |
| Pan265 | Hyper-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) |
| Pan145 | Hyperaldosteronism, familial, and its differential diagnosis (CACNA1D, CACNA1H, CYP11B1, CYP11B1/CYP11B2 fusion gene, CLCN2, HSD11B2, KCNJ5, NR3C1, NR3C2, SCNN1B, SCNN1G) |
| Pan260 | Hypercalcemia (AP2S1, CASR, CYP24A1, GNA11, SLC34A1) |
| Pan64 | Hyperekplexia (ARHGEF9, GLRA1, GLRB, GPHN, SLC6A5) |
| Pan131 | Hypophosphatemic rickets (PHEX, CLCN5, FGF23, DMP1, ENPP1, SLC34A3) |
| Pan168 | 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) |
| Pan165 | 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) |
| Pan262 | Isolated growth hormone deficiency (GH1, GHRHR, BTK, RNPC3) |
| Pan77 | Joubert & 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) |
| Pan135 | Joubert 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) |
| Pan256 | Kabuki syndrome (KDM6A, KMT2D) |
| Pan65 | Kallmann 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) |
| Pan66 | Leber congenital amaurosis (AIPL1, CABP4, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13 , LCA5, LRAT, NMNAT1, OTX2, PRPH2, RD3, RDH12, RIMS2, RPE65, RPGRIP1, SPATA7, TULP1) |
| Pan140 | Left ventricular noncompaction (ACTC1, ACTN2, CSRP3, DTNA, LDB3, LMNA, MIB1, MYBPC3, MYH7, NNT, PKP2, PLN, RYR2, SGCD, TAZ, TCAP, TNNT2, TPM1) |
| 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, DGES1, DHFR, DHH, DLL4, DNM2, DOCK6, DPYS, DYRK1A, EARS2, EDNRB, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ENTPD1, EPG5, ERCC2, ERCC6, ERCC8, FA2H, FAM126A, FBXL4, FGD4, FGFRL1, FIG4, FKRP, FOLR1, FOXC1, FOXG1, FOXRED1, GAA, GALC, GAN, GBE1, GCDH, GDAP1, GFAP, GFM1, GJA1, GJB1, GJC2, GLB1, GLUL, GLYCTK, GNAO1, GRM7, GRN, HEPACAM, HEXA, HSD17B4, HSPD1, HTRA1, IBA57, IDUA, IER3IP1, IFIH1, ISCA2, ITPA, KARS, KCNJ10, KCNT1, L2HGDH, LAMA1, LAMA2, LAMB1, LARGE1, LETM1, LIPT1, LITAF, LMNB1, LRPPRC, LYRM7, MAPT, MARS2, MAT1A, MCOLN1, MEF2C, MLC1, MOCS1, MOCS2, MPV17, MPZ, MRPS22, MTFMT, MTTP, MUT, NADK2, NDRG1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEFL, NFU1, NGLY1, NOTCH1, NOTCH3, NRXN1, NSD2, NUBPL, OCRL, PAFAH1B1, PC, PCDH12, PDYN, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PHGDH, PHYH, PIGA, PLEKHG2, PLP1, PMP22, POLG, POLR1C, POLR3A, POLR3B, POMK, POMT1, PPP2R1A, PRKDC, PRPS1, PRX, PSAP, PSEN1, PTEN, PURA, PYCR2, QARS, RARS, RBPJ, RHOA, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, RPIA, RPS6KC1, SAMHD1, SBF2, SCP2, SDHA, SDHAF1, SDHB, SDHD, SEPSECS, SH3TC2, SHANK3, SHPK, SLC16A2, SLC17A5, SLC1A4, SLC25A1, SLC25A12, SLC25A22, SLC33A1, SLC35A2, SLC46A1, SLC6A8, SNIP1, SOX10, SPATA5, SPG11, SPG20, SPTAN1, SQSTM1, SSR4, STAMBP, STAT1, STXBP1, SUMF1, SURF1, SYNE1, TACO1, TAF2, TARS2, TM4SF20, TMEM126B, TMEM165, TMEM187, TMEM70, TRAPPC9, TREM2, TREX1, TRMT10A, TRMT5, TSC1, TSEN54, TUBB2A, TUBB4A, TUFM, TYMP, TYROBP, UBE2A, UPB1, VARS2, VCP, VPS11, WWOX, ZEB2, ZFYVE26, ZNF335) |
| Pan69 | Limb-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) |
| Pan70 | Lissencephaly (APC2, ARX, CDK5, DCX, KATNB1, NDE1, KATNB1, KIF2A, KIF5C, LAMB1, MACF1, PAFAH1B1, POMT1, POMT2, RELN, TMTC3, TUBA1A, TUBB2A, TUBB2B, TUBB, TUBB3, TUBG1, TUBA8) |
| Pan71 | Long QT syndrome (AKAP9, ANK2, CACNA1C, CALM1, CALM2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SCN10A, SNTA1) |
| Pan233 | Lysosomal acid lipase deficiency (Wolman/CESD and its differential diagnosis ) |
| Pan72 | Lysosomal 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 ) |
| Pan169 | 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 (AK7, AR, ARMC2, AURKC, AZF, BRDT, C14ORF39, CATSPER1, CATSPER2, CEP112, CFAP43, CFAP44, CFAP58, CFAP58, CFAP65, CFAP69, CFAP70, CFAP91, CFTR, DEFB126, DEFB128, DNAH1, DNAH17, DNAH2, DNAH8, DPY19L2, DZIP1, FANCM, FSHR, FSIP2, HSF2, KLHL10, LHCGR, M1AP, MAATS1, MEIOB, MSH4, MSH5, NANOS1, NR5A1, PICK1, PLCZ1, PLK4, PMFBP1, PPP2R3C, QRICH2, SEPT12, SLC26A8, SOHLH1, SPAG17, SPATA16, SPEF2, SPINK2, STX2, SUN5, SYCE1, SYCP2, SYCP3, TAF4B, TDRD9, TEX11, TEX14, TEX15, TSGA10, TTC21A, TTC29, TTC29, USP9Y, WDR66, XRCC2, ZMYND15)) |
| Pan74 | Malignant hyperthermia (CACNA1S, TRPV1, RYR1) |
| Pan75 | Maple syrup urine disease (BCKDHA, BCKDHB, DBT, DLD) |
| Pan76 | Marfan syndrome and related disorders (ACTA2, COL3A1, COL5A1, COL5A2, DLG4, EFEMP1, 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) |
| Pan185 | Meier Gorlin syndrome and microcephalic primordial dwarfism (DONSON, ORC1, ORC4, GINS3, 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, NEXMIF, KDM5C, L1CAM, LAMP2, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1, MTM1, NDP, NDUFA1, NHS, NLGN3, NLGN4X, NSDHL, NXF5, OCRL, OFD1, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PLP1, PORCN, PQBP1, PRPS1, RAB39B, RPL10, RPS6KA3, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TIMM8A, TSPAN7, UBE2A, UPF3B, ZCCHC12, ZDHHC9, ZDHHC15, ZNF41, ZNF81, ZNF674, ZNF711) |
| Pan80 | 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 | 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) |
| Pan167 | 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) |
| Pan160 | Mitochondrial DNA depletion syndromes (AGK, DGUOK, FBXL4, MGME1, MPV17, OPA1, POLG, RRM2B, SLC25A4, SUCLA2, SUCLG1, TFAM, TK2, TWNK.) |
| Pan83 | MODY (ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KLF11, NEUROD1, PAX4, PDX1, RFX6, ZFP57) |
| Pan197 | Moebius syndrome (PLXND1, ?REV3L ) |
| Pan249 | Moebius syndrome (PLXND1, REV3L, TUBB3) |
| Pan215 | Mucolipidosis (GNPTAB, GNPTG, MCOLN1 ) |
| Pan84 | Mucopolysaccharidosis (ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, IDS, IDUA, NAGLU, SGSH) |
| Pan85 | Multiple epiphyseal dysplasia (COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2) |
| Pan128 | 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) |
| Pan86 | 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, SVIL) |
| Pan158 | Myopathies 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) |
| Pan239 | Myopia (ARR3, CFAP53, CPSF1, HS6ST2, LRPAP1, P4HA2, SCO2, SLC39A5, ZNF644) |
| Pan87 | 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.) |
| Pan88 | Nephronophthisis (ADAMTS9, NPHP1, INVS, NPHP3, NPHP4, IQCB1, CEP290, GLIS2, RPGRIP1L, NEK8, SDCCAG8) |
| Pan100 | Neurodegeneration with brain iron accumulation [NBIA] (ATP13A2, C19orf12, COASY, CP, CRAT, DCAF17, FA2H, FTL, PANK2, PLA2G6, REPS1, WDR45) |
| Pan90 | Neurofibromatosis (NF1, NF2, SPRED1) |
| Pan26 | Neuronal ceroid lipofuscinosis (ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1) |
| Pan91 | Neuronal 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) |
| Pan210 | Niemann-Pick disease (NPC1, NCPC2, SMPD1 ) |
| Pan92 | Noonan, LEOPARD, Costello and CFC syndromes, classic (BRAF, CBL, HRAS, KRAS, MAPK1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RRAS2, SHOC2, SOS1, SPRED1) |
| Pan139 | Noonan, 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) |
| Pan147 | 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) |
| Pan67 | 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) |
| Pan95 | Optic atrophy (ACO2, AUH, CISD2, DNAJC19, MFN2, OPA1, OPA3, RTN4IP1, SERAC1, SPG7, TIMM8A, TMEM126A, TWNK, WFS1, YME1L1, mtDNA) |
| Pan96 | Osteogenesis 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) |
| Pan97 | Osteopetrosis (CA2, CLCN7, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFSF11, TNFRSF11A) |
| Pan151 | Overgrowth 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) |
| Pan98 | Pancreatic cancer (APC, ATM, BMPR1A, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS1, PMS2, PRSS1, SMAD4, STK11) |
| Pan99 | Pancreatitis (PRSS1, SPINK1, CFTR, CTRC, TRPV6) |
| Pan266 | Panhypopituitarism (GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, SOX2, SOX3) |
| Pan101 | Parkinsons 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) |
| Pan102 | Periodic fever syndrome (ELANE, LPIN2, MEFV, MVK, NLRP3, NLRP12, PSTPIP1, TNFRSF1A) |
| Pan235 | Periodic paralysis, hyperkalemic, hypokalemic, thyrotoxic, and Andersen-Tawil syndrome (CACNA1S, KCNJ18, KCNJ2, RYR1, SCN4A) |
| Pan225 | Perrault syndrome (CLPP, ERAL1, HARS2, HSD17B4, LARS2, TWNK) |
| Pan103 | Pheochromocytoma (DLST, MAX, PRKAR1A, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL) |
| Pan211 | Poikiloderma spectrum (FAM111B, FERMT1, RECQL4, USB1) |
| Pan104 | Polycystic kidney disease and its differential diagnosis, classic (HNF1B, LRP5, PAX2, PKD1, PKD2, PKHD1, PRKCSH, SEC63, UMOD, VHL) |
| Pan29 | Polycystic kidney disease and its differential diagnosis, extended (GANAB, HNF1B, LRP5, PAX2, PKD1, PKD2, PKHD1, PRKCSH, SEC63, TSC1, TSC2, UMOD, VHL) |
| Pan166 | 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) |
| Pan105 | Pontocerebellar hypoplasia, classic (CASK, CHMP1A, EXOSC3, RARS2, SEPSECS, TSEN2, TSEN34, TSEN54, VRK1) |
| Pan136 | Pontocerebellar hypoplasia, extended (AMPD2, CASK, CHMP1A, CLP1, EXOSC3, EXOSC8, PCLO, RARS2, SEPSECS, TSEN15, TSEN2, TSEN34, TSEN54, VPS53, VRK1) |
| Pan226 | Porencephaly and schizencephaly (COL4A1, COL4A2, EMX2, SHH, SIX3) |
| Pan206 | Porphyria spectrum disorders (ALAD, ALAS2, CPOX, FAH, FECH, GATA1, HFE, HMBS, PPOX, UROD, UROS) |
| Pan227 | Premature ovarian failure (BMP15, DIAPH2, ERCC6, FANCM, FIGLA, FLJ22792, FOXL2, GDF9, HFM1, MCM8, MSH5, NOBOX, NR5A1, POLR3H, STAG3, SYCE1, TP63) |
| Pan28 | Primary 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) |
| Pan228 | Primary congenital glaucoma and its differential diagnosis (CYP1B1, FOXC1, GNAQ, LTBP2, NF1, NHS, OCRL, PAX6, PITX2, SLC4A11, SPATA13, TEK, WT1) |
| Pan58 | Primary hemophagocytic lymphohistiocytosis and its differential diagnosis (PRF1, UNC13D, STX11, STXBP2, RAB27A, XIAP, SH2D1A, LYST) |
| Pan229 | Primary hyperoxaluria (AGXT, GRHPR, HOGA1) |
| Pan183 | Primary 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) |
| Pan212 | 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) |
| Pan94 | Progressive external ophthalmoplegia and its differential diagnosis (ACADS, DNA2, DGUOK, MGME1, OPA1, POLG, POLG2, RNASEH1, RRM2B, RYR1, SLC25A4, TK2, TWNK, VARS2, mtDNA) |
| Pan150 | Pseudohypoaldosteronism (CUL3, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4) |
| Pan230 | Pseudoxanthoma elasticum (ABCC6, ENNP1, GGCX) |
| Pan106 | Refsum disease (PEX1, PEX2, PEX26, PEX7, PHYH) |
| Pan107 | Renal cancer (EPCAM, FH, FLCN, HNF1A, HNF1B, MET, MITF, MLH1, MSH2, MSH6, PMS1, PMS2, PTEN, SDHB, SDHD, TSC1, TSC2, VHL, WT1) |
| Pan178 | 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, WDR72, WNK4, XDH) |
| Pan258 | Retinal 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) |
| Pan141 | 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) |
| Pan108 | Retinitis 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) |
| Pan130 | Rett and Rett-like syndrome disorders (MECP2, FOXG1, CDKL5, JMJD1C, MEF2C, TCF4, GABBR2, GABRD, GRIN1, WDR45, SMC1A.) |
| Pan109 | 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.) |
| Pan246 | Rubinstein-Taybi syndrome (CREBBP, EP300) |
| Pan254 | Seckel syndrome (ATR, CEP152, CEP63, CENPJ, DNA2, NIN, NSMCE2, RBBP8, TRAIP) |
| Pan179 | Severe congenital neutropenia (CSF3R, ELANE, G6PC3, GFI1, HAX1, JAGN1, VPS45, WAS) |
| Pan161 | 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) |
| Pan159 | Skeletal 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) |
| Pan112 | Skin cancer (CDKN2A, EPCAM, MC1R, MITF, MLH1, MSH2, MSH6, PMS1, PMS2, PTCH1, XRCC3) |
| Pan186 | 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, 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) |
| Pan255 | Sotos syndrome (NFIX, NSD1, APC2) |
| Pan113 | Spastic 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) |
| Pan231 | Spermatogenic 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) |
| Pan114 | Spherocytosis (ANK1, EPB42, SLC4A1, SPTA1, SPTB) |
| Pan232 | 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) |
| Pan155 | Spinocerebellar ataxia, basic – SCA types 1, 2, 3, 6, 7, 17 (ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, TBP) |
| Pan156 | 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) |
| Pan110 | Spinocerebellar 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) |
| Pan153 | 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) |
| Pan154 | 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, 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) |
| Pan144 | 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) |
| Pan115 | Stargardt disease (ABCA4, BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, PROM1, PRPH2, RP1L1, RPGR, TIMP3, RIMS1) |
| Pan116 | Stickler syndrome (BMP4, COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, LOXL3) |
| Pan143 | Sudden 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) |
| Pan117 | Surfactant metabolism dysfunction (ABCA3, CSF2RA, CSF2RB, NKX2-1, OAS1, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD) |
| Pan184 | 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] (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) |
| Pan118 | Thrombocytopenia (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) |
| Pan174 | 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) |
| Pan119 | Thyroid cancer (APC, PTEN, RET) |
| Pan241 | Thyroid hormone resistance and congenital nongoitrous hypothyroidism (NKX2-5, PAX8, THRA, THRB, TSHB, TSHR ) |
| Pan214 | Trichothiodystrophy (ERCC2, ERCC3, GTF2E2, GTF2H5, MPLKIP, RNF113A) |
| Pan120 | Tuberous sclerosis (TSC1, TSC2) |
| Pan121 | Ullrich muscular dystrophy (COL6A1, COL6A2, COL6A3) |
| Pan122 | 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, MUT, NAGS, OTC, PC, PCCA, PCCB, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC7A7, SUCLA2, SUCLG1, TMEM70) |
| Pan123 | Usher syndrome type I, II, III and its differential diagnosis (ADGRV1, CDH23, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, RPGR, TIMM8A, USH1C, USH1G, USH2A, WHRN) |
| Pan237 | Vitelliform macular dystrophy, other macular dystrophies and their differential diagnosis, basic (ABCA4, BEST1, CFB, CFH, CNGB3, EFEMP1, ELOVL4, IMPG1, IMPG2, PROM1, PRPH2, RP1L1, TIMP3) |
| Pan238 | Vitelliform 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) |
| Pan124 | Vitreoretinopathy and Wagner syndrome (COL2A1, FZD4, LRP5, NDP, TSPAN12, VCAN) |
| Pan125 | Waardenburg syndrome (EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR) |
| Pan126 | Walker-Warburg syndrome (FKRP, FKTN, ISPD, LARGE1, POMT1, POMT2) |
| Pan163 | Weill-Marchesani and Weill-Marchesani-like syndrome (ADAMTS10, ADAMTS17, FBN1, LTBP2) |
| Pan234 | X-linked/autosomal lymphoproliferative syndromes (CD27, ITK, SH2D1A, XIAP) |
| Pan213 | Xeroderma pigmentosum and its differential diagnosis (DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, GTF2E2, GTF2H5, MPLKIP, POLH, RECQL4 , SLC6A19, UVSSA, XPA, XPC) |
| Pan127 | Zellweger syndrome (PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26) |
| Pan250 | Zimmermann-Laband syndrome (ATP6V1B2, KCNH1, KCNN3) |
