List of Panels

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

Panels

Pan1 Acute myeloid leukemia (ARHGEF12, CBFB, CEBPA, FLT3, GATA2, JAK2, KIT, LPP, NPM1, NPM1, NSD1, PICALM, RUNX1, SH3GL1, TERT)
Pan154 Adams-Oliver syndrome (ARHGAP31, DOCK6, DLL4, EOGT NOTCH1, RBPJ)
Pan2 Aicardi-Goutières syndrome (ADAR, 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, 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 (ADCY6, ECEL1, FBN1, FBN2, MYBPC1, MYH3, MYH8, PIEZO2, TNNI2, TNNT3, TPM2)
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)
Pan14 Bardet-Biedl syndrome (ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CCDC28B, CEP290, LZTFL1, MKKS, MKS1, MKS3, SDCCAG8, TRIM32, TTC8, WDPCP)
Pan15 Bartter Syndrome (ATP6V1B1, BSND, CA2, CASR, CLCNKA, CLCNKB, CLDN16, CLDN19, FXYD2, HSD11B2, KCNJ1, KCNJ10, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A3, SLC4A1, SLC4A4, WNK1, WNK4)
Pan16 Bethlem myopathy (COL6A1, COL6A2, COL6A3, COL12A1)
Pan17 Breast and ovarian cancer, hereditary (ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, MRE11A, NBN, PALB2, RAD50, RAD51C, RAD51D, PTEN, STK11, TP53)
Pan18 Brugada syndrome (CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, SCN1B,SCN3B, SCN5A)
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)
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)
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)
Pan26 Ceroid lipofuscinosis (CLN3, CLN5, CLN6, CLN8, CTSD, DNAJC5, MFSD8, PPT1, TPP1)
Pan27 Charcot-Marie-Tooth neuropathy axonal/demyelinating & Dejerine Sottas syndrome (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)
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)
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)
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)
Pan33 Congenital ichthyosis (ALOX12B, ABCA12, ALOXE3, CYP4F22, LIPN, NIPAL4, PNPLA1, TGM1)
Pan34 Congenital myasthenic syndrome (AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, GFPT1, LAMB2, MUSK, PLEC, RAPSN, SCN4A)
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)
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)
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 (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 (ADC, CTC1, DKC1, NHP2, NOP10, POT1, RETL1, SNORD118, TERC, TERT, TINF2, WRAP53)
Pan41 Dystonias (TOR1A, THAP1, GCH1, TH, SPR, SLC2A1, PRRT2, PNKD, SGCE)
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)
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)
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)
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)
Pan50 Fanconi anemia (BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, SLX4, XRCC2)
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)
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)
Pan35 Focal Glomerulonephrosis/Nephrotic syndrome (ACTN4, ANLN, CD2AP, CRB2, INF2, LAMB2, MYO1E, NPHS1, NPHS2, PAX2, PLCE1, TRPC6, WT1)
Pan53 Focal Glomerulonephrosis/Nephrotic syndrome (ACTN4, ANLN, CD2AP, CRB2, INF2, LAMB2, MYO1E, NPHS1, NPHS2, PAX2, PLCE1, TRPC6, WT1)
Pan54 Frontotemporal dementia (CHMP2B, GRN, VCP, FUS, TARDBP, C9orf72 , MAPT, SIGMAR1, UBQLN2)
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 & other metabolic myopathies (ABHD5, ACADM, ACADL, ACAD9, ACADVL, AGL, AMPD1, C10orf2, COA5, COX6B1, COX10, COX14, CPT1B, CPT2, CTDP1, ENO3, ETFA, ETFB, ETFDH, FASTDK2, GAA, GBE1, GYG1, GYS1, HADHA, HADHB, ISCU, LDHA, LPIN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PNPLA2, POLG, POLG2, PRKAG2, PUS1, PYGM, RRM2B, SLC16A1, SLC22A5, SLC25A20, SUCLA2, TACO1, TAZ, TK2, TYMP, YARS2)
Pan57 Glycosylation disorders (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)
Pan58 Hemophagocytic lymphohistiocytosis and its differential diagnosis (PRF1, UNC13D, STX11, STXBP2, RAB27A, XIAP, SH2D1A, CHS1).
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).
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, TGIF1, 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)
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 (CHD7, FGFR1, FGF8, GNRHR, GNRH1, KAL1, KISS1R, PROK2, PROKR2, SEMA3A, TAC3, TACR3)
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 and peroxisome biogenesis disorders (ABCD1, AIMP1, ARSA, ASPA, BEST1, CSF1R, CYP27A1, DARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FA2H, FAM126A, GALC, GFAP, GJC2, HEPACAM, HSPD1, MLC1, NDUFV1, NOTCH3, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SDHA, SLC16A2, SOX10, SUMF1, TREM2, TREX1, HSD17B4, LMNB1, PEX11B, PHYH, SCP2, SDHAF1, TYROBP)
Pan69 Limb-girdle muscular dystrophy (ANO5, CAPN3, CAV3, DAG1, DNAJB6, DYSF, FKRP, FKTN, LAMA2, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, SEPN1, 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, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1)
Pan72 Lysosomal storage disease (ARSA, FUCA1, GALC, GBA, GLB1, GNPTAB, GUSB, HEXA, HEXB, MAN2B1, MANBA, NAGA, SMPD1)
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)
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)
Pan165 Mitochondrial DNA depletion syndromes (AGK, C10ORF2, DGUOK, FBXL4, MGME1, MPV17, OPA1, POLG, RRM2B, SLC25A4, SUCLA2, SUCLG1, TFAM, TK2).
Pan84 MODY (ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KLF11, NEUROD1, PAX4, PDX1, RFX6, ZFP57)
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, inclusion body myopathy 2, dyspherlinopathy & Laing distal myopathy (BAG3, CRYAB, DES, DNAJB6, DYSF, FHL1, GNE, FLNC, LDB3, MYH7, MYOT)
Pan163 Myopathies and neuromuscular disorders, comprehensive (ACTA1, ACVR1, ANO5, ATP2A1, B3GALNT2, BAG3, BIN1, C10orf2, 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, HNRNPA1, HNRNPA2B1, IGHMBP2, ISCU, ISPD, ITGA7, KBTBD13, KCNJ2, KLHL40, KLHL41, KLHL9, LAMA2, LAMP2, LARGE, 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, PTPLA, PUS1, RRM2B, RYR1, SCN4A, SELENON, SEPN1, SGCA, SGCB, SGCD, SGCG, SIL1, SPEG, SQSTM1, STAC3, STIM1, SUCLA2, SYNE1, TCAP, TIA1, TK2, TMEM5, TNNI2, TNNT1, TNPO3, TPM2, TPM3, TRIM32, TRPV4, TTN, 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, SEPN1, 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)
Pan91 Neurofibromatosis (NF1, NF2, SPRED1)
Pan92 Neuronal migration disorders (ACTB, ACTG1, ARFGEF2, ARX, COL18A1, COL4A1, CPT2, DCX, EMX2, EOMES, FGFR3, FH, FKRP, FKTN, FLNA, GPR56, IER3IP1, ISPD, LAMA2, LAMC3, LARGE, MED12, MEF2C, OCLN, PAFAH1B1, PAX6, PEX7, POMGNT1, POMT1, POMT2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RELN, SNAP29, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3, WDR62)
Pan93 Noonan, LEOPARD, Costello and CFC syndromes, classic (BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SPRED1)
Pan140 Noonan, LEOPARD, Costello and CFC syndromes, expanded (BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RIT1, 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, GNAQ, GPC3, 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)
Pan101 Pantothenate kinase-associated neurodegeneration (ATP13A2, C19orf12, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45)
Pan102 Parkinsons disease (SNCA, LRRK2, VPS35, PARK2, PINK1, PARK7, ATP13A2, PLA2G6, FBXO7, DNAJC6)
Pan103 Periodic fever syndrome (ELANE, LPIN2, MEFV, MVK, NLRP3, PSTPIP1, TNFRSF1A)
Pan104 Pheochromocytoma (MAX, PRKAR1A, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL)
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)
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)
Pan28 Primary ciliary dyskinesia (ARMC4, C21ORF56, 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)
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)
Pan107 Refsum disease (PEX1, PEX2, PEX26, PEX7, PHYH)
Pan129 Remethylation disorders (MTHFR, MMACHC, MMADHC, MTRR, LMBRD1, MTR, ABCD4, CBS)
Pan108 Renal cancer (EPCAM, FH, FLCN, HNF1A, HNF1B, MET, MITF, MLH1, MSH2, MSH6, PMS1, PMS2, PTEN, SDHB, SDHD, TSC1, TSC2, VHL, WT1)
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)
Pan166 Skeletal dysplasias, classic (AGPS, ALPL, ARSE, B3GAT3, BMPR1B, BMP2, 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, LEPRE1, LIFR, MATN3, MMP13, MMP9, NKX3-2, NOG, NSDHL, PAPSS2, PCYT1A, PITX1, PTH1R, RMRP, RNU4ATAC, ROR2, RUNX2, SLC26A2, SMARCAL1, SOX9, TRAPPC2, TRIP11, TRPV4, WISP3, XYLT1)
Pan164 Skeletal dysplasias, extended (AGPS, ALPL, ARSE, B3GAT3, BGN, BMPR1B, BMP2, 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, LEPRE1, LIFR, LONP1, MATN3, MMP13, MMP9, NANS, NKX3-2, NOG, NSDHL, PAM16, PAPSS2, PCYT1A, PITX1, PTH1R, RMRP, 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)
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)
Pan115 Spherocytosis (ANK1, EPB42, SLC4A1, SPTA1, SPTB)
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, C10orf2, 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, WWOX)
Pan158 Spinocerebellar ataxia, classic plus (ABCB7, ADCK3, AFG3L2, ANO10, APTX, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, ATXN8OS, ATXN10, ATN1, BEAN1, C10orf2, 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, WWOX)
Pan159 Spinocerebellar ataxia, full at once (ABCB7, ADCK3, AFG3L2, ANO10, APTX, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, ATXN8OS, ATXN10, ATN1, BEAN1, C10orf2, 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, UBA5, VWA3B, WDR73, WWOX)
Pan162 Spinocerebellar ataxia, full stepwise (ABCB7, ADCK3, AFG3L2, ANO10, APTX, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, ATXN8OS, ATXN10, ATN1, BEAN1, C10orf2, 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, 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, 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)
Pan119 Thrombocytopenia (ADAMTS13, GATA1, GP1BA, GP1BB, GP9, ITGA2B, ITGB3, MASTL, MYH9, MPL, RUNX1, WAS)
Pan120 Thyroid cancer (APC, PTEN, RET)
Pan121 Tuberous sclerosis (TSC1, TSC2) – EXOME PANEL/Ultra-deep sequencing/SNaPshot
Pan122 Ullrich muscular dystrophy (COL6A1, COL6A2, COL6A3)
Pan123 Urea cycle disorder (ARG1, ASL, ASS1, CPS1, NAGS, OTC)
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, LARGE, POMT1, POMT2)
Pan168 Weill-Marchesani and Weill-Marchesani-like syndrome (ADAMTS10, ADAMTS17, FBN1, LTBP2)
Pan128 Zellweger syndrome (PEX1, PEX2, PEX3, PEX5, PEX6, PEX7, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26)