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Gen-Panels

Auswahl nach Alphabet
A B C D E F G H I J K L M
N O P Q R S T U V W X Y Z

 

Klinische Fragestellung

Gen-Panel

A
Achromatopsie (ACHM)
ATF6, CNGA3, CNGB3, GNAT2, NDRG4, PDE6C, XPNPEP2
Adipositas ALMS1, BBS1, BBS10, LEP, LEPR, MC4R, MKS1, PCSK1, POMC, SH2B1, BBIP1, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP290, IFT172, IFT27, LZTFL1, MKKS, SDCCAG8, TRIM32, TTC8, WDPCP
ADPKD (autosomal-dominante polyzystische Nierenerkrankung) PKD1, PKD2, GANAB, HNF1B, ACE, AGT, AGTR1, ANKS6, BBS1, BBS10, BBS12, BBS2, BBS7, BICC1, C9orf16, CEP164, CEP290, CYS1, DZIP1, DZIP1L, FAN1, GLIS2, GLIS3, INVS, IQCB1, KIF12, MKKS, MRE11A, MUC1, NEK8, NPHP1, NPHP3, NPHP4, PATJ, PKHD1, REN, RPGRIP1L, SDCCAG8, SLC41A1, TMEM67, TRPC5, TTC21B, TULP3, UMOD, WDR19, XPNPEP3, ZNF423
Aicardi-Goutières-Syndrom ADAR, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1
Albinismus C10orf11, GPR143, MC1R, MITF, MYO5A, OCA2, RAB27A, SLC24A5, SLC45A2, TYR, TYRP1, AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, SLC38A8
Aldosteron-sensitives distales Nephron CUL3, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4, CYP11B1, CYP11B2, CYP21A2, HSD11B2, WNK3
Alport-Syndrom COL4A5, COL4A4, COL4A3, MYH9
Alström-Syndrom ALMS1
Alzheimer Demenz nach telefonischer Rücksprache
Amyotrophe Lateralsklerose (ALS) ALS2, ANG, C9orf72, CHMP2B, FIG4, FUS, OPTN, PFN1, PRPH, SIGMAR1, SOD1, TARDBP, UBQLN2, VAPB, VCP, DCTN1, NEFH, NR1H3, PON1, PON2, PON3, SETX, SMN1, SPG20, VEGFA, VPS54
Angelman-Syndrom ADSL, ATRX, CDKL5, EHMT1, FOXG1, MECP2, MEF2C, SLC9A6, TCF4, UBE3A, ZEB2
Anophthalmie/Mikrophthalmie SOX2, OTX2, STRA6, BCOR, HCCS, BMP4, SMOC1, ALDH1A3, GDF6, MFRP, PAX6, PQBP1, RAX, SHH, SIX6, VSX2, GDF3, ABCB6, ATOH7, BMP7, C12orf57, FOXE3, HESX1, HMGB3, PORCN, RARB, SALL2, TENM3, VAX1, YAP1
Aortopathie ACTA2, ADAMTS10, CBS, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBN1, FBN2, FLNA, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFBR1, TGFBR2
ARPKD (autosomal-rezessive polyzystische Nierenerkrankung) PKHD1, ACE, AGT, AGTR1, ANKS6, BBS1, BBS10, BBS12, BBS2, BBS7, BICC1, C9orf16, CEP164, CEP290, CYS1, DZIP1, DZIP1L, FAN1, GLIS2, GLIS3, HNF1B, INVS, IQCB1, KIF12, MKKS, MRE11A, MUC1, NEK8, NPHP1, NPHP3, NPHP4, PATJ, PKD1, PKD2, REN, RPGRIP1L, SDCCAG8, SLC41A1, TMEM67, TRPC5, TTC21B, TULP3, UMOD, WDR19, XPNPEP3, ZNF423
Arrhythmogene rechtsventrikuläre Dysplasie/ Kardiomyopathie (ARVD/ARVC) CTNNA3, DSC2, DSG2, DSP, JUP, LMNA, PKP2, RPSA, RYR2, TGFB3, TMEM43
Arthrogrypose ACTA1, ECEL1, FBN2, GLE1, MYBPC1, MYH3, TNNI2, TNNT3, TPM2, ADGRG6, ALG3, BIN1, CASK, CFL2, CHRNA1, CHRND, CHRNG, CHST14, CNTN1, COL6A2, DHCR24, DOK7, DPAGT1, EGR2, ERBB3, ERCC1, ERCC2, ERCC5, ERCC6, EXOSC3, FHL1, FKTN, GBA, GBA2, GBE1, IBA57, KAT6B, MED17, MEGF10, MPZ, MTM1, MYH13, MYH2, MYH8, NEB, PIP5K1C, PLOD2, PMM2, RAPSN, RARS2, RIPK4, SCARF2, SCO2, SEPN1, SEPSECS, TK2, TNNT1, TPM3, TRPV4, TSEN2, TSEN34, TSEN54, VIPAS39, VPS33B, VRK1
Ataktische Polyneuropathie ADCK3, AFG3L2, ANO10, APTX, ATXN1, ATXN2, ATXN3, ATXN8OS, DARS2, FGF14, FXN, IFRD1, MRE11A, NOP56, PEX10, PPP2R2B, RNF170, SACS, SIL1, TBP, TDP1, TTPA
Ataxie ABCB7, ABHD12, ADCK3, ADGRG1, AFG3L2, ALG6, ANO10, APTX, ATCAY, ATM, ATN1, ATP7B, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, BEAN1, BTD, C10orf2, CA8, CACNA1A, CAMTA1, CHMP1A, CP, CYP27A1, DARS2, DLAT, DNAJC19, DNMT1, EEF2, EXOSC3, FGF14, FLVCR1, FXN, GALC, GCLC, GRM1, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, MRE11A, MTPAP, NEU1, NOP56, NPC1, NPC2, OPHN1, OTUD4, PDHX, PDYN, PHYH, PIK3R5, PLA2G6, PLEKHG4, PMM2, POLG, PPP2R2B, PRKCG, RARS2, RNF170, RNF216, RUBCN, SACS, SETX, SIL1, SLC17A5, SLC1A3, SPR, SPTBN2, SYNE1, SYT14, TBP, TDP1, TGM6, TMEM216, TMEM67, TSEN2, TSEN34, TSEN54, TTBK2, TTPA, VLDLR, VRK1, WFS1, WWOX
Ataxie, autosomal-dominant AFG3L2, BEAN1, FGF14, ITPR1, KCNC3, PDYN, POLG, SPTBN2
Ataxie, autosomal-rezessiv ANO10, APTX, ATM, C10orf2, SETX, SIL1, TTPA
Auditorische Neuropathie DFNB59, DIAPH3, OTOF
B
Bardet-Biedl-Syndrom
BBS1, BBS10, BBS2, BBS12, BBS4, BBS7, BBS9, CEP290, MKKS, MKS1, TTC8, ALMS1, ARL6, ASAP1, BBIP1, BBS5, C8orf37, CBY1, CCDC28B, CEP131, CEP72, DHCR7, IFT172, IFT27, IKBKG, LZTFL1, PRICKLE2, RCBTB1, SDCCAG8, TRIM32, WDPCP
Bartter-/Gitelman-Syndrom AP2S1, BSND, CASR, CLCNKB, GNA11, KCNJ1, SLC12A1, SLC12A3, CFTR, CLCNKA, CLDN10, CLDN11, CLDN14, CLDN18, CLDN20, CLDN3, CLDN4, CLDN7, CLDN8, KCNJ10, KCNJ11, KCNJ16, MIR374A, MIR374B, MIR374C, MIR9-1, MUC1, NPHP1, SLC26A3, UMOD
BOR-Syndrom EYA1,SIX1,SIX5
Brugada-Syndrom ABCC9, CACNA1C, CACNA2D1, CACNB2, GPD1L, HCN4, KCND3, KCNE3, KCNE5, KCNJ8, PKP2, RANGRF, SCN10A, SCN1B, SCN2B,,SCN3B, SCN5A, SLMAP, TRPM4
Brust- und Ovarialkarzinom BRCA1, BRCA2, RAD51C, CHEK2, PALB2, TP53, ATM, CDH1, NBN, RAD51D
Burkitt-Lymphom CCND3, GNA13, ID3, MYC, TP53
C
C1Q-Defizienz
C1QA, C1QB, C1QC
C3-Glomerulopathien (C3G) siehe aHUS
CAKUT (Kongenitale Anomalien der Nieren und ableitenden Harnwege) BICC1, BMP4, EYA1, GATA3, HNF1B, ITGA8, PAX2, RET, ROBO2, SALL1, TBX18, ACE, AGT, AGTR1, CDC5L, CHD1L, DACT1, DSTYK, EMX2, FANCB, FRAS1, FREM1, FREM2, GDNF, GLIS3, HNF1A, LHX1, PAX8, REN, RET, RFX2, SALL4, SIX1, SIX2, SIX4, SIX5, SLIT2, SOX11, SOX17, SOX8, TUBAL3, UPK2, UPK3A, WNT4, WWTR1
CFHR5-Nephropathie siehe aHUS
Charcot-Marie-Tooth-Krankheit AARS, GARS, GDAP1, GJB1, HARS, HSPB1, KARS, KIF1B, MED25, MFN2, MPZ, NEFL, TRPV4, AMACR, ARHGEF10, BAG3, BSCL2, COX10, DHTKD1, DNAJB2, DNM2, DYNC1H1, EGR2, FBLN5, FGD4, FIG4, GANHINT1, HK1, HSPB8, INF2, LITAF, LMNA, LRSAM1, MT-ATP6, MTMR2, NDRG1, PDK3, PMP22, PRPS1, PRX, RAB7A, SBF2, SH3TC2, SLC12A6, TEKT3, TFG, YARS
CHARGE-Syndrom CHD7
Chediak-Higashi-Syndrom LYST
Chondrodysplasia punctata nach telefonischer Rücksprache
Cockayne-Syndrom ERCC6, ERCC8
Coenzym Q10-Mangel ADCK3, ANO10, APTX, COQ2, COQ6, COQ9, ETFA, ETFB, ETFDH, PDSS1, PDSS2
Cohesinopathien (z.B. Cornelia de Lange-Syndrom) nach telefonischer Rücksprache
Cornelia de Lange-Syndrom nach telefonischer Rücksprache
Cystinurie SLC3A1, SLC7A9
D
Dense-deposit-Krankheit (DDD)
siehe aHUS
Dent-Syndrom CLCN5, OCRL
Diabetes insipidus AQP2, AVPR2
Diabetes mellitus, monogener ABCC8, EIF2AK3, FOXP3, GATA6, GCK, HNF1A, HNF4A, INS, INSR, KCNJ11, PAX6, PDX1, SLC2A2, AGPAT2, ALMS1, BLK, BSCL2, CAV1, CDK4, CEL, CIDEC, CISD2, DNAJC3, GATA4, GLIS3, HNF1B, HYMAI, IER3IP1, KLF11, LMNA, LMNB2, MC4R, MNX1, NEUROD1, NEUROG3, NKX2-2, NTRK2, PAX4, PCSK1, PLAGL1, PPARG, PTF1A, PTRF, RFX6, SH2B1, SLC19A2, TRMT10A, WFS1, WRN, ZFP57, ZMPSTE24
Diabetes mellitus, neonataler ABCC8, EIF2AK3, FOXP3, GATA6, GCK, GLIS3, HNF1B, IER3IP1, INS, KCNJ11, MNX1, NKX2-2, PDX1, PTF1A, WFS1, ZFP57, CISD2, HNF1A, HNF4A, HYMAI, NEUROD1, NEUROG3, PLAGL1, RFX6, SLC19A2, SLC2A2
Diabetes, MODY ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1
Diffus-großzelliges B-Zell-Lymphom BTG1, CARD11, CD58, CD79B, CREBBP, EP300, EZH2, FOXO1, GNA13, GNAI2, KMT2D, MEF2B, MYD88, PCLO, PIM1, SOCS1, STAT3, TNFRSF14, TP53
Dyskeratosis congenita nach telefonischer Rücksprache
Dystonie nach telefonischer Rücksprache
E
EAST-Syndrom
KCNJ10
Ehlers-Danlos-Syndrom COL3A1, COL5A1, COL5A2, ADAMTS2, B4GALT7, CHST14, COL1A1, COL1A2, COL2A1, FKBP14, PLOD1, PRDM5, SLC39A13, TNXB, ZNF469
Ektodermale Dysplasie nach telefonischer Rücksprache
Ellis-van-Crefeld-Syndrom EVC, EVC2
Epidermolysis bullosa COL17A1, COL7A1, KRT14, KRT5, LAMA3, LAMB3, LAMC2, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KRT1, KRT10, MMP1, PKP1, PLEC
Epilepsien nach telefonischer Rücksprache
Epilepsien, metabolische nach telefonischer Rücksprache
Epileptische Enzephalopathie, frühinfantil links ALDH7A1, CHD2, KCNQ2, POLG, SCN1A, SCN2A, SLC2A1, ALG13, ARHGEF9, ARX, ATRX, CACNA1A, CACNA1H, CACNA2D2, CACNB4, CACNG4, CASR, CDKL5, CHRNA2, CHRNA4, CHRNB2, CLCN2, CNTNAP2, DNM1, DOCK7, EFHC1, EHMT1, FASN, FOXG1, GABBR2, GABRA1, GABRB3, GABRD, GABRG2, GAMT, GNAO1, GPHN, GRIN2A, GRIN2B, KCNA1, KCNA2, KCNB1, KCNJ10, KCNQ3, KCNT1, LGI1, MAPK10, MBD5, MECP2, MEF2C, MOCS1, MOCS2, NRXN1, PCDH19, PHF6, PIGQ, PLCB1, PNKP, PNPO, ROGDI, RYR3, SAMHD1, SCN1B, SCN8A, SCN9A, SLC25A22, SLC6A1, SLC9A6, SPTAN1, ST3GAL3, STXBP1, SYNGAP1, SZT2, TBC1D24, TCF4, UBE3A, WWOX, ZEB2
F
Familiäre exsudative Vitreoretinopathie (FEVR)
CAPN5, FZD4, KCNJ13, LRP5, NDP, RS1, TSPAN12, TUBGCP4, VCAN, ZNF408, COL11A1, COL18A1, COL2A1, COL9A1
Familiäre Hypercholesterinämie siehe Hypercholesterinämie
FAMMM-Syndrom BAP1, BRCA2, CDKN2A, MC1R, MITF, POT1, PTEN, TP53
Fanconi-Anämie BRCA2, BRIP1, FANCA, FANCC, FANCE, PALB2, FANCB, FANCD2, FANCF, FANCG, FANCI, FANCL, FANCM, RAD51C, SLX4, XRCC2
Fettsäureoxidationsstörungen ACADM, ACADS, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, HADHA, HADHB, SLC22A5, SLC25A20
Fokal-segmentale Glomerulosklerose (FSGS) ACTN4, CD2AP, COL4A3, COL4A4, COL4A5, INF2, TRPC6
Follikuläres Lymphom CREBBP, EP300, EZH2, KMT2D, MEF2B
Frontotemporale Demenz nach telefonischer Rücksprache
G
Gefleckte Retina-Syndrom
CHM, EFEMP1, PLA2G5, RDH5, RLBP1, RS1, VPS13B
Generalisierte Epilepsie mit Fieberkrämpfen plus GABRD, GABRG2, SCN1A, SCN1B, SCN2A
Geschlechtsentwicklung, Störungen AKR1C2, AKR1C4, AMH, AMHR2, AR, BMP15, CBX2, CLPP, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP21A2, DHH, DIAPH2, DMRT1, DMRT2, EIF4ENIF1, FIGLA, FOXL2, FSHB, FSHR, GATA4, GDF9, HARS2, HFM1, HHAT, HNF1B, HOXA13, HOXA7, HSD17B3, HSD17B4, HSD3B2, KLHL4, LARS2, LHCGR, LHX1, MAMLD1, MAP3K1, MCM9, NOBOX, NR0B1, NR5A1, PAX2, POF1B, POR, PSMC3IP, RSPO1, SF1, SOX3, SOX9, SRD5A2, SRY, STAG3, STAR, SYCE1, TBX6, WNT4, WNT9B, WT1, ZFPM2
Glaukom CNTNAP2, CYP1B1, FOXC1, FOXE3, LMX1B, LOXL1, LTBP2, MAF, MYOC, NTF4, OPTN, PITX2, WDR36, CAV1, CAV2, CDKN2B, ELOVL5, GALC, KLHL26, PAX6, PITX3, SIX1, SIX6, SRBD1, TBK1, TMCO1, TSHZ2
Gliedergürtelmuskeldystrophien (LGMD) ANO5, CAPN3, CAV3, DES, DYSF, FKRP, FKTN, GAA, LMNA, MYOT, SGCA, SGCB, SGCD, SGCG, TCAP, ALG2, DMD, DNAJB6, DOK7, GMPPB, PLEC, POMGNT1, POMT1, POMT2, TNPO3, TRAPPC11, TRIM32, TTN
Glomerulosklerose, fokal-segmentale (FSGS) ACTN4, CD2AP, COL4A3, COL4A4, COL4A5, INF2, TRPC6
Glukokortikoid-Defizienz, familiär CYP11A1, MC1R, MC2R, MCM4, MRAP, NNT, NR3C1, POMC, STAR
Glukoneogenese FBP1, PCK1, PCK2
Glykogenose AGL, G6PC, GBE1, GYS1, GYS2, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PRKAG3, PYGL, SLC37A4
Glykogenspeicherkrankheit AGL, FBP1, G6PC, GBE1, GYS1, GYS2, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PRKAG3, PYGL, SLC2A2, SLC37A4
H
Hämolytisch-urämisches Syndrom, atypisch (aHUS)
ADAMTS13, C3, CD46, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, THBD
Hereditäre motorisch-sensorische Neuropathie (axonal) AARS, GARS, GDAP1, GJB1, HARS, HSPB1, KARS, KIF1B, MED25, MFN2, MPZ, NEFL, TRPV4
Hereditäre motorisch-sensorische Neuropathie (demyelinisierend) FBLN5, FGD4, FIG4, GDAP1, GJB1, LITAF, MPZ, MTMR2, NEFL, PMP22, PRX, SBF2, SH3TC2
Hereditäre motorisch-sensorische Neuropathie (HMSN) AARS, AMACR, ARHGEF10, BAG3, BSCL2, COX10, DHTKD1, DNAJB2, DNM2, DYNC1H1, EGR2, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, HARS, HINT1, HK1, HSPB1, HSPB8, IGHMBP2, INF2, KARS, KIF1B, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MPZ, MT-ATP6, MTMR2, NDRG1, NEFL, PDK3, PMP22, PRPS1, PRX, RAB7A, SBF1, SBF2, SH3TC2, SLC12A6, TEKT3, TFG, TRPV4, TTR, YARS
Hereditäre sensorische und autonome Neuropathie (HSAN) ATL1, DNMT1, FAM134B, KIF1A, NGF, NTRK1, RAB7A, SPTLC1, SPTLC2, WNK1, CCT5, DST, FLVCR1, IKBKAP, PRNP, SCN9A
Hermansky-Pudlak-Syndrom AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6
Heterotaxie-Syndrom nach telefonischer Rücksprache
Holoprosenzephalie nach telefonischer Rücksprache
Hornhautdystrophie COL8A2, CYP4V2, DCN, FOXE3, KLHL20, LOXHD1, SLC4A11, TGFBI, VSX1, ZEB1, AGBL1, COL17A1, TCF4
Hypercholesterinämie APOB, LDLR, LDLRAP1, PCSK9, STAP1
Hyperekplexie nach telefonischer Rücksprache
Hyperinsulinismus ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, INSR, KCNJ11, KCNQ1, KDM6A, SLC16A1, UCP2, ALG3, CACNA1C, KMT2D, MAFA, MPI, NSD1, PAX6, PGM1, PMM1, PMM2, TRMT10A
Hyperoxalurie AGXT, GRHPR, HOGA1, SLC26A1
Hypertriglyceridämie, familiär APOA5, APOC2, APOC3, GPD1, GPIHBP1, LMF1, LPL
Hypoglykämie ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, INSR, KCNJ11, KCNQ1, KDM6A, SLC16A1, UCP2, AKT2, ALDH7A1, ALG3, CACNA1C, CD36, GYS1, GYS2, KMT2D, MAFA, MEF2C, MPI, NSD1, PAX6, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHOX2B, PIK3CA, PIK3R2, PMM1, PMM2, PTEN, PYGL, SLC2A2, TALDO1, TRMT10A
Hypogonadotroper Hypogonadismus ANOS1, CHD7, FGF8, FGFR1, GNRH1, GNRHR, KISS1, KISS1R, NSMF, PROK2, PROKR2, TAC3, TACR3, WDR11, HS6ST1, SEMA3A
Hypomagnesiämie CASR, CLCNKB, CLDN16, CLDN19, CNNM2, FXYD2, HNF1B, KCNA1, SLC12A3, TRPM6, BSND, CNNM1, CNNM3, CNNM4, EGF, FAM111A, KCNJ10, MAGT1, MMGT1, MRS2, MT-TI, NIPA1, NIPA2, PCBD1, SLC41A1, SLC41A2, SLC41A3, TRPM3, TRPM7, TUSC3
Hypophosphatämische Rachitis/Phosphatdiabetes ALPL, CLCN5, CYP27B1, DMP1, ENPP1, FAH, FGF23, KL, OCRL, PHEX, SLC34A1, SLC34A3, SLC9A3R1, VDR, SLC17A1, SLC17A2, SLC17A3, SLC20A1, SLC20A2, SLC34A2
Hypopituitarismus GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, SHH, SOX2, SOX3, ANOS1, CHD7, GHR, GNRH1, GNRHR, HS6ST1, KISS1, KISS1R, NSMF, PROK2, SEMA3A, TAC3, TACR3, WDR11
Ichthyose und verwandte Keratinisierungsstörungen
nach telefonischer Rücksprache
I
Imerslund-Gräsbeck-Syndrom AMN, CUBN
Intrahepatische Cholestase bei Schwangerschaft ABCB11, ABCB4, ATP8B1, TJP2
J
Jervell- und Lange-Nielsen-Syndrom
KCNE1, KCNQ1
Jeune-Syndrom CEP120, DYNC2H1, IFT140, IFT172, IFT80, IFT88, TTC21B, WDR34
Joubert-Syndrom AHI1, CC2D2A, CEP290, NPHP1, RPGRIP1L, TMEM216, TMEM67, ARL13B, ATXN10, B9D1, B9D2, C2CD3, C5orf42, CENPF, CEP104, CEP120, CEP41, CSPP1, DDX59, EXOC8, GLI3, GPR161, HYLS1, IFT88, INPP5E, KIAA0556, KIAA0586, KIAA0753, KIF14, KIF7, MKS1, NPHP3, OFD1, PDE6D, PDPR, PIBF1, POC1B, RFX3, RFX4, SCLT1, SDCCAG8, TBC1D32, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM231, TMEM237, TTC21B, TULP3, WDR73, ZNF423
K
Kallmann-Syndrom
ANOS1, CHD7, FGF8, FGFR1, GNRH1, GNRHR, KISS1, KISS1R, NSMF, PROK2, PROKR2, TAC3, TACR3, WDR11, HS6ST1, SEMA3A
Kardio-fazio-kutanes Syndrom BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SPRED1, LZTR1, RASA2, SOS2
Kardiomyopathie, dilatativ ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EYA4, FKTN, GATAD1, GLA, ILK, JUP, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYPN, NEXN, PLN, PRDM16, PSEN1, PSEN2, RAF1, RBM20, SCN5A, SDHA, SGCD, TAZ, TBX20, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL
Kardiomyopathie, hypertroph ACTC1, ACTN2, CALR3, CAV3, CSRP3, DES, GLA, JPH2, LAMP2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PLN, PRKAG2, PSEN1, PSEN2, RBM20, SCN5A, SDHA, SGCD, SLC25A4, TAZ, TBX20, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL
Kartagener-Syndrom siehe Primäre ziliäre Dyskinesie (PCD)
Katarakt AGK, BFSP1, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGA, CRYGB, CRYGC, CRYGD, CRYGS, EYA1, GCNT2, GJA3, GJA8, HSF4, LIM2, MAF, MIP, PITX3, ABCA3, AGPS, AKR1E2, CLPB, CTDP1, CYP27A1, CYP51A1, EPG5, EPHA2, FAM126A, FAR1, FOXC1, FOXE3, FTL, FYCO1, GALK1, GALT, GNPAT, JAM3, MFSD6L, MIR184, MYH9, NHS, NID1, P3H2, PAX6, PEX7, PXDN, RNLS, SIL1, SLC16A12, SLC33A1, SORD, TBC1D20, TDRD7, TMEM114, VAV2, VAV3, VIM, VSX2, WFS1, XYLT2
Ketogenese-Störung HMGCL, HMGCS2
Ketolyse-Störung ACAT1, OXCT1
Kleinwuchs FGFR3, GH1, GHR, GHRH, GHRHR, HESX1, IGF1, IGF1R, IGF2, IGFALS, LHX3, LHX4, OTX2, PITX2, POU1F1, PROP1, SHOX, SOX3, STAT5B
Kolonkarzinom APC, BLM, BMPR1A, CDK7, ENG, EPCAM, FLCN, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PIK3CA, PMS1, PMS2, POLD1, POLE, PTEN, SMAD2, SMAD3, SMAD4, STK11, TGFBR1, TGFBR2, TP53
Kolonkarzinom, hereditäres nicht-polypöses (HNPCC) EXO1, MLH1, MSH2, MSH6, PMS2, TP53, EPCAM, MLH3, MSH3, PMS1, TGFBR2
Kombinierte Hypophysenhormon-Defizienz siehe Hypopituitarismus
Kongenitale Glykosylierungsstörung (CDG-Syndrom) nach telefonischer Rücksprache
Kongenitale Herzfehler nach telefonischer Rücksprache
Kraniosynostose nach telefonischer Rücksprachen
Kurzrippen-Polydaktylie-Syndrome DYNC2H1, IFT140, IFT80, NEK1, WDR34, WDR35, C21orf2, CEP120, DPH1, DYNC2LI1, EFR3A, EVC, EVC2, IFT122, IFT172, IFT43, KIAA0586, SMO, TCTEX1D2, TTC21B, TULP4, WDR19, WDR60
Kutanes T-Zell-Lymphom CD28, DNMT3A, PLCG1, RHOA, TP53
L
Lebersche congenitale Amaurose (LCA)
AIPL1, ALMS1, CEP290, GUCY2D, RPGRIP1, TULP1, ACBD5, ADAMTS18, BBS2, BBS4, CABP4, CCT2, CRB1, CRX, DHX38, DTHD1, GDF6, GRID2, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MPDZ, MYO7A, NMNAT1, OTX2, POC1B, RCBTB1, RD3, RDH12, RPE65, SPATA7, TRAF3IP1
Lebersche hereditäre Optikusneuropathie MT-ND1, MT-ND4, MT-ND6
Leigh-Syndrom AARS2, ACAD9, ADCK3, BCS1L, COQ2, COQ6, COQ9, COX10, COX15, FOXRED1, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SDHA, SURF1, C10orf2, DGUOK, EARS2, ECHS1, ETHE1, FBXL4, GFM1, LIAS, LIPT1, LRPPRC, MPV17, MTFMT, NDUFA1, NDUFAF5, NDUFS2, NDUFV1, PDHA1, PDSS1, PDSS2, PET100, POLG, RMND1, RRM2B, SCO1, SCO2, SERAC1, SLC19A3, SUCLA2, SUCLG1, TACO1, TK2, TMEM70, TRIT1, TRMU, TSFM, UQCRB
Leukämie, akute myeloische ASXL1, CEBPA, FLT3, GATA1, GATA2, IDH1, IDH2, KIT, KRAS, NPM1, NRAS, RUNX1, SRSF2, TP53, WT1, BCOR, DNMT3A, PTPN11, RAD21, STAG2, TET2, U2AF1
Leukämie, atypische chronische myeloische ASXL1, CBL, CSF3R, ETNK1, SETBP1, SRSF2, TET2
Leukämie, chronische lymphatische ATM, BIRC3, BTK, FBXW7, MYD88, NOTCH1, PLCG2, SF3B1, TP53, XPO1, CHD2, ZNF292
Leukämie, chronische myelomonozytäre ASXL1, CBL, EZH2, JAK2, KRAS, NRAS, RUNX1, SETBP1, SRSF2, TET2
Leukämie, T-Zell akute lymphoblastische CCR4, DNM2, DNMT3A, FAT1, FAT3, FBXW7, JAK3, KMT2D, NOTCH1, PHF6, PTEN, RUNX1, TP53, WT1
Leukoenzephalopathie AIMP1, ARSA, ASPA, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, GALC, GFAP, GJC2, HEPACAM, MLC1, NOTCH3, PLP1, PSAP,ADAR, FAM126A, HSPD1, L2HGDH, POLR3A, POLR3B, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SUMF1, TREX1
Linksventrikuläre Non-Compaction- Kardiomyopathie ACTC1, DTNA, LDB3, MIB1, MYBPC3, MYH7, NNT, PRDM16, TAZ, TNNT2, TPM1
Lissenzephalie ARX, DCX, FKRP, FKTN, LARGE, PAFAH1B1, POMGNT1, POMT1, POMT2, RELN, TU-BA1A, ACTB, ACTG1, ADGRG1, ARFGEF2, B3GALNT2, B4GAT1, COL18A1, COL4A1, CPT2, EMX2, EOMES, FGFR3, FH, FLNA, GMPPB, IER3IP1, ISPD, LAMA2, LAMB1, LAMC3, MED12, PAX6, PEX7, PIK3CA, PIK3R2, POMGNT2, POMK, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RTTN, SNAP29, SRPX2, TMEM5, TUBA8, TUBB2B, TUBB3, VDAC1, WDR62
Loeys-Dietz-Syndrom nach telefonischer Rücksprache
Long-QT-Syndrom ABCC9, ACTC1, ACTN2, AKAP9, ALG10, ANK2, ANKRD1, CACNA1C, CACNA1D, CACNA1G, CACNA2D1, CACNB2, CALM1, CALM2, CALR3, CASQ2, CAV3, CRYAB, CSRP3, DES, DMD, DOLK, DPP6, DSC2, DSG2, DSP, FHL1, FHL2, FKRP, FKTN, FXN, GATAD1, GLA, GPD1L, HCN1, HCN2, HCN4, HFE, JPH2, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMA4, LAMP2, LDB3, LMNA, MT-TL1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PDLIM3, PKP2, PLN, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RANGRF, RBM20, RYR2, RYR3, SCN1A, SCN1B, SCN3A, SCN3B, SCN4A, SCN4B, SCN5A, SDHA, SGCD, SLMAP, SNTA1, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPC1, TRPC2, TRPC3, TRPC4, TRPC5, TRPC6, TRPC7, TRPM4, TRPM7, VCL
Lysosomale Erkrankungen nach telefonischer Rücksprache
M
Magenkrebs
AMER1, CTNNB1, DKK2, DKK4, ERCC6, ERCC8, FZD1, MAP3K6, SPRED1, WIF1, WISP1, WNT1, WNT10A, WNT10B, WNT11, WNT2, WNT2B, WNT3, WNT4, WNT5A, WNT8A, WNT9A, WNT9B
Mainzer-Saldino-Syndrom DYNC2H1, IFT140, IFT172, WDR35
Maligne Hyperthermie nach telefonischer Rücksprache
Mamma-, Ovarialkarzinom BRCA1, BRCA2, CHEK2, PALB2, TP53, RAD51C, ATM, CDH1, NBN, PTEN, RAD51D, STK11
Mantelzell-Lymphom ATM, CCND1, NOTCH1, TP53, UBR5
Marfan-Syndrom FBN1, TGFBR1, TGFBR2, MED12, UPF3B, ZDHHC9
Meckel-Gruber-Syndrom B9D1, B9D2, CC2D2A, CEP290, MKS1, RPGRIP1L, TCTN2, TMEM216, TMEM231, TMEM67, AHI1, ARL13B, ATXN10, C5orf42, CEP120, CEP41, CSPP1, EXOC8, GLI3, HYLS1, IFT88, INPP5E, KIAA0586, KIF14, KIF7, NPHP1, NPHP3, OFD1, PDE6D, PDPR, POC1B, TCTN1, TCTN3, TMEM107, TMEM138, TMEM237, TTC21B, ZNF423
Medullär-zystische Nierenerkrankung (MCKD) HNF1B, REN, SEC61A1, UMOD, MUC1
Megalenzephalie nach telefonischer Rücksprache
Membranoproliferative Glomerulonephritis (MPGN) siehe aHUS
Metaphysäre Dysplasie nach telefonischer Rücksprache
Mikromele Dysplasie nach telefonischer Rücksprache
Mikrozephalie ASPM, ATR, CASC5, CDK5RAP2, CENPF, CENPJ, CEP135, CEP152, CEP164, CEP63, IER3IP1, KIF11, MCPH1, PCNT, PLK4, RTTN, SLC25A19, STIL, TRAPPC9, TUBB2B, WDR62
Mitochondriale Enzephalopathie AARS2, ACAD9, ACO2, ADCK3, AGK, AIFM1, ATP5A1, ATP5E, ATPAF2, AUH, BCS1L, BOLA3, C10orf2, CARS2, CLPB, COQ2, COQ4, COQ6, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX6B1, CPS1, CPT1A, CYC1, DARS2, DBT, DGUOK, DLAT, DLD, DNAJC19, DNM1L, EARS2, ECHS1, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FOXRED1, GARS, GFAP, GFER, GFM1, GFM2, GTPBP3, HADHA, HADHB, IBA57, ISCA2, LIAS, LIPT1, LRPPRC, LYRM7, MARS2, MFF, MICU1, MPC1, MPV17, MRPL3, MRPS16, MRPS22, MTFMT, MTO1, MTPAP, NADK2, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, OPA1, PANK2, PARS2, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PNPT1, POLG, PTCD1, PTRH2, PUS1, RARS2, RMND1, RRM2B, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHC, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A12, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC25A4, SLC33A1, SLC6A8, SPG7, STXBP1, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TIMM8A, TK2, TMEM70, TPK1, TRIT1, TRMU, TSFM, TTC19, TUFM, TYMP, UQCRB, UQCRC2, UQCRQ, VARS2, WFS1, YARS2
Mitochondrialer Atmungskettendefekt I nach telefonischer Rücksprache
Mitochondrialer Atmungskettendefekt II nach telefonischer Rücksprache
Mitochondrialer Atmungskettendefekt III nach telefonischer Rücksprache
Mitochondrialer Atmungskettendefekt IV nach telefonischer Rücksprache
Mitochondrialer Atmungskettendefekt V nach telefonischer Rücksprache
Mitochondriopathie 16 kb mitochondriales Genom
Morbus Menière DTNA, FAM136A
Morbus Waldenström ARID1A, CXCR4, KMT2D, MYD88
Mukopolysaccharidose ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH
Multiple epiphysäre Dysplasie und Pseudoachondroplasie nach telefonischer Rücksprache
Multiples Myelom BRAF, DIS3, FAM46C, KRAS, NRAS, TP53
Muskelatrophie, distale, spinale AR, ATP7A, BSCL2, DCTN1, DNAJB2, DYNC1H1, HSPB1, HSPB3, HSPB8, IGHMBP2, PLEKHG5, REEP1, SETX, SMN1, UBA1, VAPB, VRK1
Muskeldystrophien, kongenital ANO5, CAPN3, DMD, DYSF, FKRP, LMNA, ACTA1, B3GALNT2, B4GAT1, BIN1, CCDC78, CFL2, CHKB, CNTN1, COL6A1, COL6A2, COL6A3, DAG1, FHL1, FKTN, GBE1, GMPPB, ISPD, KBTBD13, KLHL40, KLHL41, LAMA2, LARGE, MEGF10, MTM1, NEB, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RYR1, SEPN1, TMEM5, TNNT1, TPM2, TPM3
Myasthenes Syndrom, kongenital AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, GFPT1, MUSK, RAPSN
Myelodysplastisches Syndrom ASXL1, CBL, CSNK1A1, EZH2, FLT3, KRAS, NPM1, NRAS, RUNX1, SF3B1, SRSF2, TP53, U2AF1, ZRSR2, DNMT3A, ETV6, RAD21, SETBP1, STAG2, TET2
Myeloproliferative Neoplasie ASXL1, CALR, CBL, CSF3R, DNMT3A, EZH2, IDH1, IDH2, JAK2, KIT, MPL, SETBP1, SF3B1, SRSF2, TET2, TP53, U2AF1
Myopathie, distal ACTA1, MYH7, RYR1, TMP3, VCP, ANO5, CAV3, CRYAB, DES, DYSF, FHL1, FLNC, GNE, KLHL9, LDB3, MATR3, MYH14, MYOT, NEB, TCAP, TIA1
Myopathie, metabolische nach telefonischer Rücksprache
Myotonie nach telefonischer Rücksprache
N
Nachtblindheit, kongenital
CABP4, CACNA1F, GNAT1, GPR179, GRK1, GRM6, NYX, PDE6B, SLC24A1, TRPM1, LRIT3, RHO
Neoplasie, multiple endokrine MEN1, RET
Nephrokalzinose nach telefonischer Rücksprache
Nephronophthise (NPHP) CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, TMEM67, AGXT, ANKS6, CEP164, CEP83, DCDC2, FAN1, GLIS2, HIST1H4G, IFT172, IFT81, MPDZ, MRE11A, MUC1, NEK8, PIP5K1A, RPGRIP1L, SDCCAG8, SLC41A1, SLIT3, TTC21B, TULP3, URAD, WDR19, XPNPEP3, ZNF423
Nephrotisches Syndrom, steroid-resistentes (SRNS) ADCK4, ARHGDIA, LAMB2, NPHS1, NPHS2, PLCE1, PTPRO, WT1, ACTN4, ALG13, ANLN, APOL1, ARHGAP24, ARHGEF17, AVIL, BPTF, CD151, CD2AP, CDK20, CLIC5, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, CRB2, CUBN, DGKE, DLC1, DLG5, DNM1, EMP2, FAT1, FN1, GCC1, GLA, GPC5, GPR161, HLA-DQA1, IL36G, INF2, IQGAP2, ITGA3, ITGB4, ITSN1, KANK1, KANK2, KANK4, KAT2B, KMO, LAMA5, LMX1B, LRP2, MAFB, MAGI2, MED28, MPDZ, MPP5, MT-TL1, MYH9, MYO1E, NPHP4, NUP107, NUP133, NUP205, NUP93, NXF5, PAX2, PDSS2, PLA2R1, PLCG2, PODXL, RAB7A, REST, SCARB2, SEC63, SGPL1, SMARCAL1, SPRY2, SULF2, TNS2, TRPC5, TRPC6, TTC21B, UBR4, VANGL2, WDR73, WNK4, XBP1, XPO5, XYLT1
Netzhautablösung CAPN5, CHM, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, EFEMP1, FBN1, FZD4, KCNJ13, LRP5, NDP, P3H2, PLA2G5, RDH5, RLBP1, RS1, TSPAN12, TUBGCP4, VCAN, VPS13B, ZNF408
Neurodegeneration mit Eisenspeicherung im Gehirn (NBIA) ATP13A2, C19orf12, COASY, CP, DCAF17, FA2H, FTL, GTPBP2, PANK2, PLA2G6, RAB39B, SCP2, WDR45
Neurofibromatose (NF) NF1, NF2, SPRED1
Neuronale Ceroid-Lipofuszinose (NCL) CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1
Neuronale Migrationsstörungen ACTB, ACTG1, ADGRG1, ARFGEF2, ARX, COL18A1, CPT2, DCX, EMX2, EOMES, FGFR3, FH, FLNA, IER3IP1, LAMA2, LAMB1, LAMC3, MED12, PAFAH1B1, PAX6, PEX7, PIK3CA, PIK3R2, PQBP1, RAB18, RAB3GAP1, RAB3GAP2, RELN, RTTN, SNAP29, SRPX2, TUBA1A, TUBA8, TUBB2B, TUBB3, VDAC1, WDR62
Neutrophilenleukämie, chronische ASXL1, CSF3R, SETBP1, SRSF2, TET2
Nicht-diabetische Hyperglykämie GLIS3
Nierenagenesie siehe CAKUT
Nierenhypo-/dysplasie siehe CAKUT
Nierenkarzinom BAP1, EPCAM, FH, FLCN, HNF1A, HNF1B, MET, MITF, PTEN, SDHA, SDHB, SDHC, SDHD, VHL, WT1, AKT1, ARID1A, C2CD4C, CDKN1C, CDKN2B, CHD3, CPQ, CRTC1, CTNNB1, CUL3, FAAH2, GSK3B, IGF2, KEAP1, LRP2, MR1, MTOR, NF2, NFE2L2, PBRM1, PDHB, PDXDC1, PIK3R1, PRKAG2, SETD2, SLC5A3, SLC9A3R1, TERT, TSC1, TSC2, ZNF765
Nierenstein-Erkrankungen ADCY10, AGXT, ATP6V0A4, CLCN5, CLDN16, CYP24A1, SLC22A12, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC7A9, SLC9A3R1, APRT, ATP6V1B1, BSND, CA2, CASR, CLCNKB, CLDN14, CLDN19, CYP27B1, FAM20A, GNA11, GRHPR, HNF4A, HOGA1, HPRT1, KCNJ1, OCRL, SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC17A3, SLC26A1, SLC26A6, SLC4A4, VDR, WNK1, WNK4, XDH
NK/T-Zell-Lymphom ARID1A, DDX3X, EP300, JAK3, KMT2D, MGA, STAT3, TP53
Noonan-Syndrom BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SPRED1, LZTR1, RASA2, SOS2
Norrie-Syndrom NDP
Nystagmus FRMD7, GPR143
O
Oligosaccharidose
AGA, CTSA, FUCA1, MAN2B1, MANBA, NAGA, NEU1
Optikusatrophie ANTXR1, ATP1A3, C12orf65, CISD2, FA2H, MFN2, MT-ND1, MT-ND4, MT-ND6, NR2F1, OPA1, OPA3, RTN4IP1, SPG7, TIMM8A, TMEM126A, UCHL1, WFS1, ACO2, SLC25A46
Oro-fazio-digitales Syndrom (OFD) C2CD3, C5orf42, DDX59, OFD1, SCLT1, TCTN3, TMEM107, TMEM231, KIAA0753, TBC1D32
Osteogenesis imperfecta BMP1, COL1A1, COL1A2, CRTAP, FKBP10, IFITM5, LRP5, P3H1, PPIB, SERPINH1, TMEM38B, WNT1, ALPL, CREB3L1, FKBP1A, P4HB, PLOD2, PLS3, SEC24D, SERPINF1, SP7, SPARC
P
Pankreaskarzinom
BRCA1, BRCA2, CDKN2A, PALB2, PALLD, STK11, TP53, APC, ATM, CFTR, MLH1, MSH2, MSH6, PRSS1, SPINK1
Pankreatitis, chronisch nach telefonischer Rücksprache
Parkinson-Syndrom nach telefonischer Rücksprache
Pena-Shokeir-Syndrom CHRNA1, CHRND, CHRNG, CNTN1, DNM2, DOK7, ERBB3, GLE1, MUSK, MYBPC1, PIP5K1C, RAPSN, ADCY6, ADGRG6, CNTNAP1, ZBTB42
Pendred-Syndrom FOXI1, KCNJ10, SLC26A4
Periodische Fiebersyndrome /Autoinflammation ELANE, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP12, NLRP3, NOD2, PLCG2, PSMB8, PSTPIP1, TNFRSF1A, AP1S3, CARD14, CECR1, FOXD3, HAX1, IL10, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRC4, NLRP1, NLRP7, RAB27A, RBCK1, RNF31, SH3BP2, SLC29A3, TMEM173, TNFRSF11A
Peripheres T-Zell-Lymphom DNMT3A, IDH2, RHOA, TET2
Peroxisomen-Biogenese-Störungen PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7
Perrault-Syndrom CLPP, HARS2, HSD17B4, LARS2
Polymikrogyrie nach telefonischer Rücksprache
Polyneuropathie ABCB7, ABCD1, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ATL1, BSCL2, C12orf65, CYP2U1, CYP7B1, DDHD1, DDHD2, ERLIN2, FA2H, GBA2, GCH1, GFAP, GJC2, GLB1, HSPD1, KIAA0196, KIF1A, KIF5A, L1CAM, MTPAP, NDUFV1, NIPA1, OPA1, OPA3, PLP1, PNPLA6, REEP1, RPIA, RTN2, SLC16A2, SLC33A1, SPAST, SPG11, SPG20, SPG21, SPG7, SPP1, SPR, TECPR2, TH, VAMP1, VPS37A, ZFYVE26, ZFYVE27
Polyposis APC, MUTYH
Polyzystische Lebererkrankungen (PCLD) GANAB, LRP5, PRKCSH, SEC63
Polyzystische Nierenerkrankungen (ADPKD/ARPKD) PKD1, PKD2, PKHD1, GANAB
Pontozerebelläre Hypoplasie nach telefonischer Rücksprache
Porphyrien nach telefonischer Rücksprache
Primäre ziliäre Dyskinesie (PCD) DNAH11, DNAH5, ARMC4, C21orf59, CBY1, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CHD1L, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAI1, DNAI2, DNAL1, DRC1, DYX1C1, GAS8, GMNC, HSD11B2, HYDIN, LRRC56, LRRC6, MCIDAS, NME8, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, SPEF2, ZMYND10
Progerie-Syndrome nach telefonischer Rücksprache
Progressive externe Ophthalmoplegie (PEO) ACADS, C10orf2, DNA2, MGME1, OPA1, POLG, POLG2, RRM2B, SLC25A4, SPG7, TK2, TYMP
Prostatakarzinom AR, BRCA1, BRCA2, CDH1, ELAC2, HOXB13, MSR1, CD82, CHEK2, MSMB, MXI1, RNASEL, ZFHX3
Pulmonale Hypertonie ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, KCNK3, SMAD4, SMAD9, TBX4
Pyruvat-Dehydrogenase-Mangel nach telefonischer Rücksprache
R
Rasopathien
nach telefonischer Rücksprache
Refsum-Syndrom PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH
Renale tubuläre Azidose ATP6V0A4, ATP6V1B1, CA2, SLC4A1, SLC4A4
Renale tubuläre Dysgenesie ACE, AGT, AGTR1, REN
Retinitis pigmentosa, autosomal-dominant PRPF31, PRPH2, RHO, TOPORS, ALPK1, BEST1, CA4, CAPN5, COL6A6, CRX, CTNNA1, FSCN2, GUCA1B, HK1, IMPDH1, ITM2B, KIF5A, KLHL7, MIR204, NR2E3, NRL, OR2W3, PRPF3, PRPF4, PRPF6, PRPF8, RDH12, ROM1, RP1, RP9, RPE65, SEMA4A, SF3B2, SNRNP200, SPP2, TEAD1, ZNF513
Retinitis pigmentosa, autosomal-rezessiv ABCA4, CRB1, EYS, NR2E3, PDE6B, RP1, TULP1, ABHD12, ACACB, ADGRA3, ADIPOR1, AGBL5, AHI1, ALMS1, ARHGEF16, ARL13B, ARL2BP, ARL6, ASRGL1, BBS1, BBS10, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C2orf71, C5orf42, C8orf37, CALHM3, CC2D2A, CCDC28B, CDH16, CEP290, CEP41, CEP68, CERKL, CLRN1, CNGA1, CNGB1, CRTAC1, CWC27, CYP4V2, DENND4A, DHDDS, DHX38, DNAJC17, DYNC1LI1, DYNC2H1, DYNC2LI1, DYNLL1, DYNLT1, DZANK1, EMC1, EML4, EVI5, EXOC8, FAM161A, FLVCR1, GNPTG, GNS, GRID2, HCN1, HGSNAT, IDH3A, IDH3B, IFT122, IFT140, IFT172, IFT43, IFT80, IMPG2, INPP5E, KIAA0753, KIAA1549, KIF7, KIZ, LAMA1, LCA5L, LIG3, LRAT, LZTFL1, MAK, MERTK, MFSD8, MKKS, MKS1, MPDZ, MPRIP, MTTP, MVK, NCKAP5L, NEK1, NEK2, NEK8, NEUROD1, NPHP1, NRL, NUDC, OAT, OTOGL, PANK2, PDE6A, PDE6B, PDE6D, PDE6G, PDZRN3, PLA2G5, PNPLA6, PRCD, PROM1, PRPH2, RAB11A, RBP3, RBP4, RCBTB1, RDH11, RDH12, RDH5, RERG, RGR, RHBDD2, RHO, RIPK3, RLBP1, RPE65, RPGRIP1L, SAG, SAMD11, SDCCAG8, SLC7A14, SPATA7, SYTL4, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM237, TMEM67, TNPO1, TRAF3IP1, TRNT1, TSPAN11, TTC21B, TTC8, TTPA, TUB, USH1C, USH2A, USP16, WDPCP, WDR19, WDR35, ZNF408, ZNF423, ZNF513
Retinitis pigmentosa, syndromal ABHD12, CC2D2A, CEP164, CEP19, COL9A1, ERCC6, EVC, EVC2, GNPTG, IFT140, INVS, IQCB1, KIF11, MFSD8, NPHP3, OAT, PANK2, PHYH, PLK4, POC1A, RB1, RDH11, TUBGCP6, WDR19, XPNPEP3
Retinitis pigmentosa, X-gekoppelt ARL13A, BCOR, CHM, OFD1, PGK1, PRPS1, RP2, RPGR
Retinoblastom RB1
S
Salzverlust-Syndrome
siehe Bartter-Syndrom
SANDD-Syndrom CACNA1D
Schizenzephalie nach telefonischer Rücksprache
Seckel-Syndrom nach telefonischer Rücksprache
Senior-Loken-Syndrom CEP290, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, WDR19
Sensenbrenner-Syndrom DPH1, DYNC2H1, IFT122, IFT43, WDR19, WDR35, C21orf2, CEP120, DYNC2LI1, EFR3A, EVC, EVC2, IFT140, IFT172, IFT80, KIAA0586, NEK1, SMO, TCTEX1D2, TTC21B, TULP4, WDR34, WDR60
Skelettdysplasie mit abnormer Knochendichte/Mineralisierung nach telefonischer Rücksprache
Spastische Paraplegie ATL1, CYP7B1, KIF5A, NIPA1, REEP1, SPAST, SPG11, SPG7, ZFYVE26, ABCB7, ABCD1, ALS2, ANG, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, BSCL2, C12orf65, CCT5, CYP27A1, CYP2U1, DDHD1, DDHD2, ERLIN2, FA2H, FIG4, FUS, GALC, GBA, GBA2, GCH1, GFAP, GJC2, GLB1, HEXA, HSPD1, KIAA0196, KIF1A, L1CAM, MTPAP, NDUFV1, OPA1, OPA3, PANK2, PLA2G6, PLP1, PNPLA6, RPIA, RTN2, SACS, SETX, SIL1, SLC16A2, SLC33A1, SOD1, SPG20, SPG21, SPP1, SPR, TARDBP, TECPR2, TH, VAMP1, VAPB, VPS37A, ZFYVE27
Spinale Muskelatrophie, distale AR, ATP7A, BSCL2, DCTN1, DNAJB2, DYNC1H1, HSPB1, HSPB3, HSPB8, IGHMBP2, PLEKHG5, REEP1, SETX, SMN1, UBA1, VAPB, VRK1
Spinozerebelläre Ataxie ABCB7, ADCK3, AFG3L2, ANO10, APTX, ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, BEAN1, C10orf2, CACNA1A, CYP27A1, DARS2, DNMT1, EXOSC3, FGF14, FLVCR1, FXN, GALC, IFRD1, ITPR1, KCNA1, KCNC3, KCND3, MRE11A, MTPAP, NOP56, PDYN, PEX10, PLA2G6, PLEKHG4, PMM2, PPP2R2B, PRKCG, RARS2, RNF170, SACS, SETX, SIL1, SPR, SPTBN2, SYNE1, TBP, TDP1, TGM6, TSEN2, TSEN34, TSEN54, TTBK2, TTPA, VRK1
Splenisches Marginalzonenlymphom ARID1A, KLF2, KMT2D, NOTCH2, TP53
Spondylometaphysäre und spondyloepiphysäre Dysplasie nach telefonischer Rücksprache
Stargardt-Erkrankung ABCA4, ELOVL4, IMPG1, PROM1
Stickler-Syndrom COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, FBN1, P3H2
T
Taubheit, autosomal-dominant
COCH, DFNA5, DIAPH1, MYH14, MYO7A, TECTA, ACTG1, CCDC50, CEACAM16, COL11A2, CRYM, DIABLO, ESPN, EYA4, GJB2, GJB3, GJB6, GRHL2, HOMER2, KCNQ4, MIR96, MYH9, MYO6, OSBPL2, P2RX2, POU4F3, PTPRQ, SIX1, SLC17A8, TBC1D24, TJP2, TMC1, TNC, WFS1
Taubheit, autosomal-rezessiv GJB2, MYO15A, MYO7A, SLC26A4, ADCY1, ATP2B2, BDP1, CABP2, CDH23, CIB2, CLDN14, CLIC5, CLPP, COL11A2, DCDC2, DFNB31, DFNB59, ELMOD3, EPS8, ESPN, ESRRB, FAM65B, GIPC3, GJB3, GJB6, GNAI2, GNAI3, GPSM2, GRXCR1, GRXCR2, HGF, ILDR1, KARS, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MRPS7, MSRB3, MYO3A, MYO6, OTOA, OTOF, OTOG, OTOGL, PCDH15, PNPT1, PTPRQ, RDX, SERPINB6, SLC26A5, STRC, SYNE4, TBC1D24, TECTA, TMC1, TMEM132E, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C
Taubheit, X-gekoppelt COL4A6, POU3F4, PRPS1, SMPX, TIMM8A
Thorakale Aortenaneurysmen ACTA2, COL11A1, COL12A1, FBN1, FBN2, FLNA, FLNB, MYH11, MYLK, PRKG1, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2
Thrombotisch-thrombozytopenische Purpura (TTP) siehe aHUS
Thrombotische Mikroangiopathie (TMA) siehe aHUS
Treacher-Collins-Syndrom POLR1C, POLR1D, TCOF1
Tuberöse Sklerose (TSC) TSC1, TSC2
Tubulopathien ABCC6, AGXT, APRT, ATP7B, CLCN5, CTNS, CUBN, DMP1, EHHADH, ENPP1, FAH, FGF23, GLA, GRHPR, HNF4A, HOGA1, HPRT1, LRP2, OCRL, PHEX, SLC13A2, SLC17A1, SLC17A2, SLC17A3, SLC20A1, SLC20A2, SLC22A12, SLC26A1, SLC26A6, SLC2A2, SLC2A9, SLC34A1, SLC34A2, SLC34A3, SLC3A1, SLC7A9, SLC9A3R1, XDH
U
Urolithiasis
ABCC6, ADCY10, CALCR, CYP24A1, CYP27B1, DMP1, FAM20C, FGF23, KL, MGP, PHEX, PTH, PTH1R, SPP1, TRPV5, TRPV6, VDR
Usher-Syndrom CDH23, CIB2, MYO7A, PCDH15, USH1C, USH1G, ABHD12, ADGRV1, ALMS1, ANKS4B, CACNA1D, CEP250, CIB1, CIB3, CIB4, CLRN1, COL9A1, DFNB31, DOCK4, FEM1B, GNB1L, HARS, HARS2, MAGI1, MAGI2, MAGI3, MPP1, MT-TH, MT-TL1, MT-TP, MT-TS2, MYO1C, NINL, PDZD7, SHROOM2, SLC9A3R1, SPAG5, SPTBN5, USH2A, USHBP1, VEZT
Usher-Syndrom Typ 1 CDH23, MYO7A, PCDH15, CIB2, USH1C, USH1G
Usher-Syndrom Typ 2 ADGRV1, USH2A,DFNB31
V
Vaskulopathie
ACVRL1, COL4A1, EFEMP2, ENG, FLNA, GDF2, NOTCH1, PKD1, SLC2A10, SMAD4, SMAD6
Von Hippel-Lindau-Syndrom VHL
W
Waardenburg-Syndrom
EDN3, EDNRB, MITF, PAX3, SMOC1, SNAI2, SOX10
Wachstumshormon-Mangel nach telefonischer Rücksprache
Walker-Warburg-Syndrom B3GALNT2, B4GAT1, COL4A1, FKRP, FKTN, GMPPB, ISPD, LARGE, POMGNT1, POMGNT2, POMK, POMT1, POMT2, TMEM5
Warburg-Micro-Syndrom nach telefonischer Rücksprache
X
X-chromosomale mentale Retardierung nach telefonischer Rücksprache
Xanthinurie
MOCOS, XDH
Xeroderma pigmentosum DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
Z
Zapfen-Stäbchen-Dystrophie/Makuladystrophie
ABCA4, BEST1, CNGA3, PDE6C, PROM1, PRPH2, RPGR, ACBD5, ADAM9, AIPL1, ARMS2, C1QTNF5, C21orf2, C3, C8orf37, CABP4, CACNA1F, CACNA2D4, CDH3, CDHR1, CERKL, CFH, CNGB3, CNNM4, CRX, DRAM2, ELOVL4, ERCC6, FBLN5, FSCN2, GUCA1A, GUCA1B, GUCY2D, HMCN1, HTRA1, ITM2B, KCNV2, LLGL2, MERTK, MFSD8, MT-ATP6, MT-TL1, PCYT1A, PITPNM3, PLK4, POC1B, PPP1R21, PRDM13, RAB11A, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RP1L1, RPGRIP1, SEMA4A, TEAD1, TIMP3, TLR3, TLR4, TTLL5, TUBGCP4, TUBGCP6, UNC119, WASF3
Zellweger-Syndrom siehe Peroxisomen-Biogenese-Störungen
Zystennieren PKD1, PKD2, PKHD1,ANKLE2, ANKS6, AQP2, ATMIN, BICC1, C9orf16, CLIC5, CYS1, DCHS2, DNAJB9, DZIP1, DZIP1L, FZD4, GANAB, GLIS3, HNF1B, INVS, KIF12, LRP5, MUC1, NDN, NPHP3, PDE1A, PDE1C, PDE3A, PDE4C, PIK3CA, PLXNB1, PRDM9, RAB7A, RAB7B, RET, STK11, TRIM21, TRPC5, UMOD
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