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GenetischePanel-Diagnostik

ErkrankungKinderkrankheiten, genetisch bedingt; Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein panel mit 16 Leitlinien-kuratierten und insgesamt beinahe 1193 Genen zur umfassenden Untersuchung von praktisch allen nicht ganz seltenen, genetisch bedingten pädiatrischen Erkrankungen.

ID
KP5858
Anzahl Gene
1175 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
25,5 kb (Core-/Basis-Gene)
2.929,9 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ACADM1266AR
ACADVL1968AR
BCKDHA1338AR
BCKDHB1179AR
BTD1572AR
CPT1A2322AR
CPT21977AD und/oder AR und/oder Dig
DBT1449AR
DLD1530AR
FAH1260AR
GALT1140AR und/oder Dig
GCDH1317AR
HADHA2292AR
HADHB1425AR
IVD1182AR
PAH1359AR
SLC25A20906AR
AAAS1641AR
ABCB113966AR
ABCB72259XLR
ABCC64512AD und/oder AR und/oder Dig und/oder Mult
ABCC94650AD und/oder Dig
ABCD12238XLR
ABHD51050AR
ACAD91866AR
ACADS1239AR
ACAN7593AD und/oder AR
ACAT11284AR
ACOX11869AR
ACP5978AR
ACTA21134AD und/oder Mult
ACTB1128AD
ACTG11128AD
ACTL6B1295
  • Keine OMIM-Gs verknüpft
AD und/oder AR
ADA1092AR
ADAR2796AD und/oder AR
ADGRG12064AR
ADGRG63858
  • Keine OMIM-Gs verknüpft
AR
ADNP3309AD
ADSL1455AR
AFF23936XLR
AFF43492AD
AGA1041AR
AGK1269AR
AGL4599AR
AGPS1977AR
AGXT1179AR
AHDC14812AD
AHI13591AR
AIPL11155AD und/oder AR
AIRE1638AD und/oder AR
AK2675AR
AKR1D1858AR
AKT11443AD und/oder SMu und/oder Sus
ALAD993AR und/oder Dig
ALDH18A12388AD und/oder AR
ALDH1A31539AR
ALDH3A21458AR
ALDH4A11512AR
ALDH5A11608AR
ALDH7A11620AR
ALDOA1095AR
ALDOB1095AR
ALG11395AR
ALG121467AR
ALG31173AR
ALG61524AR
ALG81404AR
ALMS112504AR
ALPL1575AD und/oder AR
ALS24974AR
ALX1981AR
ALX31032AR
ALX41236AD und/oder AR
AMER13408XL
AMPD22478AR
AMT1212AR
ANAPC15835AR
ANKH1479AD
ANKRD117992AD
ANO52742AD und/oder AR
ANTXR11695AD und/oder AR
AP1S2474XLR
AP4E13414AD und/oder AR
APOPT1797
  • Keine OMIM-Gs verknüpft
AR
APTX1029AR
AR2763XLR und/oder SMu
ARG1969AR
ARID1A6858AD und/oder SMu und/oder Sus
ARID1B6750AD und/oder SMu
ARL6561AR und/oder Dig
ARMC43403
  • Keine OMIM-Gs verknüpft
AR
ARMC93275
  • Keine OMIM-Gs verknüpft
AR
ARSA1530AR
ARSB1602AR
ARX1689XL
ASAH11188AR
ASL1395AR
ASPA942AR
ASPM10434AR
ASS11239AR
ASXL14626AD und/oder SMu
ATAD3A1761AD und/oder AR
ATIC1779AR
ATM9171AD und/oder AR und/oder SMu und/oder Sus
ATP13A23543AR
ATP1A33042AD
ATP6V1B11542AR
ATP7A4503XLR
ATP8B13756AR
ATRX7479XL und/oder SMu
AUH1020AR
AUTS23780AD
B3GALT6990AR
B4GALT7984AR
BBS11782AR und/oder Dig
BBS102172AR
BBS122133AR
BBS22166AR und/oder Dig
BBS41560AR
BBS51026AR
BBS72148AR und/oder Dig
BBS92664AR
BCAP31741XLR
BCL11A2322AD
BCOR5166XLD und/oder SMu
BCS1L1260AR
BFSP21248AD
BGN1107XL
BHLHA9708AR
BICD22568AD
BIN11782AR
BLM4254AR und/oder Sus
BMP41227AD
BMPER2058AR
BMPR1B1509AD und/oder AR
BNC23297AD
BRAF2301AD und/oder SMu und/oder Sus
BRCA15592AD und/oder AR und/oder SMu und/oder Sus
BRCA210257AD und/oder AR und/oder SMu und/oder Sus
BRIP13750AD und/oder Sus
BRPF13777
  • Keine OMIM-Gs verknüpft
AD
BRWD35409XLR
BSND963AR
BUB1B3153AD und/oder AR und/oder Sus
C11orf70935
  • Keine OMIM-Gs verknüpft
AR
C21orf21546
  • Keine OMIM-Gs verknüpft
AR
C2orf713869
  • Keine OMIM-Gs verknüpft
AR
C5orf429864
  • Keine OMIM-Gs verknüpft
AR
C8orf37624AR
CA2783AR
CA8873AR
CACNA1C6417AD
CACNA1E6813AD
CAD6774
  • Keine OMIM-Gs verknüpft
AR
CASK2766XL
CBL2721AD und/oder SMu
CC2D1A2856AR
CC2D2A4863AR
CCBE11221AR
CCDC103729AR
CCDC1142196
  • Keine OMIM-Gs verknüpft
AR
CCDC115645
  • Keine OMIM-Gs verknüpft
AR
CCDC392826AR
CCDC403429AR
CCDC651455AR
CCND2870AD
CCNO1053AR
CCNQ685XLD
CDC451819
  • Keine OMIM-Gs verknüpft
AR
CDC61683AR
CDH12649AD und/oder SMu und/oder Sus
CDH2310065AR und/oder Dig
CDH32490AR
CDK134711
  • Keine OMIM-Gs verknüpft
AD
CDK81395AD
CDKL53093XLD
CDKN1C951AD und/oder Sus
CDON3795AD
CDT11641AR
CENPJ4017AR
CEP1043059
  • Keine OMIM-Gs verknüpft
AR
CEP1524965AR und/oder Dig
CEP2907440AR und/oder Dig
CEP411122AR und/oder Dig
CEP571476AR
CEP832106AR
CHAMP12439AD
CHD25487AD
CHD45739AD
CHD78994AD
CHM1962XLD
CHRDL11377XLR
CHRNA41884AD
CHRNG1554AR
CHST141131AR
CHST31440AR
CHSY12409AR
CHUK2238AR
CIB2564AR
CISD2408AR
CKAP2L2238AR
CLCN72418AD und/oder AR
CLDN19675AR
CLN31317AR
CLN51077AR
CLN6936AR
CLN8861AR
CLPB2034AR
CNOT32262AD
CNTNAP23996AR
COASY1695AR
COG12943AR
COG42295AD und/oder AR
COG72313AR
COG81839AR
COL10A12043AD
COL11A15421AD und/oder AR
COL11A25211AD und/oder AR
COL18A14560AR
COL1A14395AD
COL2A14464AD
COL4A15010AD und/oder Mult
COL4A25139AD und/oder Mult
COL4A35013AD und/oder AR und/oder Dig
COL4A45073AD und/oder AR und/oder Dig
COL6A13087AD und/oder AR
COL6A39534AD und/oder AR
COL9A12766AD und/oder AR
COL9A22070AD und/oder AR
COL9A32055AD und/oder AR
COLEC11744AR
COMP2274AD
COQ21266AD und/oder AR
COQ8A1944AR
COQ9957AR
COX101332AR und/oder Mi
COX151167AR
COX6B1261AR und/oder Mi
COX7B243XLD
CPS14503AR
CRB14221AD und/oder AR
CRB23858AR
CREBBP7329AD und/oder SMu und/oder Meth
CRPPA1356AR
CRX900AD
CRYAA522AD und/oder AR
CRYBA1648AD
CRYBA4591AD
CRYBB1759AD und/oder AR
CRYBB2618AD
CRYBB3636AD und/oder AR
CRYGC525AD
CRYGD525AD
CSF1R2919AD
CSNK2A11545
  • Keine OMIM-Gs verknüpft
AD
CSPP13666AR
CSTB297AR
CTC13654AR
CTCF1200AD
CTDP12529AR
CTNNB12346AD und/oder SMu und/oder Sus
CTNS1203AR
CTSA1497AR und/oder Mult
CTSD1239AR
CTSK990AR
CUL4B2742XLR
CUL75097AR
CWC271883
  • Keine OMIM-Gs verknüpft
AR
CYC1978AR
CYP1B11632AR und/oder Dig
CYP2U11635AR
DAG12688AR
DARS21938AR
DCHS19897AD und/oder AR
DCX1083XL
DDB21284AR
DDC1443AR
DDHD12640AR
DDHD22136AR
DDOST1371AR
DDR22568AD und/oder AR
DDX112913AR
DDX3X1986XL und/oder SMu
DEAF11698AR
DEGS11018
  • Keine OMIM-Gs verknüpft
AR
DEPDC54812AD
DHCR241551AR
DHCR71428AR
DHFR564AR
DHODH1188AR
DIS3L22658AR und/oder Sus
DKC11545XLR
DLAT1944AR
DLG32454XLR
DLL31857AR
DLL42058AD
DMD11058XLR
DMP11542AR
DMPK1920AD
DNAAF31827AR
DNAAF41131AD und/oder AR
DNAH913461AR
DNMT3A2739AD und/oder SMu
DNMT3B2562AR
DOCK86300AR
DOLK1617AR
DPAGT11227AR
DPM1783AR
DSPP3906AD
DSTYK2790AD und/oder AR
DVL12013AD
DVL32261
  • Keine OMIM-Gs verknüpft
AD
DYM2010AR
DYNC1H113941AD
DYNC2H112945AR und/oder Dig
DYRK1A2292AD
EBF31993
  • Keine OMIM-Gs verknüpft
AD
EBP693XL
ECEL12328AR
EDA1176XLD und/oder XLR und/oder Dig
EDAR1347AD und/oder AR
EDNRA1284AD und/oder Mult
EDNRB1329AD und/oder AR und/oder Sus
EFNB11041XLD
EFTUD22919AD
EGR21431AD und/oder AR
EHMT13897AD
EIF2AK33351AR
EIF4A31236AR
ELAC22481AR und/oder Ass
ELN2175AD
ELOVL4945AD und/oder AR
ENPP12778AD und/oder AR und/oder Mult
EOGT1584AR
EP3007245AD und/oder SMu und/oder Meth
EPG57740AR
ERCC1972AR
ERCC22283AR
ERCC32349AR
ERCC42751AR
ERCC64482AD und/oder AR und/oder SMu und/oder Sus
ERCC6L22106AR
ERCC81191AR und/oder Sus
ERF1647AD
ESCO21806AR
ETFA1002AR
ETFB768AR
ETFDH1854AR
ETHE1765AR
EVC2979AD und/oder AR
EVC23927AD und/oder AR
EXOSC3828AR
EXT12241AD und/oder Ass
EXT22157AD und/oder AR
EYA11779AD
EZH22256AD und/oder SMu
FAM111A1836AD
FAM126A1566AR
FAM161A2151AR
FAM20A1212AR
FAM20C1755AR
FANCA4368AR und/oder Sus
FANCB2580XLR und/oder Sus
FANCC1677AR und/oder Sus
FANCD24416AR und/oder Sus
FANCE1611AR und/oder Sus
FANCF1125AR und/oder Sus
FANCG1869AR und/oder Sus
FANCI3987AR und/oder Sus
FAR11548AR
FARS21356AR
FAT414946AR
FBN18616AD und/oder Mult
FBN28739AD
FBP11017AR
FBXL41866AR
FBXO112784AD
FGD12886XLR
FGF10627AD
FGF12848
  • Keine OMIM-Gs verknüpft
AD
FGF3720AR
FGFR12469AD und/oder Dig
FGFR22466AD und/oder Sus
FGFR32421AD und/oder AR und/oder SMu
FH1533AD und/oder AR und/oder SMu und/oder Sus
FHL1843XL
FKBP14636AR
FKRP1488AR
FKTN1386AR
FLAD12021
  • Keine OMIM-Gs verknüpft
AR
FLNA7920XL
FLNB7809AD und/oder AR
FLT44092AD
FLVCR11668AR
FLVCR21581AR
FMR11899XL
FOLR1774AR
FOXC11662AD und/oder Dig und/oder SMu und/oder Sus
FOXC21506AD
FOXE11122AD und/oder AR
FOXE3960AD und/oder AR
FOXF11140AD
FOXG11470AD
FOXN11947AR
FOXP12034AD
FOXP31296XLR
FOXRED11461AR
FRAS112039AR
FREM16540AD und/oder AR
FREM29510AR
FRMD72145XL
FTCD1626AR
FTL528AD und/oder AR
FTSJ1990XLR
FUCA11401AR
FYCO14437AR
FZD62121AR
GAA2859AR
GABRB31422AD
GALC2058AR
GALE1047AR
GALK11179AR
GALNS1569AR
GAMT711AR
GAS81448
  • Keine OMIM-Gs verknüpft
AR
GATA21443AD und/oder SMu
GATA41329AD
GATA61788AD
GATAD2B1782AD
GATM1272AR
GBA1611AD und/oder AR und/oder Sus
GBA22784AR
GCH1753AD und/oder AR
GDF51506AD und/oder AR
GDF61368AD und/oder AR
GDI11344XLD
GFAP1299AD
GFM12256AR
GHR1917AD und/oder AR
GJA11149AD und/oder AR
GJA31308AD
GJA81302AD
GJB3813AD und/oder Dig
GJC21320AD und/oder AR
GK1575XLR
GLB12034AR
GLDC3063AR
GLE12097AR
GLI24761AD
GLI34743AD
GLIS32328AR
GLMN1785AD
GLUD11677AD
GLUL1122AR
GM2A582AR
GMPPA1263AR
GMPPB1164AR
GNAI11073
  • Keine OMIM-Gs verknüpft
AD
GNAI31065AD
GNAO11065AD
GNAS1185AD und/oder SMu
GNB11032
  • Keine OMIM-Gs verknüpft
AD und/oder SMu
GNPAT2043AR
GNPTAB3771AR
GNPTG918AR
GNS1659AR
GORAB1185AR
GPC31743XLR und/oder SMu und/oder Sus
GPC41671XLR und/oder Sus
GPSM22055AR
GRHL31671AD
GRIA32685XLR
GRIK22727AR
GRIN12817AD und/oder AR
GRIN2A4395AD
GRIN2B4455AD
GRM62634AR
GTF2H5216AR
GTPBP31575AR
GUCY2C3222AD und/oder AR
GUSB1956AR
H3F3A411AD
HACE12730AD und/oder Sus
HADH945AR
HAX1840AR
HCCS807XLD
HCFC16108XLR
HCN12673AD
HDAC43255AD
HDAC81134XLD
HECW24768
  • Keine OMIM-Gs verknüpft
AD
HEXA1590AR
HEXB1671AR
HGSNAT1908AR
HIBCH1161AR
HINT1381AR
HIVEP27341AD
HLCS2181AR
HMGCL978AR
HMGCS21401AR
HNF1B1674AD und/oder Sus
HNF4A1359AD und/oder Dig und/oder Sus
HNRNPK1442
  • Keine OMIM-Gs verknüpft
AD
HNRNPR1921
  • Keine OMIM-Gs verknüpft
AD
HNRNPU2478AD
HOXA11008AR
HOXA131167AD
HOXC13993AR
HOXD131032AD
HPGD801AR
HPRT1657XLR
HPS12103AR
HPSE21605AR
HR3570AD und/oder AR
HRAS570AD und/oder SMu und/oder Sus
HSD17B10759XLD
HSD17B42211AR
HSD3B7591AR
HSF41389AD
HSPD11722AD und/oder AR
HSPG213176AR
HUWE113125XL
HYAL11308AR
HYDIN2853AR
HYLS1900AR
IDS1653XLR
IDUA1962AR
IFIH13078AD
IFITM5399AD
IFT1223879AR
IFT1404389AR
IFT1725250AR
IFT43642AR
IFT802334AR
IGF1462AR
IGF1R4104AD und/oder AR
IGF2543AD
IGHMBP22982AR
IGSF14026XLR
IHH1236AD und/oder AR
IKBKG1260XL
IL11RA1269AR
IL1RAPL12091XLR
INPP5E1945
  • Keine OMIM-Gs verknüpft
AR
INPPL13777AR
IQSEC24467XLD
IRF61404AD
ITGA33156AR
ITGA73426AR und/oder Dig
ITPR18088AD und/oder AR
JAG13657AD und/oder AR
JAGN1552AR
JAK33375AR und/oder SMu
KANSL13318AD
KARS1955
  • Keine OMIM-Gs verknüpft
AR
KAT6A6015AD
KAT6B6222AD
KBTBD131377AD
KCNA21500AD
KCNB12577AD
KCNC11758AD
KCNJ101140AR und/oder Dig
KCNJ111173AD und/oder AR und/oder Ass
KCNQ12031AD und/oder AR und/oder Dig und/oder Sus
KCNQ22619AD
KCNQ32619AD
KCNT13708AD
KCTD1774AD
KCTD7870AR
KDM5C4683XLR
KDM6A4206XLD
KIAA05865005
  • Keine OMIM-Gs verknüpft
AR
KIF113171AD
KIF1A5073AD und/oder AR
KIF221794AD
KIF74032AR und/oder Dig
KIT2931AD und/oder SMu
KLF11089AD
KLHL401866AR
KMT2A11919AD und/oder Gen Fusion
KMT2D16614AD und/oder SMu und/oder Sus
KMT2E5577AD
KMT5B1182AD
KRAS567AD und/oder SMu und/oder Sus
KRIT12211AD
L1CAM3774XLR und/oder Dig
L2HGDH1392AR
LAMA19228AR und/oder Dig
LAMA29369AR
LAMC34728AR
LAMP21233XLD
LARGE12271AR
LARP71770AR
LBR1848AD und/oder AR
LDB3852AD
LEMD32736AD
LFNG1140AR
LHX31209AR
LHX41173AD
LIG42736AR und/oder SMu und/oder Sus
LMBRD11623AR und/oder Dig
LMNA1995AD und/oder AR und/oder Dig
LMX1B1188AD
LRP213968AR
LRP45718AD und/oder AR
LRP54848AD und/oder AR und/oder Dig und/oder Mult
LRPPRC4185AR
LRRC61401AR
LTBP25466AR
LTBP33912AD und/oder AR
LYST11406AR
MAF1212AD
MAFB972AR
MAGEL23750AD
MAN1B12100AR
MAN2B13036AR
MANBA2640AR
MAP2K11182AD
MAP2K21203AD
MAP3K14539AD
MAPRE2855AD
MASP12187AR
MATN31461AD und/oder AR
MC2R894AR
MCCC12178AR
MCCC21692AR
MCEE531AR
MCOLN11743AR
MCPH12508AR
MECP21461XL
MED126534XLR
MEF2C1422AD und/oder Mult
MEGF103423AR
MEGF88337AR
MESP21194AR
MFRP1740AR
MFSD2A1632AR
MFSD81557AR
MGAT21344AR
MGP312AR
MICU11437AR
MID12004XLR
MITF1260AD und/oder AR und/oder Sus
MKKS1713AR und/oder Dig
MKS11680AR
MLC11134AR
MLYCD1482AR
MMAA1257AR
MMAB753AR
MMACHC849AR
MMADHC891AR
MMP131416AD und/oder AR
MMP211717
  • Keine OMIM-Gs verknüpft
AR
MNX11206AD
MOCS11158AR
MOCS2567AR
MPDU1744AR
MPI1272AR
MPLKIP540AR
MPV17531AR
MSL31930
  • Keine OMIM-Gs verknüpft
XL
MSX1912AD
MSX2804AD
MTHFR1971AD und/oder AR und/oder Ass
MTM11812XLR
MTO12079AR
MTOR7650AD
MTR3798AR und/oder Dig
MTRR2097AR
MUT2253AR
MYCN1395AD
MYH35823AD und/oder AR
MYH65820AD und/oder Sus
MYH85814AD
MYH95883AD
MYO5A5568AR
MYO5B5547AR
MYO7A6648AD und/oder AR und/oder Dig
MYT1L3555AD
NAA10663XL
NACC11589
  • Keine OMIM-Gs verknüpft
AD
NAGA1236AR
NAGLU2232AD und/oder AR
NAGS1605AR
NALCN5217AD und/oder AR
NANS1111
  • Keine OMIM-Gs verknüpft
AR
NBAS7116AR
NBN2265AR und/oder Ass
NDE11008AR
NDP402XLR
NDUFA1213XLR
NDUFS12184AR
NDUFS4528AR
NDUFS7642AR
NDUFS8633AR
NDUFV11368AR
NEB25683AR
NECTIN41533AR
NEK13777AD und/oder AR und/oder Dig und/oder Sus
NEU11248AR
NF18457AD und/oder SMu und/oder Sus
NFIX1533AD
NFU1765AR
NGLY11911AR
NHS4425XL
NIPBL8415AD
NKX2-11206AD
NKX2-5975AD
NKX3-21002AR
NMNAT1840AR
NODAL1044AD
NOG699AD
NOTCH27416AD und/oder SMu
NPC13837AR
NPC2456AR
NPHP12202AR
NPHP33993AR
NPHP44281AR
NPHS13726AR und/oder Dig
NPHS21152AR und/oder Dig
NPR23144AD und/oder AR
NR2F11272AD
NR2F21245AD
NR5A11386AD und/oder AR
NRAS570AD und/oder SMu und/oder Sus
NSD18091AD und/oder SMu
NSDHL1122XL
NT5C3A894AR
NTRK12373AD und/oder AR
NUBPL672AR
NUP1072778AR
NYX1446XLR
OBSL15691AR
OCRL2706XLR
ODAPH531AR
OFD13039XL
OPHN12409XLR
ORC12586AR
ORC41311AR
ORC6759AR
OTC1065XLR
OTOGL7035AR
OTULIN1066
  • Keine OMIM-Gs verknüpft
AR
OTX2870AD
OXCT11563AR
P3H12211AR
PAFAH1B11233AD
PAK31635XLR
PALB23561AD und/oder Sus
PAPSS21860AR
PARN1920AD und/oder AR
PAX21254AD
PAX31440AD und/oder AR und/oder SMu und/oder Gen Fusion
PAX61269AD
PAX81353AD
PAX91026AD
PC3537AR
PCBD1315AR
PCCA2187AR
PCCB1620AR
PCDH193447XL
PCGF21035AD
PCNT10011AR
PCYT1A1104AR
PDCD10639AD
PDE4D2430AD und/oder Mult
PDE6G264AR
PDGFRB3321AD und/oder Gen Fusion
PDHA11173XLD
PDHX1506AR
PDSS21200AR
PEPD1482AR
PEX13852AR
PEX101041AR
PEX121080AR
PEX131212AR
PEX141134AR
PEX161011AR
PEX19900AR
PEX2918AR
PEX26918AR
PEX31122AR
PEX51920AR
PEX62943AD und/oder AR
PEX7972AR
PGAP2765AR
PGAP3963AR
PGK11254XLR
PGM11743AR
PGM31713AR
PHF61098XLR
PHF83075XLR
PHGDH1602AR
PHIP5466AD
PHOX2B945AD
PIEZO28259AD und/oder AR
PIGA1455XLR
PIGB1699
  • Keine OMIM-Gs verknüpft
AR
PIGL759AR
PIGO3270AR
PIGT1737AD und/oder AR
PIGV1482AR
PIK3CA3207AD und/oder SMu und/oder Sus
PIK3R12175AD und/oder AR
PIK3R22187AD
PITX2816AD und/oder Dig und/oder Sus
PITX3909AD und/oder AR
PKD1L18550AR
PKHD112225AR
PLA2G62421AR
PLCE16909AR
PLK42913AR
PLOD12184AR
PLOD22277AR
PLP1834XLR
PMM2741AR
PMS22589AR und/oder Sus
PNKP1566AR
PNPT12352AR
POC1A1080AR
POC1B1437AR
POGZ4233AD
POLA14389XLR
POLD13324AD
POLG3720AD und/oder AR
POLR1C1041AR
POLR1D402AD und/oder AR
POLR2A5913AD
POLR3A4173AR
POLR3B3402AR
POMGNT11983AR
POMGNT21743AR
POMT12244AR
POMT22253AR
PORCN1386XLD
POU1F1876AD und/oder AR
POU3F31503AD
PPA21017AR
PPM1D1818AD
PPP1CB350AD
PPP2R1A1770AD
PPP2R5D1356AD
PPT1921AR
PQBP1798XLR
PRDM121109
  • Keine OMIM-Gs verknüpft
AR
PRKAR1A1146AD und/oder Sus
PRKD12739AD
PRMT71929AR
PROP1681AR
PRPS1957XLR
PRRT21023AD
PRSS122628AR
PRSS561812AR
PSAP1575AR
PSMB8831AR und/oder Dig
PSPH678AR
PTCH14344AD und/oder SMu
PTCHD12667XLR
PTDSS11422AD
PTEN1212AD und/oder SMu und/oder Sus
PTF1A987AR
PTH1R1782AD und/oder AR
PTHLH534AD und/oder Mult
PTPN111782AD und/oder SMu
PTS438AR
PUF601551AD
PURA969AD
PYCR1960AR
PYGL2544AR
QDPR735AR
QRICH12340
  • Keine OMIM-Gs verknüpft
AD
RAB18621AR
RAB23714AR
RAB39B642XLR
RAB3GAP12946AR
RAB3GAP24182AR
RAD211896AD und/oder AR und/oder SMu
RAF11947AD
RAI15721AD
RAPSN1239AR
RARB1347AD und/oder AR
RARS21737AR
RASA13144AD
RAX1041AR
RECQL43628AR
RELN10383AD und/oder AR
RERE4701AD und/oder Ass
RET3345AD und/oder Dig und/oder Sus
RETREG11494AR
RFX62787AR
RIPK42355AR
RIT1660AD
RMRP300AR
RNASEH2A900AR
RNASEH2B939AR
RNASEH2C495AR
RNASET2771AR
ROBO34161AR
ROGDI864AR
ROR22832AD und/oder AR
RPE651602AR
RPGRIP13861AR und/oder Ass
RPGRIP1L3948AR
RPL11537AD
RPS19438AD
RPS6KA32223XLD
RRAS2384AD
RRM2B1272AD und/oder AR
RSPH1930AR
RSPH31691
  • Keine OMIM-Gs verknüpft
AR
RSPO4705AR
RTEL13732AD und/oder AR
RTN4IP11200
  • Keine OMIM-Gs verknüpft
AR
RTTN6681AR
RUNX21566AD und/oder Mult
RYR115117AD und/oder AR
SALL13975AD
SALL43162AD
SAMD94770AD und/oder AR und/oder SMu
SAMHD11881AD und/oder AR und/oder Ass
SATB22202AD
SBDS753AR
SC5D900AR
SCARF22613AR
SCN11A5376AD
SCN1A6030AD und/oder Dig
SCN1B657AD und/oder AR
SCN2A6018AD und/oder Dig
SCN4A5511AD und/oder AR und/oder Ass
SCN8A5943AD
SCO1906AR und/oder Mi
SCO2801AD und/oder AR
SDCCAG82142AR
SDHA1995AD und/oder AR und/oder Sus
SDHAF1348AR
SEC23B2304AD und/oder AR
SEPSECS1506AR
SETBP14791AD und/oder SMu
SETD54329AD
SF3B41275AD
SGSH1509AR
SH3PXD2B2736AR
SHH1389AD und/oder Dig
SHOC21749AD
SHOX879PD und/oder PR
SIL11386AR
SIM12301AD und/oder AR
SIX1855AD
SIX3999AD und/oder AR
SIX52220AD
SKI2187AD
SKIV2L3741AR
SLC10A71485
  • Keine OMIM-Gs verknüpft
AR
SLC12A63453AR
SLC13A51707AR
SLC16A21620XL
SLC17A51488AR
SLC19A31491AR
SLC22A51674AR und/oder Mult
SLC25A15906AR
SLC25A241650
  • Keine OMIM-Gs verknüpft
AD
SLC25A261100
  • Keine OMIM-Gs verknüpft
AR
SLC25A38915AR
SLC26A22220AR
SLC27A41932AR
SLC2A11479AD und/oder AR
SLC2A101626AR
SLC2A21575AD und/oder AR
SLC33A11650AD und/oder AR
SLC35A21182XLD
SLC35C11056AR
SLC35D11068AR
SLC39A131095AR
SLC39A81645
  • Keine OMIM-Gs verknüpft
AR
SLC46A11297AR
SLC4A12736AD und/oder AR
SLC4A112676AR
SLC4A43108AR
SLC52A21338AR
SLC52A31410AR
SLC5A51932AR
SLC6A11800AD
SLC6A31863AR
SLC6A52394AD und/oder AR
SLC6A81908XLR
SLC9A62010XLD
SLX45505AR und/oder Sus
SMAD31278AD
SMAD41659AD und/oder SMu und/oder Sus
SMARCA24773AD
SMARCA45040AD und/oder SMu
SMARCAL12865AR
SMARCB11158AD und/oder SMu und/oder Sus
SMC1A3702XLD
SMC33654AD und/oder SMu
SMCHD16018AD
SMO2364AD
SMOC11308AR
SMPD11896AR
SNRPB696AD
SNX142841AR
SON7556
  • Keine OMIM-Gs verknüpft
AD
SOS14002AD
SOX171245AD
SOX2954AD
SOX31341XL
SOX91530AD
SPAG12781AR
SPATA52951
  • Keine OMIM-Gs verknüpft
AR
SPEG9804AR
SPG117332AR
SPR786AD und/oder AR
SPRED11335AD und/oder Sus
SPTBN27173AD und/oder AR
SPTLC21689AD
SRCAP9693AD
SRD5A3957AR
SRY615XL/YL
STAG13777AD
STAG23807XL und/oder SMu
STAMBP1275AR
STAR858AR
STRA62004AR
STS1752XLR
STXBP11812AD
SUCLG11041AR
SUMF11125AR
SURF1903AR
SUZ122220AD und/oder Ass
SYNE126250AD und/oder AR
SYNGAP14032AD
SYP942XLR
TAB22082AD
TAF15682XLR
TANGO21252
  • Keine OMIM-Gs verknüpft
AR
TAOK13025
  • Keine OMIM-Gs verknüpft
AD
TAT1365AR
TAZ879XLR
TBC1D232100AR
TBC1D241680AD und/oder AR
TBCD7465
  • Keine OMIM-Gs verknüpft
AR
TBCE1584AR
TBCK2682AR
TBL1XR11545AD
TBX11488AD
TBX151491AR
TBX201344AD
TBX221563XL
TBX32172AD
TBX41638AD und/oder Ass
TBX51557AD
TBXAS11602AD und/oder AR
TCF122121AD
TCF205906
  • Keine OMIM-Gs verknüpft
AD
TCF42016AD und/oder Mult
TCN21284AR
TCOF14467AD
TCTN31824AR
TEK3375AD und/oder Dig
TERT3399AD und/oder AR und/oder SMu und/oder Sus
TFAP2A1296AD
TFAP2B1383AD
TGDS1053AR
TGFB11173AD und/oder AR
TGFB21245AD
TGFB31239AD
TGFBR11512AD
TGFBR21704AD
TGIF1819AD
TH1587AR
THAP1642AD
THOC61026AR
THRA1233AR
TIMM8A294XLR
TINF21356AD
TK2705AR
TMCO1720AR
TMEM126B724
  • Keine OMIM-Gs verknüpft
AR
TMEM165975AR
TMEM2371227AR
TMEM51355AR
TMEM672988AR
TMEM70324AR
TMPRSS62436AR
TOP3A3006AR
TP632043AD und/oder Sus
TPP11692AR
TRAF72013AD
TRAPPC2423XLR
TRAPPC93741AR und/oder Dig
TREX1945AD und/oder AR und/oder Ass
TRIM372895AR und/oder Sus
TRIP115940AR
TRIP125979AD
TRPM14929AR
TRPS13885AD
TRPV42616AD
TSC13495AD und/oder Sus
TSC25424AD und/oder Sus
TSEN541581AR
TSHB417AR
TSHR2295AD und/oder AR
TSPAN7750XLR
TTC19822AR
TTC374695AR
TTC7A2577AR
TTC81518AR
TUBA1A1356AD
TUBA81350AR
TUBB1335AD
TUBB2A1338AD
TUBB2B1338AD
TUBB4A1335AD
TUBGCP65460AR
TUSC31047AR
TWIST1609AD
TWIST2483AD und/oder AR
TXNL4A429AR
TYR1590AD und/oder AR und/oder Dig
TYRP11614AR
UBA51255
  • Keine OMIM-Gs verknüpft
AR
UBE2A459XLR
UBE3A2559AD und/oder Mult
UBE3B3207AR
UBR15250AR
UFC1510
  • Keine OMIM-Gs verknüpft
AR
UFM1405
  • Keine OMIM-Gs verknüpft
AR
UMPS1443AR
UNC809777AR
UPF3B1452XLR
UROC12211AR
UROS798AR
USB1744AR
UVSSA2130AR
VDR1284AD und/oder AR
VIPAS391482AR
VLDLR2622AR
VPS13B12069AR
VPS33B1854AR
VPS532499AR
VSX21086AR
WAC1944AD
WDPCP2241AR
WDR113675AD und/oder Dig
WDR194029AR
WDR262000
  • Keine OMIM-Gs verknüpft
AD
WDR32912
  • Keine OMIM-Gs verknüpft
n.k.
WDR353546AR
WDR451086XLD
WDR624572AR
WNT11113AD und/oder Sus
WNT10B1170AR und/oder Sus
WNT31068AR und/oder Sus
WNT5A1143AD und/oder Sus
WNT7A1050AR
WRAP531647AR
WT11569AD und/oder Dig und/oder SMu und/oder Sus
XPA822AR
XPC2823AR
XRCC41005AR
XYLT12880AR
YY11245AD
ZBTB181596AD
ZBTB202226AD
ZC4H2675XLR
ZDHHC91095XL
ZEB23645AD
ZFP571611AD
ZFYVE267620AR
ZIC11344AD
ZIC21599AD
ZIC31404XLR
ZMPSTE241428AR
ZNF7112286XL

Infos zur Erkrankung

Synonyme
  • Alias: Pediatric diseases, genetic
  • Alias: Pädiatrische Erkrankungen, erblich
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Ass
  • AD und/oder AR und/oder Dig
  • AD und/oder AR und/oder Dig und/oder Mult
  • AD und/oder AR und/oder Dig und/oder Sus
  • AD und/oder AR und/oder Mult
  • AD und/oder AR und/oder SMu
  • AD und/oder AR und/oder SMu und/oder Gen Fusion
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder AR und/oder Sus
  • AD und/oder Ass
  • AD und/oder Dig
  • AD und/oder Dig und/oder SMu und/oder Sus
  • AD und/oder Dig und/oder Sus
  • AD und/oder Gen Fusion
  • AD und/oder Mult
  • AD und/oder SMu
  • AD und/oder SMu und/oder Meth
  • AD und/oder SMu und/oder Sus
  • AD und/oder Sus
  • AR
  • AR und/oder Ass
  • AR und/oder Dig
  • AR und/oder Mi
  • AR und/oder Mult
  • AR und/oder SMu
  • AR und/oder SMu und/oder Sus
  • AR und/oder Sus
  • PD und/oder PR
  • XL
  • XL und/oder SMu
  • XL/YL
  • XLD
  • XLD und/oder SMu
  • XLD und/oder XLR und/oder Dig
  • XLR
  • XLR und/oder Dig
  • XLR und/oder SMu
  • XLR und/oder SMu und/oder Sus
  • XLR und/oder Sus
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Z31.5

Bioinformatik und klinische Interpretation

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