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Klinische FragestellungPränatal auffällige Gliedmaßen

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Pränatal auffällige Gliedmaßen mit zusammen genommen 149 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
PP0002
Anzahl Gene
137 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
35,7 kb (Core-/Core-canditate-Gene)
349,8 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • Chorionzotten (CVS)
  • Fruchtwasser (nach AC)
  • Nabelschnurblut (NB)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
COL2A14464NM_001844.5AD
FGFR32421NM_000142.5AD
NIPBL8415NM_133433.4AD
SALL13975NM_002968.3AD
SALL43162NM_020436.5AD
SLC26A22220NM_000112.4AR
SMC1A3702NM_006306.4XL
SMC33654NM_005445.4AD
TBX51557NM_000192.3AD
TP632043NM_003722.5AD
AFF43492NM_014423.4AD
ARHGAP314335NM_020754.4AD
ARL6561NM_177976.3AR
ASXL14626NM_015338.6AD
BBS11782NM_024649.5AR, digenisch
BBS102172NM_024685.4AR
BBS122133NM_152618.3AR
BBS22166NM_031885.5AR
BBS41560NM_033028.5AR
BBS51026NM_152384.3AR
BBS72148NM_176824.3AR
BBS92664NM_198428.3AR
BHLHA9708NM_001164405.2AR
BMP21191NM_001200.4AD
BMP41227NM_001202.6AD
BMPR1B1509NM_001203.3AD, AR
BRCA210257NM_000059.4AR
BRIP13750NM_032043.3AR
CCND2870NM_001759.4AD
CCNQ685NM_001130997.3XL
CENPF9403NM_016343.4AR
CHSY12409NM_014918.5AR
CKAP2L2238NM_152515.5AR
DDR22568NM_006182.4AR
DDX591860NM_001031725.6AR
DLL42058NM_019074.4AD
DLX5870NM_005221.6AR
DOCK66144NM_020812.4AR
DVL12013NM_004421.3AD
DVL32261NM_004423.4AD
EBP693NM_006579.3XL
EFTUD22919NM_004247.4AD
EOGT1584NM_001278689.2AR
ERCC42751NM_005236.3AR
ESCO21806NM_001017420.3AR
FANCA4368NM_000135.4AR
FANCB2580NM_001018113.3XLR
FANCC1677NM_000136.3AR
FANCE1611NM_021922.3AR
FANCF1125NM_022725.4AR
FANCG1869NM_004629.2AR
FANCI3987NM_001113378.2AR
FANCL1128NM_018062.4AR
FGD12886NM_004463.3XLR
FGF10627NM_004465.2AD
FGF16355NM_003868.3XLR
FGFR12469NM_023110.3AD
FGFR22466NM_000141.5AD
FIG42724NM_014845.6AR
FLNA7920NM_001456.4XL
FRAS112039NM_025074.7AR
FREM29510NM_207361.6AR
FZD21699NM_001466.4AD
GDF51506NM_000557.5AD, AR
GJA11149NM_000165.5AD, AR
GLI12937NM_001160045.2AR
GLI24761NM_005270.5AD
GLI34743NM_000168.6AD
GPC31743NM_004484.4XLR
GRIP13231NM_021150.4AR
HDAC81134NM_018486.3XL
HOXA131167NM_000522.5AD
HOXD131032NM_000523.4AD
IHH1236NM_002181.4AD, AR
KCNH12889NM_172362.3AD
KYNU924NM_001032998.2AR
LBR1848NM_002296.4AR
LMBR11473NM_022458.4AD, AR
LMX1B1188NM_002316.4AD
LRP45718NM_002334.4AR
LZTFL1900NM_020347.4AR
MEGF88337NM_001410.3AR
MKKS1713NM_018848.3AR
MKS11680NM_017777.4AR
MYCN1395NM_005378.6AD
NOG699NM_005450.6AD
NOTCH17668NM_017617.5AD
NSDHL1122NM_015922.3XL
PALB23561NM_024675.4AR
PAX31440NM_181457.4AR
PCNT10011NM_006031.6AR
PDE3A3569NM_000921.5AD
PDE4D2430NM_001104631.2AD
PIK3CA3207NM_006218.4AD
PIK3R22187NM_005027.4AD
PITX1945NM_002653.5AD
PORCN1386NM_203475.3XL
PRMT71929NM_001184824.4AR
PTHLH534NM_198965.2AD
RAB23714NM_183227.3AR
RAD211896NM_006265.3AD
RBM8A525NM_005105.5AR
RBPJ1503NM_005349.4AD
RECQL43628NM_004260.4AR
RNU4ATAC130NR_023343.1AR
ROR22832NM_004560.4AD, AR
RPL11537NM_000975.5AD
RPL5894NM_000969.5AD
RPS10498NM_001014.5AD
RPS26348NM_001029.5AD
RPS7585NM_001011.4AD
SF3B41275NM_005850.5AD
SFRP41047NM_003014.4AR
SHOX879NM_000451.3, NM_006883.2PD/PR
SLX45505NM_032444.4AR
SMAD61491NM_005585.5AD
SMO2364NM_005631.5AD
SMOC11308NM_001034852.3AR
TBX32172NM_005996.4AD
TBX41638NM_018488.3AD
TFAP2B1383NM_003221.4AD
TGDS1053NM_014305.4AR
TMEM672988NM_153704.6AR
TRPS13885NM_014112.5AD
TRPV42616NM_021625.5AD
TTC81518NM_198309.3AR
TWIST1609NM_000474.4AD
TXNDC151088NM_024715.4AR
UBE2T594NM_014176.4AR
USP9X7713NM_001039590.3XL
WDPCP2241NM_015910.7AR
WDR603361AR
WNT10B1170NM_003394.4AR
WNT5A1143NM_003392.7AD
WNT7A1050NM_004625.4AR
ZIC31404NM_003413.4XLR
ZSWIM63648NM_020928.2AD

Infos zur Erkrankung

Klinischer Kommentar

Gruppe heterogener Erkrankungen: Angeborene Anomalien der Gliedmaßen können durch genetische Syndrome verursacht werden oder isolierte sporadische Ereignisse sein; Früherkennung solcher Anomalien ist wichtig, um Familien im optimalen Zeitfenster beraten zu können

 

Synonyme
  • Alias: Prenatally unusual limbs
  • Allelic: Epileptic encephalopathy, early infantile, 85, with/-out midline brain defects (SMC1A)
  • Allelic: Hay-Wells syndrome (TP63)
  • Allelic: Hypophosphatasia, adult (ALPL)
  • Allelic: Hypophosphatasia, childhood (ALPL)
  • Allelic: Mungan syndrome (RAD21)
  • Allelic: Odontochondrodysplasia 1 (TRIP11)
  • Allelic: Orofacial cleft 8 (TP63)
  • Allelic: Rapp-Hodgkin syndrome (TP63)
  • Allelic: Warburg-Cinotti syndrome (DDR2)
  • ADULT syndrome (TP63)
  • Aarskog-Scott syndrome (FGD1)
  • Acampomelic campomelic dysplasia (SOX9)
  • Acheiropody (LMBR1)
  • Achondrogenesis Ib (SLC26A2)
  • Achondrogenesis, type IA (TRIP11)
  • Achondrogenesis, type II or hypochondrogenesis (COL2A1)
  • Acrocapitofemoral dysplasia (IHH)
  • Acrodysostosis 2, with/-out hormone resistance (PDE4D)
  • Acrofacial dysostosis 1, Nager type (SF3B4)
  • Acromelic frontonasal dysostosis (ZSWIM6)
  • Acromesomelic dysplasia, Demirhan type (BMPR1B)
  • Adams-Oliver syndrome 1 (ARHGAP31)
  • Adams-Oliver syndrome 2 (DOCK6)
  • Adams-Oliver syndrome 3 (RBPJ)
  • Adams-Oliver syndrome 4 (EOGT)
  • Adams-Oliver syndrome 5 (NOTCH1)
  • Adams-Oliver syndrome 6 (DLL4)
  • Amelia, posterior, with pelvic + pulmonary hypoplasia syndrome (TBX4)
  • Apert syndrome (FGFR2)
  • Atelosteogenesis, type II (SLC26A2)
  • Baller-Gerold syndrome (RECQL4)
  • Bardet-Biedl syndrome 1, 2, 3, 4, 5, 7, 9, 10, 12 (BBS1-2, ARL6, BBS4-5, BBS7, BBS9, BBS10, BBS12)
  • Bardet-Biedl syndrome 6, 8, 13, 15, 17 (MKKS, TTC8, MKS1, WDPCP, LZTFL1)
  • Bent bone dysplasia syndrome (FGFR2)
  • Bohring-Opitz syndrome (ASXL1)
  • Brachydactyly, type A1 (IHH)
  • Brachydactyly, type A1, A2, C (GDF5)
  • Brachydactyly, type A1, D + type A2 (BMPR1B)
  • Brachydactyly, type A2 (BMP2)
  • Brachydactyly, type B1 (ROR2)
  • Brachydactyly, type B2 (NOG)
  • Brachydactyly, type D, type E (HOXD13)
  • Brachydactyly, type E2 (PTHLH)
  • Brachydactyly-syndactyly syndrome (HOXD13)
  • CHILD syndrome (NSDHL)
  • CHOPS syndrome (AFF4)
  • Campomelic dysplasia (SOX9)
  • Campomelic dysplasia with autosomal sex reversal (SOX9)
  • Camptosynpolydactyly, complex (BHLHA9)
  • Carpenter syndrome (RAB23)
  • Carpenter syndrome 2 (MEGF8)
  • Catel-Manzke syndrome (TGDS)
  • Cenani-Lenz syndactyly syndrome (LRP4)
  • Char syndrome (TFAP2B)
  • Chondrodysplasia punctata, XLD (EBP)
  • Chondrodysplasia punctata, XLR (ARSE)
  • Chondrodysplasia, Grebe type (GDF5)
  • Clubfoot, congenital, with/-out deficiency of long bones and/or mirror-image polydactyly (PITX1)
  • Congenital heart defects, hamartomas of tongue + polysyndactyly (WDPCP)
  • Cornelia de Lange syndrome 1 (NIPBL)
  • Cornelia de Lange syndrome 2 (SMC1A)
  • Cornelia de Lange syndrome 3 (SMC3)
  • Cornelia de Lange syndrome 4 (RAD21)
  • Cornelia de Lange syndrome 5 (HDAC8)
  • Craniofacial-deafness-hand syndrome (PAX3)
  • Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
  • Craniometaphyseal dysplasia, AR (GJA1)
  • Crouzon syndrome (FGFR2)
  • Crouzon syndrome with acanthosis nigricans (FGFR3)
  • Culler-Jones syndrome (GLI2)
  • Curry-Jones syndrome, somatic mosaic (SMO)
  • De la Chapelle dysplasia (SLC26A2)
  • Diamond-Blackfan anemia 1, 3, 4, 5, 6, 7, 8 (RPS19, RPS24, RPS17, RPL35A, RPL5, RPL11, RPS7)
  • Diamond-Blackfan anemia 9, 10 (RPS10, RPS26)
  • Diastrophic dysplasia (SLC26A2)
  • Diastrophic dysplasia, broad bone-platyspondylic variant (SLC26A2)
  • Du Pan syndrome (GDF5)
  • Duane-radial ray syndrome (SALL4)
  • Ectrodactyly, ectodermal dysplasia + cleft lip/palate syndrome 3 (TP63)
  • Ellis-van Creveld syndrome (EVC, EVC2)
  • Epiphyseal dysplasia, multiple, 4 (SLC26A2)
  • Fanconi anemia, complementation group A-C, D2, E-G, I, L (FANCA-C, -D2, -E-G, -I, -L)
  • Fanconi anemia, complementation group D1, N, J, P, Q, T (BRCA2, PALB2, BRIP2, SLX4, ERCC4, UBE2T)
  • Feingold syndrome 1 (MYCN)
  • Filippi syndrome (CKAP2L)
  • Focal dermal hypoplasia (PORCN)
  • Fraser syndrome 1 (FRAS1)
  • Fraser syndrome 2, 3 (FREM2, GRIP1)
  • Frontometaphyseal dysplasia 1 (FLNA)
  • Fuhrmann syndrome (WNT7A)
  • Greenberg skeletal dysplasia (LBR)
  • Greig cephalopolysyndactyly syndrome (GLI3)
  • Guttmacher syndrome (HOXA13)
  • Hand-foot-uterus syndrome (HOXA13)
  • Hartsfield syndrome (FGFR1)
  • Holt-Oram syndrome (TBX4)
  • Hypertension and brachydactyly syndrome (PDE3A)
  • Hypochondroplasia (FGFR3)
  • Hypophosphatasia, infantile (ALPL)
  • Hypoplastic or aplastic tibia with polydactyly (LMBR1)
  • IVIC syndrome (SALL4)
  • Ischiocoxopodopatellar syndrome with/-out pulmonary arterial hypertension (TBX4)
  • Jackson-Weiss syndrome (FGFR1, FGFR2)
  • Juberg-Hayward syndrome (ESCO2)
  • LADD syndrome (FGF10, FGFR2, FGFR3)
  • LADD syndrome (FGFR3)
  • Langer mesomelic dysplasia (SHOX)
  • Laurin-Sandrow syndrome (LMBR1)
  • Leri-Weill dyschondrosteosis (SHOX)
  • Liebenberg syndrome (PITX1)
  • Limb-mammary syndrome (TP63)
  • Lowry-Wood syndrome (RNU4ATAC)
  • MEND syndrome (EBP)
  • Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
  • McKusick-Kaufman syndrome (MKKS)
  • Meckel syndrome 1, 2, 3, 4, 5, 6, 7 (MKS1, TMEM216, TMEM67, CEP290, RPGRIP1L, CC2D2A, NPHP3)
  • Meckel syndrome 8, 9, 10, 11, 12, 13 (TCTN2, B9D1, B9D2, TMEM231, KIF14, TMEM107)
  • Meckel syndrome [panelapp] (TXNDC15)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (PIK3R2)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (CCND2)
  • Melnick-Needles syndrome (FLNA)
  • Mental retardation, XL 99, syndromic, female-restricted (USP9X)
  • Mental retardation, XL syndromic 16 (FGD1)
  • Metacarpal 4-5 fusion (FGF16)
  • Metatropic dysplasia (TRPV4)
  • Microcephalic osteodysplastic primordial dwarfism, type I (RNU4ATAC)
  • Microcephalic osteodysplastic primordial dwarfism, type II (PCNT)
  • Microphthalmia with limb anomalies (SMOC1)
  • Microphthalmia, syndromic 6 (BMP4)
  • Muenke syndrome (FGFR3)
  • Multiple synostoses syndrome 1 (NOG)
  • Nail-patella syndrome (LMX1B)
  • Oculodentodigital dysplasia, AD + AR (GJA1)
  • Odontohypophosphatasia (ALPL)
  • Omodysplasia 2 (FZD2)
  • Orofacial cleft 11 (BMP4)
  • Orofaciodigital syndrome V (DDX59)
  • Osteoglophonic dysplasia (FGFR1)
  • Otopalatodigital syndrome, type I + II (FLNA)
  • Pallister-Hall syndrome (GLI3)
  • Pallister-Hall-like syndrome (SMO)
  • Pfeiffer syndrome (FGFR1, FGFR2)
  • Polydactyly, postaxial, types A1 + B; preaxial, type IV (GLI3)
  • Polydactyly, preaxial I + postaxial, type A8 (GLI1)
  • Polydactyly, preaxial type II (LMBR1)
  • Pyle disease (SFRP4)
  • RAPADILINO syndrome RECQL4)
  • RHYNS syndrome (TMEM67)
  • Radioulnar synostosis, nonsyndromic (SMAD6)
  • Roberts-SC phocomelia syndrome (ESCO2)
  • Robinow syndrome, AD 1 (WNT5A)
  • Robinow syndrome, AD 2 (DVL1)
  • Robinow syndrome, AD 3 (DVL3)
  • Robinow syndrome, AR (ROR2)
  • Robinow-Sorauf syndrome (TWIST1)
  • Roifman syndrome (RNU4ATAC)
  • Rothmund-Thomson syndrome, type 2 (RECQL4)
  • SADDAN (FGFR3)
  • SED, Maroteaux type (TRPV4)
  • STAR syndrome (CCNQ)
  • Saethre-Chotzen syndrome (FGFR2)
  • Saethre-Chotzen syndrome with/-out eyelid anomalies (TWIST1)
  • Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
  • Scaphocephaly, maxillary retrusion + mental retardation (FGFR2)
  • Short stature, brachydactyly, intellectual developmental disability + seizures (PRMT7)
  • Short stature, facial dysmorphism + skeletal anomalies with/-out cardiac anomalies 1 (BMP2)
  • Short stature, idiopathic familial (SHOX)
  • Short-rib thoracic dysplasia 8 with/-out polydactyly (DYNC2I1 syn. WDR60)
  • Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
  • Split-hand/foot malformation 1 (DLX5)
  • Split-hand/foot malformation 4 (TP63)
  • Split-hand/foot malformation 6 (WNT10B)
  • Spondylocostal dysostosis 1, AR (DLL3)
  • Spondyloepiphyseal dysplasia, congenita (COL2A1)
  • Spondylometaepiphyseal dysplasia, short limb-hand type (DDR2)
  • Spondylometaphyseal dysplasia, Kozlowski type (TRPV4)
  • Spondyloperipheral dysplasia (COL2A1)
  • Stickler syndrome, type I (COL2A1)
  • Stromme syndrome (CENPF)
  • Sweeney-Cox syndrome (TWIST1)
  • Symphalangism, proximal, 1A (NOG)
  • Symphalangism, proximal, 1B (GDF5)
  • Syndactyly, mesoaxial synostotic, phalangeal reduction (BHLHA9)
  • Syndactyly, type III (GJA1)
  • Syndactyly, type IV (LMBR1)
  • Syndactyly, type V (HOXD13)
  • Synpolydactyly 1 (HOXD13)
  • Tarsal-carpal coalition syndrome (NOG)
  • Temple-Baraitser syndrome (KCNH1)
  • Temtamy preaxial brachydactyly syndrome (CHSY1)
  • Thanatophoric dysplasia, type I + II (FGFR3)
  • Thrombocytopenia-absent radius syndrome (RBM8A)
  • Townes-Brocks branchiootorenal-like syndrome (SALL1)
  • Townes-Brocks syndrome 1 (SALL1)
  • Trichorhinophalangeal syndrome, type I, III (TRPS1)
  • Triphalangeal thumb, type I (LMBR1)
  • Triphalangeal thumb-polysyndactyly syndrome (LMBR1)
  • Ulna + fibula, absence of, with severe limb deficiency (WNT7A)
  • Ulnar-mammary syndrome (TBX3)
  • VACTERL association, XL (ZIC3)
  • Vertebral, cardiac, renal, and limb defects syndrome 2 (KYNU)
  • Waardenburg syndrome, type 1 + 3 (PAX3)
  • Weyers acrofacial dysostosis (EVC2, [EVC])
  • Yunis-Varon syndrome (FIG4)
  • [McCune-]Albright syndrome (GNAS)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • PD/PR
  • XL
  • XLR
  • digenisch
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
M89.2-

Bioinformatik und klinische Interpretation

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