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)
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
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
COL2A1 | 4464 | NM_001844.5 | AD | |
FGFR3 | 2421 | NM_000142.5 | AD | |
NIPBL | 8415 | NM_133433.4 | AD | |
SALL1 | 3975 | NM_002968.3 | AD | |
SALL4 | 3162 | NM_020436.5 | AD | |
SLC26A2 | 2220 | NM_000112.4 | AR | |
SMC1A | 3702 | NM_006306.4 | XL | |
SMC3 | 3654 | NM_005445.4 | AD | |
TBX5 | 1557 | NM_000192.3 | AD | |
TP63 | 2043 | NM_003722.5 | AD | |
AFF4 | 3492 | NM_014423.4 | AD | |
ARHGAP31 | 4335 | NM_020754.4 | AD | |
ARL6 | 561 | NM_177976.3 | AR | |
ASXL1 | 4626 | NM_015338.6 | AD | |
BBS1 | 1782 | NM_024649.5 | AR, digenisch | |
BBS10 | 2172 | NM_024685.4 | AR | |
BBS12 | 2133 | NM_152618.3 | AR | |
BBS2 | 2166 | NM_031885.5 | AR | |
BBS4 | 1560 | NM_033028.5 | AR | |
BBS5 | 1026 | NM_152384.3 | AR | |
BBS7 | 2148 | NM_176824.3 | AR | |
BBS9 | 2664 | NM_198428.3 | AR | |
BHLHA9 | 708 | NM_001164405.2 | AR | |
BMP2 | 1191 | NM_001200.4 | AD | |
BMP4 | 1227 | NM_001202.6 | AD | |
BMPR1B | 1509 | NM_001203.3 | AD, AR | |
BRCA2 | 10257 | NM_000059.4 | AR | |
BRIP1 | 3750 | NM_032043.3 | AR | |
CCND2 | 870 | NM_001759.4 | AD | |
CCNQ | 685 | NM_001130997.3 | XL | |
CENPF | 9403 | NM_016343.4 | AR | |
CHSY1 | 2409 | NM_014918.5 | AR | |
CKAP2L | 2238 | NM_152515.5 | AR | |
DDR2 | 2568 | NM_006182.4 | AR | |
DDX59 | 1860 | NM_001031725.6 | AR | |
DLL4 | 2058 | NM_019074.4 | AD | |
DLX5 | 870 | NM_005221.6 | AR | |
DOCK6 | 6144 | NM_020812.4 | AR | |
DVL1 | 2013 | NM_004421.3 | AD | |
DVL3 | 2261 | NM_004423.4 | AD | |
EBP | 693 | NM_006579.3 | XL | |
EFTUD2 | 2919 | NM_004247.4 | AD | |
EOGT | 1584 | NM_001278689.2 | AR | |
ERCC4 | 2751 | NM_005236.3 | AR | |
ESCO2 | 1806 | NM_001017420.3 | AR | |
FANCA | 4368 | NM_000135.4 | AR | |
FANCB | 2580 | NM_001018113.3 | XLR | |
FANCC | 1677 | NM_000136.3 | AR | |
FANCE | 1611 | NM_021922.3 | AR | |
FANCF | 1125 | NM_022725.4 | AR | |
FANCG | 1869 | NM_004629.2 | AR | |
FANCI | 3987 | NM_001113378.2 | AR | |
FANCL | 1128 | NM_018062.4 | AR | |
FGD1 | 2886 | NM_004463.3 | XLR | |
FGF10 | 627 | NM_004465.2 | AD | |
FGF16 | 355 | NM_003868.3 | XLR | |
FGFR1 | 2469 | NM_023110.3 | AD | |
FGFR2 | 2466 | NM_000141.5 | AD | |
FIG4 | 2724 | NM_014845.6 | AR | |
FLNA | 7920 | NM_001456.4 | XL | |
FRAS1 | 12039 | NM_025074.7 | AR | |
FREM2 | 9510 | NM_207361.6 | AR | |
FZD2 | 1699 | NM_001466.4 | AD | |
GDF5 | 1506 | NM_000557.5 | AD, AR | |
GJA1 | 1149 | NM_000165.5 | AD, AR | |
GLI1 | 2937 | NM_001160045.2 | AR | |
GLI2 | 4761 | NM_005270.5 | AD | |
GLI3 | 4743 | NM_000168.6 | AD | |
GPC3 | 1743 | NM_004484.4 | XLR | |
GRIP1 | 3231 | NM_021150.4 | AR | |
HDAC8 | 1134 | NM_018486.3 | XL | |
HOXA13 | 1167 | NM_000522.5 | AD | |
HOXD13 | 1032 | NM_000523.4 | AD | |
IHH | 1236 | NM_002181.4 | AD, AR | |
KCNH1 | 2889 | NM_172362.3 | AD | |
KYNU | 924 | NM_001032998.2 | AR | |
LBR | 1848 | NM_002296.4 | AR | |
LMBR1 | 1473 | NM_022458.4 | AD, AR | |
LMX1B | 1188 | NM_002316.4 | AD | |
LRP4 | 5718 | NM_002334.4 | AR | |
LZTFL1 | 900 | NM_020347.4 | AR | |
MEGF8 | 8337 | NM_001410.3 | AR | |
MKKS | 1713 | NM_018848.3 | AR | |
MKS1 | 1680 | NM_017777.4 | AR | |
MYCN | 1395 | NM_005378.6 | AD | |
NOG | 699 | NM_005450.6 | AD | |
NOTCH1 | 7668 | NM_017617.5 | AD | |
NSDHL | 1122 | NM_015922.3 | XL | |
PALB2 | 3561 | NM_024675.4 | AR | |
PAX3 | 1440 | NM_181457.4 | AR | |
PCNT | 10011 | NM_006031.6 | AR | |
PDE3A | 3569 | NM_000921.5 | AD | |
PDE4D | 2430 | NM_001104631.2 | AD | |
PIK3CA | 3207 | NM_006218.4 | AD | |
PIK3R2 | 2187 | NM_005027.4 | AD | |
PITX1 | 945 | NM_002653.5 | AD | |
PORCN | 1386 | NM_203475.3 | XL | |
PRMT7 | 1929 | NM_001184824.4 | AR | |
PTHLH | 534 | NM_198965.2 | AD | |
RAB23 | 714 | NM_183227.3 | AR | |
RAD21 | 1896 | NM_006265.3 | AD | |
RBM8A | 525 | NM_005105.5 | AR | |
RBPJ | 1503 | NM_005349.4 | AD | |
RECQL4 | 3628 | NM_004260.4 | AR | |
RNU4ATAC | 130 | NR_023343.1 | AR | |
ROR2 | 2832 | NM_004560.4 | AD, AR | |
RPL11 | 537 | NM_000975.5 | AD | |
RPL5 | 894 | NM_000969.5 | AD | |
RPS10 | 498 | NM_001014.5 | AD | |
RPS26 | 348 | NM_001029.5 | AD | |
RPS7 | 585 | NM_001011.4 | AD | |
SF3B4 | 1275 | NM_005850.5 | AD | |
SFRP4 | 1047 | NM_003014.4 | AR | |
SHOX | 879 | NM_000451.3, NM_006883.2 | PD/PR | |
SLX4 | 5505 | NM_032444.4 | AR | |
SMAD6 | 1491 | NM_005585.5 | AD | |
SMO | 2364 | NM_005631.5 | AD | |
SMOC1 | 1308 | NM_001034852.3 | AR | |
TBX3 | 2172 | NM_005996.4 | AD | |
TBX4 | 1638 | NM_018488.3 | AD | |
TFAP2B | 1383 | NM_003221.4 | AD | |
TGDS | 1053 | NM_014305.4 | AR | |
TMEM67 | 2988 | NM_153704.6 | AR | |
TRPS1 | 3885 | NM_014112.5 | AD | |
TRPV4 | 2616 | NM_021625.5 | AD | |
TTC8 | 1518 | NM_198309.3 | AR | |
TWIST1 | 609 | NM_000474.4 | AD | |
TXNDC15 | 1088 | NM_024715.4 | AR | |
UBE2T | 594 | NM_014176.4 | AR | |
USP9X | 7713 | NM_001039590.3 | XL | |
WDPCP | 2241 | NM_015910.7 | AR | |
WDR60 | 3361 | AR | ||
WNT10B | 1170 | NM_003394.4 | AR | |
WNT5A | 1143 | NM_003392.7 | AD | |
WNT7A | 1050 | NM_004625.4 | AR | |
ZIC3 | 1404 | NM_003413.4 | XLR | |
ZSWIM6 | 3648 | NM_020928.2 | AD |
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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