ErkrankungPränatal auffällige Gliedmaßen
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Pränatal auffällige Gliedmaßen mit 7 bzw. zusammen genommen 144 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
PP0002
Anzahl Gene
137
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
35,7 kb (Core-/Basis-Gene)
349,8 kb (Erweitertes Panel)
349,8 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- Chorionzotten (CVS)
- Fruchtwasser (nach AC)
- Nabelschnurblut (NB)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
COL2A1 | 4464 | AD | |
FGFR3 | 2421 | AD und/oder AR und/oder SMu | |
NIPBL | 8415 | AD und/oder Impr | |
SALL1 | 3975 | AD | |
SALL4 | 3162 | AD | |
SLC26A2 | 2220 | AR | |
SMC1A | 3702 | XLD und/oder Impr | |
SMC3 | 3654 | AD und/oder SMu und/oder Impr | |
TBX5 | 1557 | AD | |
TP63 | 2043 | AD und/oder Sus | |
AFF4 | 3492 | AD | |
ARHGAP31 | 4335 | AD | |
ARL6 | 561 | AR und/oder Dig | |
ASXL1 | 4626 | AD und/oder SMu | |
BBS1 | 1782 | AR und/oder Dig | |
BBS10 | 2172 | AR | |
BBS12 | 2133 | AR | |
BBS2 | 2166 | AR und/oder Dig | |
BBS4 | 1560 | AR | |
BBS5 | 1026 | AR | |
BBS7 | 2148 | AR und/oder Dig | |
BBS9 | 2664 | AR | |
BHLHA9 | 708 | AR | |
BMP2 | 1191 | AD und/oder AR | |
BMP4 | 1227 | AD | |
BMPR1B | 1509 | AD und/oder AR | |
BRCA2 | 10257 | AD und/oder AR und/oder SMu und/oder Sus | |
BRIP1 | 3750 | AD und/oder Sus | |
CCND2 | 870 | AD | |
CCNQ | 685 | XLD | |
CENPF | 9403 | AR | |
CHSY1 | 2409 | AR | |
CKAP2L | 2238 | AR | |
DDR2 | 2568 | AD und/oder AR | |
DDX59 | 1860 | AR | |
DLL4 | 2058 | AD | |
DLX5 | 870 | AR | |
DOCK6 | 6144 | AR | |
DVL1 | 2013 | AD | |
DVL3 | 2261 | AD | |
EBP | 693 | XL | |
EFTUD2 | 2919 | AD | |
EOGT | 1584 | AR | |
ERCC4 | 2751 | AR | |
ESCO2 | 1806 | AR | |
FANCA | 4368 | AR und/oder Sus | |
FANCB | 2580 | XLR und/oder Sus | |
FANCC | 1677 | AR und/oder Sus | |
FANCE | 1611 | AR und/oder Sus | |
FANCF | 1125 | AR und/oder Sus | |
FANCG | 1869 | AR und/oder Sus | |
FANCI | 3987 | AR und/oder Sus | |
FANCL | 1128 | AR und/oder Sus | |
FGD1 | 2886 | XLR | |
FGF10 | 627 | AD | |
FGF16 | 355 | XLR | |
FGFR1 | 2469 | AD und/oder Dig | |
FGFR2 | 2466 | AD und/oder Sus | |
FIG4 | 2724 | AD und/oder AR | |
FLNA | 7920 | XL | |
FRAS1 | 12039 | AR | |
FREM2 | 9510 | AR | |
FZD2 | 1699 | AD | |
GDF5 | 1506 | AD und/oder AR | |
GJA1 | 1149 | AD und/oder AR | |
GLI1 | 2937 | AD und/oder AR | |
GLI2 | 4761 | AD | |
GLI3 | 4743 | AD | |
GPC3 | 1743 | XLR und/oder SMu und/oder Sus | |
GRIP1 | 3231 | AR | |
HDAC8 | 1134 | XLD | |
HOXA13 | 1167 | AD | |
HOXD13 | 1032 | AD | |
IHH | 1236 | AD und/oder AR | |
KCNH1 | 2889 | AD | |
KYNU | 924 | AR | |
LBR | 1848 | AD und/oder AR | |
LMBR1 | 1473 | AD und/oder AR | |
LMX1B | 1188 | AD | |
LRP4 | 5718 | AD und/oder AR | |
LZTFL1 | 900 | AR | |
MEGF8 | 8337 | AR | |
MKKS | 1713 | AR und/oder Dig | |
MKS1 | 1680 | AR | |
MYCN | 1395 | AD | |
NOG | 699 | AD | |
NOTCH1 | 7668 | AD und/oder SMu | |
NSDHL | 1122 | XL | |
PALB2 | 3561 | AD und/oder Sus | |
PAX3 | 1440 | AD und/oder AR und/oder SMu und/oder Gen Fusion | |
PCNT | 10011 | AR | |
PDE3A | 3569 | AD | |
PDE4D | 2430 | AD und/oder Mult | |
PIK3CA | 3207 | AD und/oder SMu und/oder Sus | |
PIK3R2 | 2187 | AD | |
PITX1 | 945 | AD | |
PORCN | 1386 | XLD | |
PRMT7 | 1929 | AR | |
PTHLH | 534 | AD und/oder Mult | |
RAB23 | 714 | AR | |
RAD21 | 1896 | AD und/oder AR und/oder SMu und/oder Impr | |
RBM8A | 525 | AR | |
RBPJ | 1503 | AD | |
RECQL4 | 3628 | AR | |
RNU4ATAC | 130 | AR | |
ROR2 | 2832 | AD und/oder AR | |
RPL11 | 537 | AD | |
RPL5 | 894 | AD | |
RPS10 | 498 | AD | |
RPS26 | 348 | AD | |
RPS7 | 585 | AD | |
SF3B4 | 1275 | AD | |
SFRP4 | 1047 | AR | |
SHOX | 879 | PD und/oder PR | |
SLX4 | 5505 | AR und/oder Sus | |
SMAD6 | 1491 | AD | |
SMO | 2364 | AD | |
SMOC1 | 1308 | AR | |
TBX3 | 2172 | AD | |
TBX4 | 1638 | AD und/oder Ass | |
TFAP2B | 1383 | AD | |
TGDS | 1053 | AR | |
TMEM67 | 2988 | AR | |
TRPS1 | 3885 | AD | |
TRPV4 | 2616 | AD | |
TTC8 | 1518 | AR | |
TWIST1 | 609 | AD | |
TXNDC15 | 1088 | AR | |
UBE2T | 594 | AR | |
USP9X | 7713 | XLD und/oder XLR | |
WDPCP | 2241 | AR | |
WDR60 | 3361 |
| AR |
WNT10B | 1170 | AR und/oder Sus | |
WNT5A | 1143 | AD und/oder Sus | |
WNT7A | 1050 | AR | |
ZIC3 | 1404 | XLR | |
ZSWIM6 | 3648 | 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
- AD und/oder AR
- 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 Impr
- AD und/oder AR und/oder SMu und/oder Sus
- AD und/oder Ass
- AD und/oder Dig
- AD und/oder Impr
- AD und/oder Mult
- AD und/oder SMu
- AD und/oder SMu und/oder Impr
- AD und/oder SMu und/oder Sus
- AD und/oder Sus
- AR
- AR und/oder Dig
- AR und/oder Sus
- PD und/oder PR
- XL
- XLD
- XLD und/oder Impr
- XLD und/oder XLR
- XLR
- XLR und/oder SMu und/oder Sus
- XLR und/oder Sus
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
M89.2-
Bioinformatik und klinische Interpretation
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