©istock.com/Andrea Obzerova
Unsere KompetenzInterdisziplinäre Diagnostik
Know how bei der Analyse von Erbmaterial.
Zum Wohle von Patientinnen und Patienten.

Klinische FragestellungLippen-Kiefer-Gaumen-[Gesichts-]Spalten, Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein kuratiertes panel mit 7 "core candidate"-Genen sowie insgesamt mit 195 kuratierten Genen zur umfassenden Untersuchung von praktisch allen bekannten genetisch bedingten Formen von Lippen-Kiefer-Gaumen-[Gesichts-]Spalten

ID
LP6464
Anzahl Gene
143 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
18,5 kb (Core-/Core-canditate-Gene)
419,8 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
COL11A15421NM_001854.4AD, AR
COL2A14464NM_001844.5AD
COL9A12766NM_001851.6AR
FOXE11122NM_004473.4AR
GRHL31671NM_198174.3AD
IRF61404NM_006147.4AD
PAX71563NM_002584.3AR
ACTB1128NM_001101.5AD
ACTG11128NM_001614.5AD
AMER13408NM_152424.4XL
ANKRD117992NM_013275.6AD
ARHGAP293786NM_004815.4AD
ARHGAP314335NM_020754.4AD
ASXL14626NM_015338.6AD
B3GLCT1497NM_194318.4AR
BCOR5166NM_017745.6XL
BMP21191NM_001200.4AD
BPNT21080NM_017813.5AR
C2CD35892NM_015531.6AR
CC2D2A4863NM_001080522.2AR
CDH12649NM_004360.5AD
CDKN1C951NM_000076.2AD, Sus
CHD78994NM_017780.4AD
CHRNG1554NM_005199.5AR
CHST141131NM_130468.4AR
CILK11899NM_014920.5AR
COL11A25211NM_080680.3AD, AR
COLEC10840NM_006438.5AR
COLEC11744NM_024027.5AR
CPLANE19864NM_023073.4AR
CTCF1200NM_006565.4AD
CTNND12907NM_001085458.2AD
DHCR71428NM_001360.3AR
DHODH1188NM_001361.5AR
DLL42058NM_019074.4AD
DOCK66144NM_020812.4AR
DVL12013NM_004421.3AD
DVL32261NM_004423.4AD
DYNC2H112945NM_001080463.2AR, digenisch
DYNC2LI11438NM_016008.4AR
EBP693NM_006579.3XL
EDNRA1284NM_001957.4AD
EFNB11041NM_004429.5XL
EFTUD22919NM_004247.4AD
EIF2S31419NM_001415.4XLR
EIF4A31236NM_014740.4AR
EOGT1584NM_001278689.2AR
EPG57740NM_020964.3AR
ESCO21806NM_001017420.3AR
EYA11779NM_000503.6AD
FAM20C1755NM_020223.4AR
FGD12886NM_004463.3XLR
FGFR12469NM_023110.3AD
FGFR22466NM_000141.5AD
FLNA7920NM_001456.4XL
FLNB7809NM_001457.4AD, AR
FOXC21506NM_005251.3AD
FRAS112039NM_025074.7AR
GJA11149NM_000165.5AD
GLI34743NM_000168.6AD
GPC31743NM_004484.4XLR, Sus
HDAC81134NM_018486.3XL
HYLS1900NM_145014.3AR
IFT1404389NM_014714.4AR
IFT1725250NM_015662.3AR
IFT802334NM_020800.3AR
KAT6A6015NM_006766.5AD
KCNJ21284NM_000891.3AD
KDM6A4206NM_021140.4XL
KIAA05865005NM_001244189.2AR
KIF74032NM_198525.3AR
KMT2D16614NM_003482.4AD
LMNA1995NM_170707.4AR
MAP3K71838NM_003188.4AD
MAPRE2855NM_001143826.3AD
MASP12187NM_139125.4AR
MBTPS21560NM_015884.4XLR
MEIS21413NM_001220482.2AD
MID12004NM_000381.4XLR
MKS11680NM_017777.4AR
MSX1912NM_002448.3AD
MYMK671NM_001080483.3AR
NECTIN11554NM_002855.5AR
NEDD4L2868NM_015277.6AD
NEK13777NM_012224.4AR
NIPBL8415NM_133433.4AD
NOTCH17668NM_017617.5AD
OFD13039NM_003611.3XL
PAX31440NM_181457.4AD, AR
PHF83075NM_015107.3XLR
PIEZO28259NM_022068.4AD
PIGN2796NM_176787.5AR
PIGV1482NM_017837.4AR
POLR1C1041NM_203290.4AR
POLR1D402NM_015972.4AD, AR
PORCN1386NM_203475.3XL
PTCH14344NM_000264.5AD
RBM102793NM_005676.5XLR
ROR22832NM_004560.4AR
RPL5894NM_000969.5AD
RPS26348NM_001029.5AD
SALL43162NM_020436.5AD
SATB22202NM_015265.4AD
SCARF22613NM_153334.7AR
SF3B41275NM_005850.5AD
SHH1389NM_000193.4AD
SIX1855NM_005982.4AD
SIX3999NM_005413.4AD
SIX52220NM_175875.5AD
SKI2187NM_003036.4AD
SLC26A22220NM_000112.4AR
SMAD31278NM_005902.4AD
SMAD41659NM_005359.6AD
SMC1A3702NM_006306.4XL
SMC33654NM_005445.4AD
SMS942NM_004595.5XLR
SNRPB696NM_003091.4AD
SON7556NM_032195.3AD
SOX91530NM_000346.4AD
SPECC1L3354NM_015330.6AD
STAMBP1275NM_006463.6AR
TBX221563NM_001109878.2XL
TCOF14467NM_001135243.2AD
TCTN31824NM_015631.6AR
TELO22514NM_016111.4AR
TFAP2A1296NM_001032280.3AD
TGDS1053NM_014305.4AR
TGFB31239NM_003239.5AD
TGFBR11512NM_004612.4AD
TGFBR21704NM_003242.6AD
TMCO1720NM_019026.6AR
TP632043NM_003722.5AD
TRAPPC93741NM_031466.8AR
TRIM372895NM_015294.6AR
TUBB1335NM_178014.4AD
TXNL4A429NM_006701.5AR
USP9X7713NM_001039590.3XL
WNT5A1143NM_003392.7AD
XYLT12880NM_022166.4AR
ZEB23645NM_014795.4AD
ZIC21599NM_007129.5AD
ZIC31404NM_003413.4XLR
ZSWIM63648NM_020928.2AD

Infos zur Erkrankung

Klinischer Kommentar

Gruppe von Erkrankungen

 

Synonyme
  • (Syndromic) clefting
  • Familial non-syndromic cleft lip and/or familial cleft palate
  • Familial non-syndromic clefting
  • Syndromic cleft lip and/or cleft palate
  • Allelic: Triatrial heart [MONDO:0015450] (HYAL2)
  • 3MC syndrome 1 (MASP1)
  • 3MC syndrome 3 (COLEC10)
  • ADULT syndrome (TP63)
  • Aarskog-Scott syndrome (FGD1)
  • Abruzzo-Erickson syndrome (TBX22)
  • Acampomelic campomelic dysplasia (SOX9)
  • Achondrogenesis Ib (SLC26A2)
  • Achondrogenesis, type II or hypochondrogenesis (COL2A1)
  • Acrocallosal syndrome (KIF7)
  • Acrofacial dysostosis 1, Nager type (SF3B4)
  • Acromelic frontonasal dysostosis (ZSWIM6)
  • Adams-Oliver syndrome 1 (ARHGAP31)
  • Adams-Oliver syndrome 2 (DOCK6)
  • Adams-Oliver syndrome 4 (EOGT)
  • Adams-Oliver syndrome 5 (NOTCH1)/Aortic valve disease 1 (NOTCH1)
  • Adams-Oliver syndrome 6 (DLL4)
  • Al-Gazali-Bakalinova syndrome (KIF7)
  • Andersen syndrome (KCNJ2)
  • Anterior segment anomalies with/-out cataract (EYA1)
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
  • Aortic valve disease 1 (NOTCH1)
  • Apert syndrome (FGFR2)
  • Arboleda-Tham syndrome (KAT6A)
  • Arrhythmogenic right ventricular dysplasia 1 (TGFB3)
  • Arthrogryposis, distal, type 3 (PIEZO2)
  • Arthrogryposis, distal, type 5 (PIEZO2)
  • Arthrogryposis, distal, with impaired proprioception + touch (PIEZO2)
  • Atelosteogenesis, type I (FLNB)
  • Atelosteogenesis, type II (SLC26A2)
  • Atelosteogenesis, type III (FLNB)
  • Atrial fibrillation, familial, 9 (KCNJ2)
  • Avascular necrosis of the femoral head (COL2A1)
  • Baraitser-Winter syndrome 1 (ACTB)
  • Baraitser-Winter syndrome 2 (ACTG)
  • Bardet-Biedl syndrome 13 (MKS1)
  • Bardet-Biedl syndrome 20 (IFT172)
  • Basal cell nevus syndrome (PTCH1)
  • Basel-Vanagait-Smirin-Yosef syndrome (MED25)
  • Beare-Stevenson cutis gyrata syndrome (FGFR2)
  • Beckwith-Wiedemann syndrome (CDKN1C)
  • Bent bone dysplasia syndrome (FGFR2)
  • Blepharocheilodontic syndrome 1 (CDH1)
  • Blepharocheilodontic syndrome 2 (CTNND1)
  • Bohring-Opitz syndrome (ASXL1)
  • Boomerang dysplasia (FLNB)
  • Brachydactyly, type A2 (BMP2)
  • Brachydactyly, type B1(ROR2)
  • Branchiooculofacial syndrome (TFAP2A)
  • Branchiootic syndrome 1 (EYA1)
  • Branchiootic syndrome 3 (SIX1)
  • Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
  • Branchiootorenal syndrome 2 (SIX5)
  • Burn-McKeown syndrome (TXNL4A)
  • CHARGE syndrome (CHD7)
  • COACH syndrome 2 (CC2D2A)
  • Campomelic dysplasia (SOX9)
  • Campomelic dysplasia with autosomal sex reversal (SOX9)
  • Cardiac valvular dysplasia, XL (FLNA)
  • Cardiospondylocarpofacial syndrome (MAP3K7)
  • Carey-Fineman-Ziter syndrome (MYMK)
  • Catel-Manzke syndrome (TGDS)
  • Cerebrocostomandibular syndrome (SNRPB)
  • Chondrodysplasia punctata, XLD (EBP)
  • Chondrodysplasia with joint dislocations, GPAPP type (IMPAD1)
  • Cleft lip with/-out cleft palate [panelapp] (ARHGAP29)
  • Cleft lip/palate [MONDO:0016044] (HYAL2)
  • Cleft lip/palate-ectodermal dysplasia syndrome (NECTIN1)
  • Cleft palate with ankyloglossia (TBX22)
  • Cleft palate, cardiac defects + mental retardation (MEIS2)
  • Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
  • Congenital heart defects, nonsyndromic, 1, XL (ZIC3)
  • Congenital short bowel syndrome (FLNA)
  • Cornelia de Lange syndrome 1 (NIPBL)
  • Cornelia de Lange syndrome 2 (SMC1A)
  • Cornelia de Lange syndrome 3 (SMC3)
  • Cornelia de Lange syndrome 5 (HDAC8)
  • Cortical dysplasia, complex, with other brain malformations 6 (TUBB)
  • Craniofacial dysmorphism, skeletal anomalies + mental retardation syndrome (TMCO1)
  • Craniofacial-deafness-hand syndrome PAX3)
  • Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
  • Craniofrontonasal dysplasia (EFNB1)
  • Craniosynostosis, nonspecific (FGFR2)
  • Crouzon syndrome (FGFR2)
  • Czech dysplasia (COL2A1)
  • De la Chapelle dysplasia (SLC26A2)
  • Deafness, AD 13 (COL11A2)
  • Deafness, AD 20/26 (ACTG)
  • Deafness, AD 23 (SIX1)
  • Deafness, AD 37 (COL11A1)
  • Deafness, AR 53 (COL11A2)
  • Desbuquois dysplasia 2 (XYLT1)
  • Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
  • Diamond-Blackfan anemia 10 (RPS26)
  • Diamond-Blackfan anemia 6 (RPL5)
  • Diastrophic dysplasia (SLC26A2)
  • Diastrophic dysplasia, broad bone-platyspondylic variant (SLC26A2)
  • Duane-radial ray syndrome (SALL4)
  • Dystonia, juvenile-onset (ACTB)
  • Ectodermal dysplasia 3, Witkop type (MSX1)
  • Ectrodactyly, ectodermal dysplasia + cleft lip
  • Ehlers-Danlos syndrome, musculocontractural type 1 (CHST14)
  • Endocrine-cerebroosteodysplasia (CILK1)
  • Epiphyseal dysplasia, multiple, 4 (SLC26A2)
  • Epiphyseal dysplasia, multiple, 6 (COL9A1)
  • Epiphyseal dysplasia, multiple, with myopia and deafness (COL2A1)
  • Escobar syndrome (CRNG)
  • FG syndrome 2 (FLNA)
  • Facial clefting, oblique, 1 (SPECC1L)
  • Fibrochondrogenesis 1 (COL11A1)
  • Fibrochondrogenesis 2 (COL11A2)
  • Focal dermal hypoplasia (PORCN)
  • Fraser syndrome 1 (FRAS1)
  • Frontometaphyseal dysplasia (MAP3K7)
  • Frontometaphyseal dysplasia 1 (FLNA)
  • Gastric cancer, hereditary diffuse, with/-out cleft lip and/or palate (CDH1)
  • Glass syndrome (SATB2)
  • Goldberg-Shprintzen megacolon syndrome (KIFBP)
  • Greig cephalopolysyndactyly syndrome (GLI3)
  • Hartsfield syndrome (FGFR1)
  • Hay-Wells syndrome (TP63)
  • Heterotaxy, visceral, 1, XL (ZIC3)
  • Heterotopia, periventricular, 1 (FLNA)
  • Holoprosencephaly 2 SIX3)
  • Holoprosencephaly 3 (SHH)
  • Holoprosencephaly 5 (ZIC2)
  • Holoprosencephaly 7 (PTCH1)
  • Hydrolethalus syndrome (HYLS1)
  • Hydrolethalus syndrome 2 (KIF7)
  • Hyperphosphatasia with mental retardation syndrome 1 (PIGV)
  • Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
  • Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
  • IFAP syndrome with/-out BRESHECK syndrome (MBTPS2)
  • IMAGE syndrome (CDKN1C)
  • IVIC syndrome (SALL4)
  • Intellectual developmental disorder, XL 99 (USP9X)
  • Intellectual developmental disorder, XL 99, syndromic, female-restricted (USP9X)
  • Intellectual developmental disorder, XL syndromic, Snyder-Robinson type (SMS)
  • Intellectual developmental disorder, XL, syndromic, Siderius type (PHF8)
  • Intestinal pseudoobstruction, neuronal (FLNA)
  • Jackson-Weiss syndrome (FGFR1)
  • Jackson-Weiss syndrome (FGFR2)
  • Joubert syndrome 10 (OFD1)
  • Joubert syndrome 12 (KIF7)
  • Joubert syndrome 17 (C5orf42)
  • Joubert syndrome 18 (TCTN3)
  • Joubert syndrome 23 (KIAA0586)
  • Joubert syndrome 28 (MKS1)
  • Joubert syndrome 9 (CC2D2A)
  • Juberg-Hayward syndrome (ESCO2)
  • Juvenile polyposis
  • KBG syndrome (ANKRD11)
  • Kabuki syndrome 1 (KMT2D)
  • Kabuki syndrome 2 (KDM6A)
  • Keratosis follicularis spinulosa decalvans, XL (MBTPS2)
  • Kniest dysplasia (COL2A1)
  • LADD syndrome (FGFR2)
  • Larsen syndrome (FLNB)
  • Legg-Calve-Perthes disease (COL2A1)
  • Leukodystrophy, hypomyelinating, 11 (POLR1C
  • Limb-mammary syndrome (TP63)
  • Loeys-Dietz syndrome 1 (TGFBR1)
  • Loeys-Dietz syndrome 2 (TGFBR2)
  • Loeys-Dietz syndrome 3 (SMAD3)
  • Loeys-Dietz syndrome 5 (TGFB3)
  • Lymphedema-distichiasis syndrome (FOXC2)
  • Lymphedema-distichiasis syndrome with renal disease + diabetes mellitus (FOXC2)
  • MEHMO syndrome (EIF2S3)
  • MEND syndrome (EBP)
  • Mandibulofacial dysostosis with alopecia (EDNRA)
  • Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
  • Marden-Walker syndrome (PIEZO2)
  • Marshall syndrome (COL11A1)
  • Meckel syndrome 1 (MKS1)
  • Meckel syndrome 6 (CC2D2A)
  • Melnick-Needles syndrome (FLNA)
  • Mental retardation, AD 21 (CTCF(`)
  • Mental retardation, AR 13 (TRAPPC9)
  • Mental retardation, XL syndromic 16 (FGD1)
  • Microcephaly-capillary malformation syndrome (STAMBP)
  • Microphthalmia with coloboma 5 (SHH)
  • Microphthalmia, syndromic 2 (BCOR)
  • Miller syndrome (DHODH)
  • Mowat-Wilson syndrome (ZEB2)
  • Mulibrey nanism (TRIM37)
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 (PIGN)
  • Multiple pterygium syndrome, lethal type (CRNG)
  • Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
  • Myhre syndrome (SMAD4) 3
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, autistic features (ZSWIM6)
  • Olmsted syndrome, XL (MBTPS2)
  • Opitz GBBB syndrome, type I (MID1)
  • Opitz GBBB syndrome, type II (SPECC1L)
  • Orofacial cleft 5 (MSX1)
  • Orofacial cleft 6 (IRF6)
  • Orofacial cleft 7 (NECTIN1)
  • Orofacial cleft 8 (TP63)
  • Orofaciodigital syndrome I (OFD1)
  • Orofaciodigital syndrome IV (TCTN3)
  • Orofaciodigital syndrome VI (C5orf42)
  • Orofaciodigital syndrome XIV (C2CD3)
  • Osteoarthritis with mild chondrodysplasia (COL2A1)
  • Osteogenesis imperfecta, type XIX (MBTPS2)
  • Osteoglophonic dysplasia (FGFR1)
  • Osteopathia striata with cranial sclerosis (AMER1)
  • Otofaciocervical syndrome (EYA1)
  • Otopalatodigital syndrome, type I (FLNA)
  • Otopalatodigital syndrome, type II (FLNA)
  • Otospondylomegaepiphyseal dysplasia, AD + AR (COL11A2)
  • Pallister-Hall syndrome (GLI3)
  • Periventricular nodular heterotopia 7 (NEDD4L)
  • Peters-plus syndrome (B3GLCT)
  • Pfeiffer syndrome (FGFR1)
  • Pfeiffer syndrome (FGFR2)
  • Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
  • Polydactyly, postaxial, types A1 + B (GLI3)
  • Polydactyly, preaxial, type IV (GLI3)
  • Polyposis, juvenile intestinal (SMAD4)
  • Popliteal pterygium syndrome 1 (IRF6)
  • Raine syndrome (FAM20C)
  • Rapp-Hodgkin syndrome (TP63)
  • Retinitis pigmentosa 23 (OFD1)
  • Retinitis pigmentosa 71 (IFT172)
  • Retinitis pigmentosa 80 (IFT140)
  • Rhabdomyosarcoma 2, alveolar (PAX3)
  • Roberts-SC phocomelia syndrome (ESCO2)
  • Robin sequence with cleft mandible + limb anomalies (EIF4A3)
  • Robinow syndrome, AD 1 (WNT5A)
  • Robinow syndrome, AD 2 (DVL1)
  • Robinow syndrome, AD 3 (DVL3)
  • Robinow syndrome, AR (ROR2)
  • SED congenita (COL2A1)
  • SMED Strudwick type (COL2A1)
  • Saethre-Chotzen syndrome (FGFR2)
  • Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
  • Scaphocephaly, maxillary retrusion + mental retardation (FGFR2)
  • Schizencephaly (SHH)
  • Schizencephaly (SIX3)
  • Short QT syndrome 3 (KCNJ2)
  • Short stature, facial dysmorphism + skeletal anomalies with/-out cardiac anomalies 1 (BMP2)
  • Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
  • Short-rib thoracic dysplasia 14 with polydactyly (KIAA0586)
  • Short-rib thoracic dysplasia 15 with polydactyly (DYNC2LI1)
  • Short-rib thoracic dysplasia 2 with/-out polydactyly (IFT80)
  • Short-rib thoracic dysplasia 3 with/-out polydactyly (DYNC2H1)
  • Short-rib thoracic dysplasia 6 with or without polydactyly (NEK1)
  • Short-rib thoracic dysplasia 9 with/-out polydactyly (IFT140)
  • Shprintzen-Goldberg syndrome (SKI)
  • Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
  • Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
  • Single median maxillary central incisor (SHH)
  • Smith-Lemli-Opitz syndrome (DHCR7)
  • Spondylocarpotarsal synostosis syndrome (FLNB)
  • Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
  • Spondyloperipheral dysplasia (COL2A1)
  • Stickler sydrome, type I, nonsyndromic ocular (COL2A1)
  • Stickler syndrome, type I (COL2A1)
  • Stickler syndrome, type II (COL11A1)
  • Stickler syndrome, type IV (COL9A1)
  • Symmetric circumferential skin creases, congenital, 1 (TUBB)
  • Symmetric circumferential skin creases, congenital, 2 (MAPRE2)
  • TARP syndrome (RBM10)
  • Teebi hypertelorism syndrome (SPECC1L)
  • Terminal osseous dysplasia (FLNA)
  • Tooth agenesis, selective, 1, with/-out orofacial cleft (MSX1)
  • Treacher Collins syndrome 1 (TCOF1)
  • Treacher Collins syndrome 2 (POLR1D)
  • Treacher Collins syndrome 3 (POLR1C)
  • Treacher-Collins syndrome 4 (POLR1B)
  • Trigonocephaly 1 (FGFR1)
  • VACTERL association, XL (ZIC3)
  • VICI syndrome (EPG5)
  • Van den Ende-Gupta syndrome (SCARF2)
  • Van der Woude syndrome (IRF6)
  • Van der Woude syndrome 2 (GRHL3)
  • Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
  • Waardenburg syndrome, type 1 (PAX3)
  • Waardenburg syndrome, type 3 (PAX3)
  • You-Hoover-Fong syndrome (TELO2)
  • ZTTK syndrome (SON)
  • foot malformation 4 (TP63)
  • hereditary hemorrhagic telangiectasia syndrome (SMAD4)
  • palate syndrome 3 (TP63)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • Sus
  • XL
  • XLR
  • digenisch
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

Kein Text hinterlegt