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Klinische FragestellungPränatal auffälliges Herz, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes DNA panel zur Differentialdiagnostik bei [pränatal] auffälligen Herzbefunden mit 16 "core"/"core candidate"-Genen bzw. insgesamt 78 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
PP0004
Anzahl Gene
53 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
41,8 kb (Core-/Core-canditate-Gene)
150,7 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • Chorionzotten (CVS)
  • Fruchtwasser (nach AC)
  • Nabelschnurblut (NB)
Diagnostische Hinweise

NGS +

[[Sanger]]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
ACTC11134NM_005159.5AD
ANKRD117992NM_013275.6AD
CDK134711NM_003718.5AD
CHD78994NM_017780.4AD
ELN2175NM_000501.4AD
GATA41329NM_002052.5AD
GATA61788NM_005257.6AD
NKX2-5975NM_004387.4AD
PIGL759NM_004278.4AR
PTPN111782NM_002834.5AD
TAB22082NM_015093.6AD
TBX11488NM_080647.1AD
TBX201344NM_001077653.2AD
TBX51557NM_000192.3AD
WDPCP2241NM_015910.7AR
ZIC31404NM_003413.4XLR
ABL13450NM_007313.2AD
ACVR2B1539NM_001106.4AD
B3GAT31008NM_012200.4AR
BMP21191NM_001200.4AD
BRAF2301NM_004333.6AD
CFAP531545NM_145020.5AR
CHD45739NM_001273.5AD
CITED2813NM_001168388.3AD
CRELD11269NM_001031717.4AD
DSP8616NM_004415.4AD, AR
FLNA7920NM_001456.4XL
GATA51194NM_080473.5AD, AR
GDF11119NM_001492.6AD, AR
GJA11149NM_000165.5AD, AR
JAG13657NM_000214.3AD
KMT2D16614NM_003482.4AD
KRAS567NM_004985.5AD
KYNU924NM_001032998.2AR
LEFTY2999NM_001172425.3AD
LMNA1995NM_170707.4AD, AR
MAP2K11182NM_002755.4AD
MYH65820NM_002471.4AR
NAA152601NM_057175.5AD
NKX2-6906NM_001136271.3AR
NODAL1044NM_018055.5AD
NOTCH17668NM_017617.5AD
NR2F21245NM_021005.4AD
NRAS570NM_002524.5AD
PRKD12739NM_002742.3AD
RAF11947NM_002880.4AD
ROBO14656NM_001145845.2AD
SCO2801NM_005138.3AR
SHROOM35991NM_020859.4AD
SMAD61491NM_005585.5AD
TLL11179NM_001204760.2AD
TRAF72013NM_032271.3AD
ZFPM23456NM_012082.4AD

Infos zur Erkrankung

Klinischer Kommentar

Angeborene Herzerkrankungen (KHK) sind die häufigste Form von Geburtsfehlern. Die Inzidenz von KHK beträgt etwa 7,4-10/1000 bei Lebendgeborenen, bei Frühgeburten ist sie wahrscheinlich zehnmal höher und in früheren Schwangerschaftsstadien sicher noch höher. Die kardiovaskuläre Entwicklung ist ein komplexer Prozess, an dem viele genetische und meist noch unbekannte Umweltfaktoren beteiligt sind. Die monogenen KHKs werden oft im Zusammenhang mit de novo-Genmutationen beobachtet, bzw. sie folgen allen Vererbungsmustern. Die DNA-Diagnoseausbeute ist nicht bekannt. Daher stellt ein negatives Ergebnis keinerlei Ausschluss der klinischen Diagnose dar.

Referenz: https://pubmed.ncbi.nlm.nih.gov/31941532/

 

Synonyme
  • Alias: Prenatally unusual heart ultrasound findings
  • Allelic: 46XX sex reversal 5 (NR2F2)
  • Allelic: 46XY sex reversal 9 (ZFPM2)
  • Allelic: Alagille syndrome 1 (JAG1)
  • Allelic: Alagille syndrome 2 (NOTCH2)
  • Allelic: Blepharocheilodontic syndrome 2 (CTNND1)
  • Allelic: Brachydactyly, type A2 (BMP2)
  • Allelic: Cardiomyopathy, dilated, 1EE (MYH6)
  • Allelic: Cardiomyopathy, dilated, 1R (ACTC1)
  • Allelic: Cardiomyopathy, hypertrophic, 11 (ACTC1)
  • Allelic: Cardiomyopathy, hypertrophic, 14 (MYH6)
  • Allelic: Craniometaphyseal dysplasia, AR (GJA1)
  • Allelic: Craniosynostosis 7, susceptibility to (SMAD6)
  • Allelic: Cutis laxa, AD (ELN)
  • Allelic: Diaphragmatic hernia 3 (ZFPM2)
  • Allelic: Epidermolysis bullosa, lethal acantholytic (DSP)
  • Allelic: Erythrokeratodermia variabilis et progressiva 3 (GJA1)
  • Allelic: FG syndrome 2 (FLNA)
  • Allelic: HFE hemochromatosis, modifier of (BMP2)
  • Allelic: Hutchinson-Gilford progeria (LMNA)
  • Allelic: Hydroxykynureninuria (KYNU)
  • Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
  • Allelic: Hypothyroidism, congenital nongoitrous, 5 (NKX2-5)
  • Allelic: Keratosis palmoplantaris striata II (DSP)
  • Allelic: Laing distal myopathy (MYH7)
  • Allelic: Left ventricular noncompaction 4 (ACTC1)
  • Allelic: Leukemia, Philadelphia chromosome+, resistant to imatinib (ABL1)
  • Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
  • Allelic: Myopia 6 (SCO2)
  • Allelic: Neurodev. disorder, intention tremor, pyramidal signs, dyspraxia, ocular anomalies (SMG9)
  • Allelic: Oculodentodigital dysplasia AD + AR (GJA1)
  • Allelic: Palmoplantar keratoderma with congenital alopecia (GJA1)
  • Allelic: Radioulnar synostosis, nonsyndromic (SMAD6)
  • Allelic: Sick sinus syndrome 3 (MYH6)
  • Allelic: Skin fragility-woolly hair syndrome (DSP)
  • Allelic: Syndactyly, type III (GJA1)
  • Allelic: Testicular anomalies with/-out congenital heart disease (GATA4)
  • Allelic: Wolff-Parkinson-White syndrome (PRKAG2)
  • Adams-Oliver syndrome 5 (NOTCH1)
  • Aortic valve disease 1 (NOTCH1)
  • Aortic valve disease 2 (SMAD6)
  • Arrhythmogenic right ventricular dysplasia 8 (DSP)
  • Atrial septal defect 2 (GATA4)
  • Atrial septal defect 3 (MYH6)
  • Atrial septal defect 4 (TBX20)
  • Atrial septal defect 5 (ACTC1)
  • Atrial septal defect 6 (TLL1)
  • Atrial septal defect 7, with/-out AV conduction defects (NKX2-5)
  • Atrial septal defect 8 (CITED2)
  • Atrial septal defect 9 (GATA6)
  • Atrioventricular septal defect 3 (GJA1)
  • Atrioventricular septal defect 4 (GATA4)
  • Atrioventricular septal defect 5 (GATA6)
  • Atrioventricular septal defect, partial, with heterotaxy syndrome (CRELD1)
  • Atrioventricular septal defect, susceptibility to, 2 (CRELD1)
  • CHARGE syndrome (CHD7)
  • Cardiac valvular dysplasia 1 (PLD1)
  • Cardiac valvular dysplasia, XL (FLNA)
  • Cardiac, facial + digital anomalies with developmental delay (TRAF7)
  • Cardiac-urogenital syndrome (MYRF)
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (SCO2)
  • Cardiomyopathy, dilated, 1S (MYH7)
  • Cardiomyopathy, dilated, with woolly hair + keratoderma (DSP)
  • Cardiomyopathy, hypertrophic 6 (PRKAG2)
  • Cardiomyopathy, hypertrophic, 1 (MYH7)
  • Cardiovascular anomalies [panelapp] (CTNND1)
  • Ciliary dyskinesia, primary, 3, with or without situs inversus (DNAH5)
  • Cleft palate, cardiac defects + mental retardation (MESI2)
  • Congenital cardiac malformations [panelapp] (HYAL2)
  • Congenital heart defects + ectodermal dysplasia (PRKD1)
  • Congenital heart defects + skeletal malformations syndrome (ABL1)
  • Congenital heart defects, multiple types, 4 (NR2F2)
  • Congenital heart defects, multiple types, 5 (GATA5)
  • Congenital heart defects, nonsyndromic, 1, XL (ZIC3)
  • Congenital heart defects, nonsyndromic, 2 (TAB2)
  • Congenital myopathy 7A, myosin storage, AD (MYH7)
  • Congenital myopathy 7B, myosin storage, AR (MYH7)
  • Conotruncal anomaly face syndrome (TBX1)
  • Conotruncal heart malformations (NKX2-6)
  • Conotruncal heart malformations, variable (NKX2-5)
  • Cor triatriatum [panelapp] (HYAL2)
  • Deafness, congenital heart defects + posterior embryotoxon (JAG1)
  • DiGeorge syndrome (TBX1)
  • Dilated cardiomyopathy with woolly hair, keratoderma + tooth agenesis (DSP)
  • Encephalitis/encephalopathy, mild, with reversible myelin vacuolization (MYRF)
  • Glycogen storage disease of heart, lethal congenital (PRKAG2)
  • Hajdu-Cheney syndrome (NOTCH2)
  • Heart and brain malformation syndrome (SMG9)
  • Heart valve disease [MONDO:0002869] [panelapp] (ADAMTS19)
  • Heart-hand syndrome, Slovenian type (LMNA)
  • Heterotaxy (SHROOM3)
  • Heterotaxy syndrome (LEFTY2)
  • Heterotaxy, visceral, 1, XL (ZIC3)
  • Heterotaxy, visceral, 2, AD (CFC1)
  • Heterotaxy, visceral, 4, AD (ACVR2B)
  • Heterotaxy, visceral, 5 (NODAL)
  • Heterotaxy, visceral, 6, AR (CFAP53)
  • Heterotaxy, visceral, 7, AR (MMP21)
  • Holt-Oram syndrome (TBX5)
  • Hypoplastic left heart syndrome 1 (GJA1)
  • Hypoplastic left heart syndrome 2 (NKX2-5)
  • Impaired intellectual developm. + distinctive facial features +/- cardiac defects (MED13L)
  • Intellectual developmental disorder, cardiac defects + dysmorphic facies (TMEM94)
  • Kabuki syndrome 1 (KMT2D)
  • Kabuki syndrome 2 (KDM6A)
  • Left ventricular noncompaction 5 (MYH7)
  • Malouf syndrome (LMNA)
  • Mental retardation, AD 50 (NAA15)
  • Mult. joint dislocat., short stature, craniofacial dysmorph., with/-out cong. heart def. (B3GAT3)
  • Non-syndromic heart valve disease [panelapp] (ADAMTS19)
  • Noonan syndrome 14 (SPRED2)
  • Pancreatic agenesis + congenital heart defects (GATA6)
  • Persistent truncus arteriosus (GATA6)
  • Persistent truncus arteriosus (NKX2-6)
  • Pulmonary hypoplasia, abn. diaphragma, an-/microphthalmia, cardiac defects [panelapp] (WNT7B)
  • Right atrial isomerism [Ivemark] (GDF1)
  • Short stature, facial dysmorphism + skeletal anomalies with/-out cardiac anomalies (BMP2)
  • Sifrim-Hitz-Weiss syndrome (CHD4)
  • Structural heart defects + renal anomalies syndrome (TMEM260)
  • Supravalvar aortic stenosis (ELN)
  • Tetralogy of Fallot (GATA4, GATA6, JAG1, NKX2-5, ROBO1, ZFPM2)
  • VACTERL association, XL (ZIC3)
  • Velocardiofacial syndrome (TBX1)
  • Ventricular septal defect 1 (GATA4)
  • Ventricular septal defect 2 (CITED2)
  • Ventricular septal defect 3 (NKX2-5)
  • Vertebral, cardiac, renal + limb defects syndrome 1 (HAAO)
  • Vertebral, cardiac, renal + limb defects syndrome 2 (KYNU)
  • Vertebral, cardiac, renal, and limb defects syndrome 3 (NADSYN1)
  • Vertebral, cardiac, tracheoesophageal, renal, limb defects (WBP11)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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