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Klinische FragestellungGehirngefäß-Fehlbildungen, Differentialdiagnose

Auftragsschein Klin. Fragestellung

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Gehirngefäß-Fehlbildungen mit 11 bzw. 33 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
GP7766
Anzahl Gene
29 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
21,5 kb (Core-/Core-canditate-Gene)
99,4 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
ACTA21134NM_001613.4AD
ACVRL11512NM_000020.3AD
CCM21335NM_031443.4AD
COL3A14401NM_000090.4AD, AR
ENG1878NM_000118.3AD
KRIT12211NM_194456.1AD
PDCD10639NM_145860.2AD
RASA13144NM_002890.3AD
SAMHD11881NM_015474.4AR
SLC2A101626NM_030777.4AR
SMAD41659NM_005359.6AD
ADA21536NM_001282225.2AR
ATR7935NM_001184.4AR
CBL2721NM_005188.4AD
CEP1524965NM_014985.4AR
EPHB42964NM_004444.5AD
FLVCR21581NM_017791.3AR
GDF21290NM_016204.4AD
GUCY1A12073NM_000856.6AR
HBB444NM_000518.5AR
IRAG12715NM_001098579.3n.k.
MYH115919NM_002474.3AD
NF18457NM_001042492.3AD
PCNT10011NM_006031.6AR
PKD22907NM_000297.4AD
RNF21315624NM_001256071.3AD, AR
SMAD91404NM_001127217.3AD
THSD12563NM_018676.4AD
YY1AP12823NM_001198899.2AR

Infos zur Erkrankung

Klinischer Kommentar

Heterogene Gruppe von Erkrankungen

 

Synonyme
  • Alias: Grange occlusive arterial syndrome (YY1AP1)
  • Allelic: Aortic aneurysm familial thoracic 6 (ACTA2)
  • Allelic: Intellectual developmental disorder, speech delay, autism + dysmorphic facies (CNOT3)
  • Allelic: Lymphatic malformation 7 (EPHB4)
  • Allelic: Mental retardation, AD 23 (SETD5)
  • Allelic: Microcephaly 9, primary, AR (CEP152)
  • Allelic: Multisystemic smooth muscle dysfunction syndrome (ACTA2)
  • Allelic: Pulmonary arterial hypertension, hereditary (ACVRL1)
  • Allelic: Pulmonary hypertension, primary, 2 (SMAD9)
  • Aneurysm, intracranial berry, 12 (THSD1)
  • Arterial tortuosity syndrome; "Moyamoya" (SLC2A10)
  • Brain aneurysm [MONDO:0005291] (ANGPTL6)
  • Capillary malformation-arteriovenous malformation (CCM2)
  • Capillary malformation-arteriovenous malformation (RASA1)
  • Capillary malformation-arteriovenous malformation 2 (EPHB4)
  • Cavernous malformations of CNS + retina (KRIT1)
  • Cerebral cavernous malformations 3 (PDCD10)
  • Cerebral cavernous malformations-1 (KRIT1)
  • Chilblain lupus 2; Aicardi-Goutieres syndrome 5; "Moyamoya" (SAMHD1)
  • Cutaneous telangiectasia + cancer syndrome, familial (ATR)
  • Early-onset "Moyamoya" angiopathy (CBL)
  • Ehlers-Danlos syndrome, type IV (COL3A1)
  • Grange syndrome (YY1AP1)
  • Hyperkeratotic cutaneous capillary-venous malformations, cerebral capillary malformations (KRIT1)
  • Intellectual disability-facial dysmorphism syndrome, haploinsufficiency [MONDO:00143369] (SETD5)
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
  • Moyamoya disease (NF1)
  • Moyamoya disease (PCNT)
  • Moyamoya disease 2, susceptibility to (RNF213)
  • Moyamoya disease 5 (ACTA2)
  • Moyamoya disease 6 with achalasia (GUCY1A3)
  • Moyamoya disease [MONDO:0016820] (CNOT3)
  • Moyamoya disease [MONDO:0016820] (SETD5)
  • Moyamoya-like angiopathy (MYH11)
  • Parkes Weber syndrome (RASA1)
  • Polycystic kidney disease 1 (PKD1)
  • Polycystic kidney disease 2 (PKD2)
  • Proliferative vasculopathy + hydranencephaly-hydrocephaly syndrome (FLVCR2)
  • Seckel syndrome 1 (ATR)
  • Seckel syndrome 5 (CEP152)
  • Sickle cell anemia (HBB)
  • Sifrim-Hitz-Weiss syndrome (CHD4)
  • Sneddon syndrome (ADA2)
  • Telangiectasia, hereditary hemorrhagic, type 1 (ENG)
  • Telangiectasia, hereditary hemorrhagic, type 2 (ACVRL1)
  • Telangiectasia, hereditary hemorrhagic, type 5 (GDF2)
  • Vasculitis, autoinflammation, immunodeficiency, hematologic defects syndrome (ADA2)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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