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Klinische FragestellungAutismus, Suszeptibilität

Zusammenfassung

Kurzinformation

Ein kuratiertes panel mit >90 Genen - incl. 7 Leitlinien-kuratierten Genen - für die umfassende Analyse der genetischen Suszeptibilität für Autismusspektrum-Erkrankungen

ID
AP6780
Anzahl Gene
36 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
18,5 kb (Core-/Core-canditate-Gene)
168,0 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise
  1. array, 2. FRAX, 3. Gene: MECP2, PTEN empfohlen ACMG guidelines
    NGS + [Sanger]

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
DHCR71428NM_001360.3AR
FMR11899NM_002024.6XL
MECP21461NM_004992.4Sus
NF18457NM_001042492.3Sus
PTEN1212NM_000314.8Sus
SYNGAP14032NM_006772.3Sus
ADNP3309NM_015339.5AD
ANK211874NM_001148.6AD
ARID1B6750NM_001374820.1Sus
ASH1L8895NM_018489.3AD
ASXL36747NM_030632.3AD
CHD25487NM_001271.4Sus
CHD87746NM_001170629.2AD, Sus
CNTN43081NM_001206955.2Ass
CNTNAP23996NM_014141.6Sus
DDX3X1986NM_001193416.3Sus
DSCAM5985NM_001389.5n.k.
DYRK1A2292NM_001396.5AD
GRIN2B4455NM_000834.5AD
KATNAL21401NM_031303.3AD
KMT2A11919NM_001197104.2Sus
KMT5B1182NM_017635.5AD
MYT1L3555NM_015025.4AD
NAA152601NM_057175.5AD
NLGN32487NM_018977.4XL
POGZ4233NM_015100.4AD
PTCHD12667NM_173495.3XLR
RELN10383NM_005045.4Sus
SCN2A6018NM_021007.3AD
SETD54329NM_001080517.3Sus
SHANK25404NM_012309.5AD
SHANK35386NM_001372044.2AD
SPAST1851NM_014946.4Sus
TBR12049NM_006593.4AD
TRIP125979NM_004238.3AD, Sus
TSC25424NM_000548.5Sus

Infos zur Erkrankung

Klinischer Kommentar

Autismus Spektrum Erkrankungen (ASD) sind Entwicklungsstörungen mit besonderen sozialen, kommunikativen und Verhaltensproblemen. Genetische Veränderungen stellen neben anderen meist unbekannten Ursachen Risikofaktoren für die Entwicklung von ASD dar. ASD zeigen sich in frühester Kindheit, viermal häufiger bei Knaben als Mädchen. Die Vererbung ist in aller Regel multifaktoriell, d.h. mehrere Gene interagieren in komplexer Art und Weise miteinander sowie mit Umwelteinflüssen. Unauffällige genetische Befunde sind eher die Regel.

Referenz: https://www.awmf.org/leitlinien/detail/ll/028-018.html

 

Synonyme
  • Alias: Autism susceptibility
  • Allelic: Brugada syndrome 3 (CACNA1C)
  • Allelic: Cardiac arrhythmia, ankyrin-B-related (ANK2)
  • Allelic: Cowden syndrome 1 (PTEN)
  • Allelic: Deafness, AR 97 (MET)
  • Allelic: Epilepsy, familial temporal lobe, 7 (RELN)
  • Allelic: Episodic ataxia, type 9 (SCN2A)
  • Allelic: Fragile X tremor/ataxia syndrome(FMR1)
  • Allelic: Glioma susceptibility 2 (PTEN)
  • Allelic: Leukemia, juvenile myelomonocytic (NF1)
  • Allelic: Lhermitte-Duclos syndrome (PTEN)
  • Allelic: Long QT syndrome 4 (ANK2)
  • Allelic: Long QT syndrome 8 (CACNA1C)
  • Allelic: Meningioma (PTEN)
  • Allelic: Neurofibromatosis, familial spinal (NF1)
  • Allelic: Osteofibrous dysplasia, susceptibility to (MET)
  • Allelic: Premature ovarian failure 1 (FMR1)
  • Allelic: Renal cell carcinoma, papillary, 1, familial + somatic (MET)
  • Allelic: Schizophrenia 15 (SHANK3)
  • Allelic: Seizures, benign familial infantile, 3 (SCN2A)
  • Allelic: Sinoatrial node dysfunction and deafness (CACNA1D)
  • Allelic: VATER association, macrocephaly, ventriculomegaly (PTEN)
  • Asperger syndrome susceptibility, XL (NLGN3)
  • Asperger syndrome susceptibility, XL 2 (NLGN4)
  • Autism susceptibility 15 (CNTNAP2)
  • Autism susceptibility 16 (SLC9A9)
  • Autism susceptibility 17 (SHANK2)
  • Autism susceptibility [panelapp] (CACNA2D3)
  • Autism susceptibility [panelapp] (DIP2C)
  • Autism susceptibility [panelapp] (ERBIN)
  • Autism susceptibility [panelapp] (ILF2)
  • Autism susceptibility [panelapp] (INTS6)
  • Autism susceptibility [panelapp] (KAT2B)
  • Autism susceptibility [panelapp] (LEO1)
  • Autism susceptibility [panelapp] (NCKAP1)
  • Autism susceptibility [panelapp] (PHF3)
  • Autism susceptibility [panelapp] (RANBP17)
  • Autism susceptibility [panelapp] (SRSF11)
  • Autism susceptibility [panelapp] (TAOK2)
  • Autism susceptibility [panelapp] (UBN2)
  • Autism susceptibility [panelapp] (USP15)
  • Autism susceptibility to, 1 (EIF4E)
  • Autism susceptibility to, 18 (CHD8)
  • Autism susceptibility to, 20 (NLGN1)
  • Autism susceptibility, XL 1 (NLGN3)
  • Autism susceptibility, XL 2 (NLGN4)
  • Autism susceptibility, XL 3 (MECP2)
  • Autism susceptibility, XL 4 (PTCHD1)
  • Autism susceptibility, XL 5 (RPL10)
  • Autism susceptibility, XL 6 (TMLHE)
  • Bainbridge-Ropers syndrome (ASXL3)
  • Branched-chain keto acid dehydrogenase kinase deficiency (BCKDK)
  • Coffin-Siris syndrome (ARID1B)
  • Coffin-Siris syndrome 8 (SMARCC2)
  • Combined immunodeficiencies with associated or syndromic features (KMT2A)
  • Cone-rod dystrophy 7 (RIMS1)
  • Cortical dysplasia-focal epilepsy syndrome (CNTNAP2)
  • Desanto-Shinawi syndrome (WAC)
  • Developmental + epileptic encephalopathy 11 (SCN2A)
  • Developmental + epileptic encephalopathy 27 (GRIN2B)
  • Developmental + epileptic encephalopathy 43 (GABRB3)
  • Developmental + epileptic encephalopathy 94 (CHD2)
  • Developmental delay with variable intellectual impairment + behavioral abnormalities (TCF20)
  • Developmental delay, hypotonia, musculoskeletal defects, behavioral abnormalities (SRCAP)
  • Dias-Logan syndrome (BCL11A)
  • Down syndrome + congenital heart disease (DSCAM)
  • Encephalopathy, neonatal severe (MECP2)
  • Epilepsy, childhood absence, susceptibility to, 5C (GABRB3)
  • Epilepsy, childhood absence, susceptibility to, 6 (CACNA1H)
  • Epilepsy, idiopathic generalized, susceptibility to, 6 (CACNA1H)
  • Erythermalgia, primary (SCN9A)
  • Floating-Harbor syndrom (SRCAP)
  • Fragile X syndrome (FMR1)
  • Fraser syndrome 3 (GRIP1)
  • Global developmental delay with speech + behavioral abnormalities (TNRC6B)
  • Global developmental delay with/-out impaired intellectual development (CUX1)
  • HP:0012759 0000717 0007018 0001250 0011471 (CMIP)
  • Hao-Fountain syndrome (USP7)
  • Helsmoortel-Van der Aa syndrome (ADNP)
  • Hyperaldosteronism, familial, type IV (CACNA1H)
  • Impaired intellectual development, distinctive facial features with/-out cardiac defects (MED13L)
  • Insensitivity to pain, congenital (SCN9A)
  • Intellectual developmental disorder with autism + speech delay (TBR1)
  • Intellectual developmental disorder with language impairment with/-out autistic features (FOXP1)
  • Intellectual developmental disorder with speech delay, autism, dysmorphic facies (CNOT3)
  • Intellectual developmental disorder, AD 41 (TBL1XR1)
  • Intellectual developmental disorder, AD 44, with microcephaly (TRIO)
  • Intellectual developmental disorder, AD 45 (CIC)
  • Intellectual developmental disorder, AD 50, with behavioral abnormalities (NAA15)
  • Intellectual developmental disorder, AD 6, with/-out seizures (GRIN2B)
  • Intellectual developmental disorder, AD 61 (MED13)
  • Intellectual developmental disorder, AD 63, with macrocephaly (TRIO)
  • Intellectual developmental disorder, AD 64 (RAB39B)
  • Intellectual developmental disorder, AD 64 (ZNF292)
  • Intellectual developmental disorder, AD 67 (GRIA1)
  • Intellectual developmental disorder, AR 57 (MBOAT7)
  • Intellectual developmental disorder, AR 65 (KDM5B)
  • Intellectual developmental disorder, AR 76 (GRIA1)
  • Intellectual developmental disorder, XL (NLGN4)
  • Intellectual developmental disorder, XL syndromic 14 (UPF3B)
  • Intellectual developmental disorder, XL, syndrome, Snijders Blok type (DDX3X)
  • Intellectual developmental disorder, XL, syndromic LUBS type (MECP2)
  • Intellectual developmental disorder, XL, syndromic, 13 (MECP2)
  • Intellectual developmental disorder, XL, syndromic, 35 (RPL10)
  • Intellectual disability, autism (BAZ2B)
  • KBG syndrome (ANKRD11)
  • Kabuki syndrome 2 (KDM6A)
  • Kleefstra syndrome 2 (KMT2C)
  • Lissencephaly 2 [Norman-Roberts type] (RELN)
  • Lymphangioleiomyomatosis (TSC1)
  • Macrocephaly/autism syndrome (PTEN)
  • Mental retardation, AD 23 (SETD5)
  • Mental retardation, AD 28 (ADNP)
  • Mental retardation, AD 39 (MYT1L)
  • Mental retardation, AD 49 (TRIP12)
  • Mental retardation, AD 5 (SYNGAP)
  • Mental retardation, AD 51 (KMT5B)
  • Mental retardation, AD 52 (ASH1L)
  • Mental retardation, AD 7 (DYRK1A)
  • Mental retardation, AR 27 (LINS1)
  • Microcephaly 18, primary, AD (WDFY3)
  • Myoclonic-atonic epilepsy (SLC6A1)
  • Neurodevelopmental disorder with hypotonia, impaired expressive language +/- seizures (DEAF1)
  • Neurodevelopmental disorder with regression, abn. movements, speech loss, seizures (IRF2BPL)
  • Neurodevelopmental disorder with/-out autism/seizures (CUL3)
  • Neurofibromatosis, type 1 (NF1)
  • Neurofibromatosis-Noonan syndrome (NF1)
  • Neuropathy, hereditary sensory + autonomic, type IID (SCN9A)
  • Parkinson disease 11 (GIGYF2)
  • Paroxysmal extreme pain disorder (SCN9A)
  • Phelan-McDermid syndrome [Rett syndrome-like phenotype] (SHANK3)
  • Pierpont syndrome (TBL1XR1)
  • Pitt-Hopkins like syndrome 1 (CNTNAP2)
  • Pitt-Hopkins-like syndrome 2 (NRXN1)
  • Primary aldosteronism, seizures + neurologic abnormalities (CACNA1D)
  • Pseudohypoaldosteronism, type IIE (CUL3)
  • Respiratory infections, short stature, hypertelorism, hairy elbows, dev. delay, ID (KMT2A)
  • Rett syndrome (MECP2)
  • Rett syndrome, atypical (MECP2)
  • Rett syndrome, preserved speech variant (MECP2)
  • Schaaf-Yang syndrome (MAGEL2)
  • Schizophrenia, susceptibility to, 17 (NRXN1)
  • Small fiber neuropathy (SCN9A)
  • Smith-Lemli-Opitz syndrome (DHCR7)
  • Spastic paraplegia 4, AD (SPAST)
  • TRIP12-related intellectual disability with/-out ASD (TRIP12)
  • Timothy syndrome (CACNA1C)
  • Tuberous sclerosis-1 (TSC1)
  • Tuberous sclerosis-2 (TSC2)
  • Vulto-van Silfout-de Vries syndrome (DEAF1)
  • Watson syndrome (NF1)
  • White-Sutton syndrome [mental retardation, AD 37] (POGZ)
  • Wiedemann-Steiner syndrome (KMT2A)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • Ass
  • Sus
  • XL
  • XLR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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