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ErkrankungAutismus, Suszeptibilität

Zusammenfassung

Kurzinformation

Ein kuratiertes panel mit 38 Genen (incl. 2 core Genen) für die umfassende Analyse der genetischen Suszeptibilität für Autismusspektrum-Erkrankungen

ID
AP6780
Anzahl Gene
32 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
8,7 kb (Core-/Basis-Gene)
154,3 kb (Erweitertes Panel)
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-GErbgang
FMR11899XL
MECP21461XL
PTEN1212AD und/oder SMu und/oder Sus
SYNGAP14032AD
ADNP3309AD und/oder Impr
ANK211874AD
ARID1B6750AD und/oder SMu und/oder Impr
ASH1L8895AD
ASXL36747AD
CHD25487AD und/oder Impr
CHD87746AD und/oder Impr
CNTN43081Ass
CNTNAP23996AR
DSCAM5985AD
DYRK1A2292AD
GRIN2B4455AD
KATNAL21401AD
KMT2A11919AD und/oder Gen Fusion und oder Impr
KMT5B1182AD und/oder Impr
MYT1L3555AD
NAA152601AD
NLGN32487XL
POGZ4233AD
PTCHD12667XLR
RELN10383AD und/oder AR
SCN2A6018AD und/oder Dig
SETD54329AD und/oder Impr
SHANK25404AD
SHANK35386AD
TBR12049AD
TRIP125979AD
TSC25424AD und/oder Sus

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)
  • 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 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
  • AD und/oder AR
  • AD und/oder Dig
  • AD und/oder Gen Fusion und oder Impr
  • AD und/oder Impr
  • AD und/oder SMu und/oder Impr
  • AD und/oder SMu und/oder Sus
  • AD und/oder Sus
  • AR
  • Ass
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
F84.0

Bioinformatik und klinische Interpretation

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