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ErkrankungAutismus II

Zusammenfassung

Kurzinformation

Ein kuratiertes panel mit 25 core candidate Genen sowie insgesamt 86 Genen für die umfassende Untersuchung auf erbliche Autismusspektrum Erkrankungen

ID
AP9998
Anzahl Gene
86 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
130,2 kb (Core-/Basis-Gene)
378,9 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
ADNP3309AD und/oder Impr
ANK211874AD
ARID1B6750AD und/oder SMu und/oder Impr
ASH1L8895AD
ASXL36747AD
CHD25487AD und/oder Impr
CHD87746AD und/oder Impr
CUL32307AD
DSCAM5985AD
DYRK1A2292AD
GRIN2B4455AD
KATNAL21401AD
KMT2A11919AD und/oder Gen Fusion und oder Impr
KMT5B1182AD und/oder Impr
MYT1L3555AD
NAA152601AD
POGZ4233AD
PTEN1212AD und/oder SMu und/oder Sus
RELN10383AD und/oder AR
SCN2A6018AD und/oder Dig
SETD54329AD und/oder Impr
SHANK35386AD
SYNGAP14032AD
TBR12049AD
TRIP125979AD
ANKRD117992AD
BAZ2B6792
  • Keine OMIM-Gs verknüpft
n.k.
BCKDK1098AR
BCL11A2322AD
CACNA1D6546AD und/oder AR
CACNA1H7062AD
CACNA2D33276n.k.
CIC4827AD
CNOT32262AD
CNTN43081Ass
CNTNAP23996AR
CTNND23678n.k.
CUX14518AD und/oder SMu
DDX3X1986XL und/oder SMu
DEAF11698AD und/oder AR
DIP2C4671n.k.
ERBIN4517n.k.
FOXP12034AD
GABRB31422AD
GIGYF23900Sus
GRIA12721AD
GRIP13231AR
ILF21246n.k.
INTS62691n.k.
IRF2BPL2411AD
KAT2B2530n.k.
KDM5B4635AR
KDM6A4206XLD und/oder Impr
KMT2C14736AD
LEO12137n.k.
MAGEL23750AD
MBOAT71200AR und/oder Ass
MECP21461XL
MED136525AD
MED13L6633AD
MET4227AD und/oder AR und/oder Sus
NCKAP13387AD
NLGN32487XL
NRXN14644AD und/oder AR
PHF36120n.k.
PTCHD12667XLR
RANBP173558Ass
RIMS15079AD
SCN9A5934AD und/oder AR
SHANK25404AD
SLC6A11800AD
SMARCC23459AD
SPAST1851AD und/oder Ass
SRCAP9693AD und/oder Impr
SRSF111645n.k.
TAOK24892n.k.
TBL1XR11545AD
TCF205906AD
TNRC6B3090AD
TRIO9294AD
UBN24044n.k.
UPF3B1452XLR
USP152946n.k.
USP73309AD
WAC1944AD
WDFY310581AD

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
  • Autism spectrum disorder, ASD
  • Allelic: Cardiac arrhythmia, ankyrin-B-related (ANK2)
  • Allelic: Cone-rod dystrophy 7 (RIMS1)
  • Allelic: Deafness, AR 97 (MET)
  • Allelic: Episodic ataxia, type 9 (SCN2A)
  • Allelic: Erythermalgia, primary (SCN9A)
  • Allelic: Hyperaldosteronism, familial, type IV (CACNA1H)
  • Allelic: Insensitivity to pain, congenital (SCN9A)
  • Allelic: Long QT syndrome 4 (ANK2)
  • Allelic: Neuropathy, hereditary sensory and autonomic, type IID (SCN9A)
  • Allelic: Paroxysmal extreme pain disorder (SCN9A)
  • Allelic: Pseudohypoaldosteronism, type IIE (CUL3)
  • Allelic: Schizophrenia 15 (SHANK3)
  • Allelic: Seizures, benign familial infantile, 3 (SCN2A)
  • Allelic: Sinoatrial node dysfunction + deafness (CACNA1D)
  • Allelic: Small fiber neuropathy (SCN9A)
  • Allelic: VATER association, macrocephaly, ventriculomegaly; Susceptibility to tumor types (PTEN)
  • Adenylosuccinase deficiency (ADSL)
  • Angelman syndrome (UBE3A)
  • Asperger syndrome susceptibility, XL 1 (NKGN3)
  • Autism susceptibility 17 (SKANK2)
  • Autism susceptibility 18 (CHD8)
  • Autism susceptibility, XL 1 (NLGN3)
  • Autism susceptibility, XL 3 (MECP2)
  • Autism susceptibility, XL 4 (PTCHD1)
  • Bainbridge-Ropers syndrome (ASXL3)
  • Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDK)
  • Coffin-Siris syndrome 1 (ARID1B)
  • Coffin-Siris syndrome 8 (SMARCC2)
  • Corneal dystrophy, Fuchs endothelial, 3 (TCF4)
  • Cortical dysplasia-focal epilepsy syndrome; Pitt-Hopkins like syndrome 1 (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)
  • Dias-Logan syndrome (BCL11A)
  • Down syndrome + congenital heart disease [OMIM] (DSCAM)
  • Encephalopathy, neonatal severe; Angelman syndrome (MECP2)
  • Epilepsy, childhood absence, susceptibility to, 5 (GABRB3)
  • Epilepsy, childhood absence, susceptibility to, 6 (CACNA1H)
  • Epilepsy, familial temporal lobe, 7 (RELN)
  • Epilepsy, idiopathic generalized, susceptibility to, 6 (CACNA1H)
  • Floating-Harbor syndrome (SOCAP)
  • Fragile X syndrome (FMR1_CCG)
  • 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; Mental retardation AD, 28 (ADNP)
  • Impaired intellectual development, distinctive facial features with/-out cardiac defects (MED13L)
  • Intellectual developmental disorder 61 (MED13)
  • Intellectual developmental disorder with autism + speech delay (TBR1)
  • Intellectual developmental disorder with speech delay, autism, dysmorphic facies (CNOT3)
  • Intellectual developmental disorder, AD 44, with microcephaly (TRIO)
  • Intellectual developmental disorder, AD 50, with behavioral abnormalities (NAA15)
  • Intellectual developmental disorder, AD 6, with/-out seizures (GRIN2B)
  • Intellectual developmental disorder, AD 63, with macrocephaly (TRIO)
  • Intellectual developmental disorder, XL syndrome, Snijders Blok type (DDX3X)
  • Intellectual developmental disorder, XL syndromic 13 (MECP2)
  • Intellectual developmental disorder, XL syndromic 14 (UPF3)
  • Intellectual developmental disorder, XL syndromic 14 (UPF3B)
  • Intellectual developmental disorder, XL syndromic, Lubs type (MECP2)
  • KBG syndrome (ANKRD11)
  • Kabuki syndrome 2 (KDM6A)
  • Kleefstra syndrome 2 (KMT2C)
  • Lissencephaly 2, Norman-Roberts type (RELN)
  • Lujan-Fryns syndrome (MED12)
  • Macrocephaly/autism syndrome (PTEN)
  • Mental retardation with language impairment + autistic features, MRLIAF (FOXP1)
  • Mental retardation, AD 23 (SETD5)
  • Mental retardation, AD 26 (AUTS2)
  • Mental retardation, AD 39 (MYT1L)
  • Mental retardation, AD 41 (TBL1XR1)
  • Mental retardation, AD 45 (CIC)
  • Mental retardation, AD 49 (TRIP12)
  • Mental retardation, AD 5 (SYNGAP1)
  • Mental retardation, AD 51 (KMT5B)
  • Mental retardation, AD 52 (ASH1L)
  • Mental retardation, AD 7 (DYRK1A)
  • Mental retardation, AR 57 (MBOAT7)
  • Mental retardation, AR 65 (KDM5B)
  • Microcephaly 18, primary, AD (WDFY3)
  • Myoclonic-atonic epilepsy (SLC6A1)
  • Neurodevelopmental disorder with hypotonia, impaired expressive language +/- seizures (DEAF1)
  • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, seizures (IRF2BPL)
  • Neurodevelopmental disorder with/-out autism or seizures (CUL3)
  • Ohdo syndrome, XL (MED12)
  • Opitz-Kaveggia syndrome (MED12)
  • Parkinson disease 11 (GIGYF2)
  • Phelan-McDermid syndrome - Rett syndrome-like phenotype (SHANK3)
  • Phenylketonuria (PAH)
  • Pierpont syndrome (TBL1XR1)
  • Pitt-Hopkins syndrome (TCF4)
  • Pitt-Hopkins-like syndrome 2 (NRXN1)
  • Primary aldosteronism, seizures, + neurologic abnormalities (CACNA1D)
  • Rett syndrome (MECP2)
  • Rett syndrome, atypical (MECP2)
  • Rett syndrome, preserved speech variant (MECP2)
  • Schaaf-Yang syndrome (MAGEL2)
  • Schizophrenia 15 (SHANK3)
  • Schizophrenia, susceptibility to, 17 (NRXN1)
  • Smith-Lemli-Opitz syndrome (DHCR7)
  • Spastic paraplegia 4, AD (SPAST)
  • Syndromic intellectual disability (AUTS2)
  • Tourette syndrome; Epileptic encephalopathy, childhood-onset (CHD2)
  • Tuberous sclerosis-1 + -2 (TSC1, TSC2)
  • Vulto-van Silfout-de Vries syndrome (DEAF1)
  • White-Sutton syndrome (POGZ)
  • Wiedemann-Steiner syndrome (KMT2A)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Sus
  • AD und/oder Ass
  • AD und/oder Dig
  • AD und/oder Gen Fusion und oder Impr
  • AD und/oder Impr
  • AD und/oder SMu
  • AD und/oder SMu und/oder Impr
  • AD und/oder SMu und/oder Sus
  • AR
  • AR und/oder Ass
  • Ass
  • Sus
  • XL
  • XL und/oder SMu
  • XLD und/oder Impr
  • XLR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
F84.0

Bioinformatik und klinische Interpretation

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