Klinische FragestellungAutismus, Suszeptibilität

1. array, 2. FRAX, 3. Gene: MECP2, PTEN empfohlen ACMG guidelines
   NGS + [Sanger]

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

• 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)