Interdisziplinäre KompetenzMolekulare Diagnostik
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ErkrankungHirnfehlbildungen, kongenital; Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein kuratiertes panel mit 78 Genen zur umfassenden Untersuchung von praktisch allen bekannten genetisch bedingten angeborenen Hirnfehlbildungen

ID
HP1100
Anzahl Gene
77 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Basis-Gene)
212,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ACTB1128AD
ACTG11128AD
ADGRG12064AR
AKT11443AD und/oder SMu und/oder Sus
AKT31440AD
ARFGEF25358AR
ASPM10434AR
B3GALNT21503AR
CCND2870AD
CDK134711AD
CDON3795AD
CRPPA1356AR
CSNK2A11545AD
DAG12688AR
DCX1083XL
DHCR71428AR
DISP14575AD und/oder Dig
DYNC1H113941AD
EMX2759AD
FGF8735AD
FGFR12469AD und/oder Dig
FKRP1488AR
FKTN1386AR
FLNA7920XL
GLI24761AD
GPSM22055AR
KATNB11968AR
KIF2A2235AD
KIF5C2874AD
KIFBP1866AR
LAMB15361AR
LAMC34728AR
LARGE12271AR
MACF116293AD
MTOR7650AD
NDE11008AR
NEDD4L2868AD
OCLN1569AR
OSGEP1019AR
PAFAH1B11233AD
PEX13852AR
PEX101041AR
PEX11B780AR
PEX121080AR
PEX131212AR
PEX141134AR
PEX161011AR
PEX19900AR
PEX2918AR
PEX26918AR
PEX31122AR
PEX51920AR
PEX62943AD und/oder AR
PEX7972AR
PIK3CA3207AD und/oder SMu und/oder Sus
PIK3R22187AD
POMGNT11983AR
POMGNT21743AR
POMT12244AR
POMT22253AR
PTCH14344AD und/oder SMu
PTEN1212AD und/oder SMu und/oder Sus
RELN10383AD und/oder AR
RTTN6681AR
RXYLT11355AR
SHH1389AD und/oder Dig
SIX3999AD und/oder AR
SMO2364AD
TGIF1819AD
TUBA1A1356AD
TUBB1335AD
TUBB2A1338AD
TUBB2B1338AD
TUBB31353AD
TUBG11356AD
WDR624572AR
ZIC21599AD

Infos zur Erkrankung

Synonyme
  • Alias: Zerebrale Malformationen, kongenital
  • Allelic: Basal cell carcinoma, somatic (PTCH1)
  • Allelic: Basal cell nevus syndrome (PTCH1)
  • Allelic: CLAPO syndrome, somatic (PIK3CA)
  • Allelic: CLOVE syndrome, somatic (PIK3CA)
  • Allelic: Cardiac valvular dysplasia, XL (FLNA)
  • Allelic: Cardiomyopathy, dilated, 1X (FKTN)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
  • Allelic: Colorectal cancer, somatic (PIK3CA)
  • Allelic: Congenital short bowel syndrome (FLNA)
  • Allelic: Cowden syndrome 1 (PTEN)
  • Allelic: Cowden syndrome 5 (PIK3CA)
  • Allelic: Cowden syndrome 6 (AKT)
  • Allelic: Curry-Jones syndrome, somatic mosaic (SMO)
  • Allelic: Deafness, AD 20/26 (ACTG1)
  • Allelic: Dystonia, juvenile-onset (ACTB)
  • Allelic: Epilepsy, familial temporal lobe, 7 (RELN)
  • Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
  • Allelic: Glioma susceptibility 2 (PTEN)
  • Allelic: Heimler syndrome 1 (PEX1)
  • Allelic: Heimler syndrome 2 (PEX6)
  • Allelic: Lhermitte-Duclos syndrome (PTEN)
  • Allelic: Melnick-Needles syndrome (FLNA)
  • Allelic: Meningioma (PTEN)
  • Allelic: Microphthalmia with coloboma 5 (SHH)
  • Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 1 (POMT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 3 (POMGNT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 4 (FKTN)
  • Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 5 (FKRP)
  • Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 7 (ISPD)
  • Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 8 (POMGNT2)
  • Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 9 (DAG1)
  • Allelic: Retinitis pigmentosa 76 (POMGNT1)
  • Allelic: Single median maxillary central incisor (SHH)
  • Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
  • Allelic: Symmetric circumferential skin creases, congenital, 1 (TUBB)
  • Baraitser-Winter syndrome 1 (ACTB)
  • Baraitser-Winter syndrome 2 (ACTG1)
  • Chudley-McCullough syndrome (GPSM2)
  • Congenital heart defects, dysmorphic facial features, intellectual developmental disorder (CDK13)
  • Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
  • Cortical dysplasia, complex, with other brain malformations 2 (KIF5C)
  • Cortical dysplasia, complex, with other brain malformations 3 (KIF2A)
  • Cortical dysplasia, complex, with other brain malformations 4 (TUBG1)
  • Cortical dysplasia, complex, with other brain malformations 5 (TUBB2A)
  • Cortical dysplasia, complex, with other brain malformations 6 (TUBB)
  • Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
  • Cortical malformations, occipital (LAMC3)
  • Culler-Jones syndrome (GLI2)
  • Developmental + epileptic encephalopathy 1 (ARX)
  • Encephalocraniocutaneous lipomatosis, somatic mosaic (FGFR1)
  • FG syndrome 2 (FLNA)
  • Focal cortical dysplasia, type II, somatic (MTOR)
  • Frontometaphyseal dysplasia 1 (FLNA)
  • Galloway-Mowat syndrome 3 (OSGEP)
  • Goldberg-Shprintzen megacolon syndrome (KIF1BP)
  • Hartsfield syndrome (FGFR1)
  • Heterotopia, periventricular, 1 (FLNA)
  • Holoprosencephaly (DISP1, FGF8)
  • Holoprosencephaly 11 (CDON)
  • Holoprosencephaly 2 (SIX3)
  • Holoprosencephaly 3 (SHH)
  • Holoprosencephaly 4 (TGIF1)
  • Holoprosencephaly 5 (ZIC2)
  • Holoprosencephaly 7 (PTCH1)
  • Holoprosencephaly 9 (GLI2)
  • Hydranencephaly with abnormal genitalia (ARX)
  • Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
  • Hypogonadotropic hypogonadism 6 with/-out anosmia (FGF8)
  • Lissencephaly 1 (PAFAH1B1)
  • Lissencephaly 2 [Norman-Roberts type] (RELN)
  • Lissencephaly 3 (TUBA1A)
  • Lissencephaly 4 [with microcephaly] (NDE1)
  • Lissencephaly 5 (LAMB1)
  • Lissencephaly 6, with microcephaly (KATNB1)
  • Lissencephaly 9 with complex brainstem malformation (MACF1)
  • Lissencephaly, XL (DCX)
  • Lissencephaly, XL 2 (ARX)
  • Macrocephaly/autism syndrome (PTEN)
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic (PIK3A)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (PIK3R2)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (AKT3)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (CCND2)
  • Mental retardation, AD 13 (DYNC1H1)
  • Mental retardation, XL 29 + others (ARX)
  • Microcephaly 2, primary, AR, with/-out cortical malformations (WDR62)
  • Microcephaly 5, primary, AR (ASPM)
  • Microcephaly, short stature + polymicrogyria with seizures (RTTN)
  • Microhydranencephaly (NDE1)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 1 (POMT1)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 10 (TMEM5)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 11 (B3GALNT2)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 4 (FKTN)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 6 (LARGE1)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 7 (ISPD)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 8 (POMGNT2)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 9 (DAG1)
  • Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 1 (POMT1)
  • Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 6 (LARGE1)
  • Muscular dystrophy-dystroglycanopathy, cong. with/-out mental retardation, type B, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy, cong. without mental retardation, type B, 4 (FKTN)
  • Okur-Chung neurodevelopmental syndrome (CSNK2A1)
  • Pallister-Hall-like syndrome (SMO)
  • Partington syndrome (ARX)
  • Periventricular heterotopia with microcephaly (ARFGEF2)
  • Periventricular nodular heterotopia 7 (NEDD4L)
  • Peroxisome biogenesis disorder 10A [Zellweger] (PEX3)
  • Peroxisome biogenesis disorder 10B (PEX3)
  • Peroxisome biogenesis disorder 11A [Zellweger] (PEX13)
  • Peroxisome biogenesis disorder 11B (PEX13)
  • Peroxisome biogenesis disorder 12A [Zellweger] (PEX19)
  • Peroxisome biogenesis disorder 13A [Zellweger] (PEX14)
  • Peroxisome biogenesis disorder 14B (PEX11B)
  • Peroxisome biogenesis disorder 1A [Zellweger] (PEX1)
  • Peroxisome biogenesis disorder 1B [NALD/IRD] (PEX1)
  • Peroxisome biogenesis disorder 2A [Zellweger] (PEX5)
  • Peroxisome biogenesis disorder 2B (PEX5)
  • Peroxisome biogenesis disorder 3A [Zellweger] (PEX12)
  • Peroxisome biogenesis disorder 3B (PEX12)
  • Peroxisome biogenesis disorder 4A [Zellweger] (PEX6)
  • Peroxisome biogenesis disorder 4B (PEX6)
  • Peroxisome biogenesis disorder 5A [Zellweger] (PEX2)
  • Peroxisome biogenesis disorder 5B (PEX2)
  • Peroxisome biogenesis disorder 6A [Zellweger] (PEX10)
  • Peroxisome biogenesis disorder 6B (PEX10)
  • Peroxisome biogenesis disorder 7A [Zellweger] (PEX26)
  • Peroxisome biogenesis disorder 7B (PEX26)
  • Peroxisome biogenesis disorder 8A [Zellweger] (PEX16)
  • Peroxisome biogenesis disorder 8B (PEX16)
  • Peroxisome biogenesis disorder 9B (PEX7)
  • Polymicrogyria, bilateral frontoparietal (ADGRG1)
  • Polymicrogyria, bilateral perisylvian (ADGRG1)
  • Proteus syndrome, somatic (AKT)
  • Proud syndrome (ARX)
  • Pseudo-TORCH syndrome 1 (OCLN)
  • Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
  • Rhizomelic chondrodysplasia punctata, type 5 (PEX5)
  • Schizencephaly (EMX2, SHH, SIX3)
  • Smith-Kingsmore syndrome (MTOR)
  • Smith-Lemli-Opitz syndrome (DHCR7)
  • Subcortical laminal heterotopia, XL (DCX)
  • Subcortical laminar heterotopia (PAFAH1B1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder Dig
  • AD und/oder SMu
  • AD und/oder SMu und/oder Sus
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q04.8

Bioinformatik und klinische Interpretation

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