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)
212,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
ACTB | 1128 | AD | |
ACTG1 | 1128 | AD | |
ADGRG1 | 2064 | AR | |
AKT1 | 1443 | AD und/oder SMu und/oder Sus | |
AKT3 | 1440 | AD | |
ARFGEF2 | 5358 | AR | |
ASPM | 10434 | AR | |
B3GALNT2 | 1503 | AR | |
CCND2 | 870 | AD | |
CDK13 | 4711 | AD | |
CDON | 3795 | AD | |
CRPPA | 1356 | AR | |
CSNK2A1 | 1545 | AD | |
DAG1 | 2688 | AR | |
DCX | 1083 | XL | |
DHCR7 | 1428 | AR | |
DISP1 | 4575 | AD und/oder Dig | |
DYNC1H1 | 13941 | AD | |
EMX2 | 759 | AD | |
FGF8 | 735 | AD | |
FGFR1 | 2469 | AD und/oder Dig | |
FKRP | 1488 | AR | |
FKTN | 1386 | AR | |
FLNA | 7920 | XL | |
GLI2 | 4761 | AD | |
GPSM2 | 2055 | AR | |
KATNB1 | 1968 | AR | |
KIF2A | 2235 | AD | |
KIF5C | 2874 | AD | |
KIFBP | 1866 | AR | |
LAMB1 | 5361 | AR | |
LAMC3 | 4728 | AR | |
LARGE1 | 2271 | AR | |
MACF1 | 16293 | AD | |
MTOR | 7650 | AD | |
NDE1 | 1008 | AR | |
NEDD4L | 2868 | AD | |
OCLN | 1569 | AR | |
OSGEP | 1019 | AR | |
PAFAH1B1 | 1233 | AD | |
PEX1 | 3852 | AR | |
PEX10 | 1041 | AR | |
PEX11B | 780 | AR | |
PEX12 | 1080 | AR | |
PEX13 | 1212 | AR | |
PEX14 | 1134 | AR | |
PEX16 | 1011 | AR | |
PEX19 | 900 | AR | |
PEX2 | 918 | AR | |
PEX26 | 918 | AR | |
PEX3 | 1122 | AR | |
PEX5 | 1920 | AR | |
PEX6 | 2943 | AD und/oder AR | |
PEX7 | 972 | AR | |
PIK3CA | 3207 | AD und/oder SMu und/oder Sus | |
PIK3R2 | 2187 | AD | |
POMGNT1 | 1983 | AR | |
POMGNT2 | 1743 | AR | |
POMT1 | 2244 | AR | |
POMT2 | 2253 | AR | |
PTCH1 | 4344 | AD und/oder SMu | |
PTEN | 1212 | AD und/oder SMu und/oder Sus | |
RELN | 10383 | AD und/oder AR | |
RTTN | 6681 | AR | |
RXYLT1 | 1355 | AR | |
SHH | 1389 | AD und/oder Dig | |
SIX3 | 999 | AD und/oder AR | |
SMO | 2364 | AD | |
TGIF1 | 819 | AD | |
TUBA1A | 1356 | AD | |
TUBB | 1335 | AD | |
TUBB2A | 1338 | AD | |
TUBB2B | 1338 | AD | |
TUBB3 | 1353 | AD | |
TUBG1 | 1356 | AD | |
WDR62 | 4572 | AR | |
ZIC2 | 1599 | AD |
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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