©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessBrain malformations, congenital; differential diagnosis

Summary

Short information

A curated panel containing 78 genes for the comprehensive analysis of practically all known connatal brain malformations

ID
HP1100
Number of genes
81 Accredited laboratory test
Examined sequence length
35,9 kb (Core-/Core-canditate-Genes)
219,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ACTB1128NM_001101.5AD
AKT31440NM_005465.7AD
DCX1083NM_178153.3XL
DISP14575NM_032890.5AD
KIF5C2874NM_004522.3AD
MTOR7650NM_004958.4AD
NEDD4L2868NM_015277.6AD
PIK3CA3207NM_006218.4AD
PIK3R22187NM_005027.4AD
PROK2390NM_001126128.2AR
PROKR21155NM_144773.4AD, AR
TUBB2B1338NM_178012.5AD
TUBG11356NM_001070.5AD
WDR624572NM_001083961.2AR
ACTG11128NM_001614.5AD
ADGRG12064NM_005682.7AR
AKT11443NM_005163.2n.k.
ARFGEF25358NM_006420.3AR
ASPM10434NM_018136.5AR
B3GALNT21503NM_152490.5AR
CCND2870NM_001759.4AD
CDK134711NM_003718.5AD
CDON3795NM_016952.5AD
COL3A14401NM_000090.4AD, AR
CRPPA1356NM_001101426.4AR
CSNK2A11545NM_001895.4AD
DAG12688NM_004393.6AR
DHCR71428NM_001360.3AR
DYNC1H113941NM_001376.5AD
EMX2759NM_004098.4AD
FGF8735NM_033163.5AD
FGFR12469NM_023110.3AD
FKRP1488NM_024301.5AR
FKTN1386NM_001079802.2AR
FLNA7920NM_001456.4XL
GLI24761NM_005270.5AD
GPSM22055NM_013296.5AR
KATNB11968NM_005886.3AR
KIF2A2235NM_001098511.3AD
KIFBP1866NM_015634.4AR
LAMB15361NM_002291.3AR
LAMC34728NM_006059.4AR
LARGE12271NM_004737.7AR
MACF116293NM_012090.5AD
NDE11008NM_001143979.2AR
OCLN1569NM_002538.4AR
OSGEP1019NM_017807.4AR
PAFAH1B11233NM_000430.4AD
PEX13852NM_000466.3AR
PEX101041NM_153818.2AR
PEX11B780NM_003846.3AR
PEX121080NM_000286.3AR
PEX131212NM_002618.4AR
PEX141134NM_004565.3AR
PEX161011NM_004813.4AR
PEX19900NM_002857.4AR
PEX2918NM_000318.3AR
PEX26918NM_017929.6AR
PEX31122NM_003630.3AR
PEX51920NM_001131025.2AR
PEX62943NM_000287.4AR
PEX7972NM_000288.4AR
PHGDH1602NM_006623.4AR
POMGNT11983NM_017739.4AR
POMGNT21743NM_032806.6AR
POMT12244NM_007171.4AR
POMT22253NM_013382.7AR
PTCH14344NM_000264.5AD
PTEN1212NM_000314.8AD
RELN10383NM_005045.4AR, AD
RTTN6681NM_173630.4AR
RXYLT11355NM_014254.3AR
SHH1389NM_000193.4AD
SIX3999NM_005413.4AD
SMO2364NM_005631.5AD
TGIF1819NM_173208.3AD
TUBA1A1356NM_006009.4AD
TUBB1335NM_178014.4AD
TUBB2A1338NM_001069.3AD
TUBB31353NM_006086.4AD
ZIC21599NM_007129.5AD

Informations about the disease

Synonyms
  • Alias: Zerebrale Malformationen, kongenital
  • Allelic: Amyotrophic lateral sclerosis 11 (FIG4)
  • 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: Charcot-Marie-Tooth disease, type 4J (FIG4)
  • 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, 12 (POMK)
  • 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: Spastic paraplegia 84, AR (PI4KA)
  • Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
  • Allelic: Symmetric circumferential skin creases, congenital, 1 (TUBB)
  • Adams-Oliver syndrome 2 (DOCK6)
  • Arthrogryposis [panelapp. MONDO:0008779] (KIF21A)
  • Asparagine synthetase deficiency (ASNS)
  • Baraitser-Winter syndrome 1 (ACTB)
  • Baraitser-Winter syndrome 2 (ACTG1)
  • Brain malformations +/- urinary tract defects (NFIA)
  • CHILD syndrome (NSDHL)
  • CK syndrome (NSDHL)
  • Chudley-McCullough syndrome (GPSM2)
  • Congenital heart defects, dysmorphic facial features, intellectual developmental disorder (CDK13)
  • Congenital hyperinsulinism [panelapp] (FOXA2)
  • Congenital hypopituitarism [panelapp] (FOXA2)
  • Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
  • Cortical dysplasia, complex, with other brain malformations 10 (APC2)
  • 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)
  • Ehlers-Danlos syndrome, vascular type (COL3A1)
  • Encephalocraniocutaneous lipomatosis, somatic mosaic (FGFR1)
  • FG syndrome 2 (FLNA)
  • Fetal akinesia (KIF21A)
  • Fibrosis of extraocular muscles, congenital, 1 (KIF21A)
  • Fibrosis of extraocular muscles, congenital, 3B (KIF21A)
  • Focal cortical dysplasia, type II, somatic (MTOR)
  • Frontometaphyseal dysplasia 1 (FLNA)
  • Galloway-Mowat syndrome 3 (OSGEP)
  • Gastrointestinal defects and immunodeficiency syndrome 2 (PI4KA)
  • Gaze palsy, familial horizontal, with progressive scoliosis, 1 (ROBO3)
  • Gaze palsy, familial horizontal, with progressive scoliosis, 2 (DCC)
  • 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 +/- anosmia (FGFR1)
  • Hypogonadotropic hypogonadism 3 +/- anosmia (PROKR2)
  • Hypogonadotropic hypogonadism 4 +/- anosmia (PROK2)
  • Hypogonadotropic hypogonadism 6 +/- anosmia (FGF8)
  • Hypopituitarism, craniofacial + endoderm-derived organ abnormalities [panelapp] (FOXA2)
  • Intellectual developmental disorder, AR 34, with variant lissencephaly (CRADD)
  • Intellectual developmental disorder, AR 74 (APC2)
  • Joubert syndrome 3 (AHI1)
  • 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 2 (ARX)
  • Macrocephaly/autism syndrome (PTEN)
  • Martsolf syndrome 2 (RAB3GAP1)
  • 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 17, primary, AR (CIT)
  • Microcephaly 2, primary, AR, with/-out cortical malformations (WDR62)
  • Microcephaly 3, primary, AR (CDK5RAP2)
  • Microcephaly 5, primary, AR (ASPM)
  • Microcephaly 7, primary, AR (STIL)
  • Microcephaly, epilepsy, and diabetes syndrome (IER3IP1)
  • Microcephaly, progressive, seizures, cerebral + cerebellar atrophy (QARS1)
  • Microcephaly, short stature + polymicrogyria with seizures (RTTN)
  • Microhydranencephaly (NDE1)
  • Mirror movements 1 and/or agenesis of the corpus callosum (DCC)
  • Multinucleated neurons, anhydramnios, renal dyspl., cerebellar hypopl., hydranencephaly (CEP55)
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2 (PIGA)
  • 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, 12 (POMK)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 13 (B4GAT1)
  • 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)
  • Neu-Laxova syndrome 1 (PHGDH)
  • Neurodevelopmental disorder with epilepsy + hemochromatosis )PIGA)
  • Neurodevelopmental disorder with microcephaly, cortical malformations, spasticity (TMX2)
  • Okur-Chung neurodevelopmental syndrome (CSNK2A1)
  • Orofaciodigital syndrome XIV (C2CD3)
  • 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)
  • Phosphoglycerate dehydrogenase deficiency (PHGDH)
  • Polymicrogyria +/- vascular-type EDS (COL3A1)
  • Polymicrogyria, bilateral frontoparietal (ADGRG1)
  • Polymicrogyria, bilateral perisylvian (ADGRG1)
  • Polymicrogyria, bilateral temporooccipital (FIG4)
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia + arthrogryposis (PI4KA)
  • Proteus syndrome, somatic (AKT)
  • Proud syndrome (ARX)
  • Pseudo-TORCH syndrome 1 (OCLN)
  • Pseudo-TORCH syndrome 2 (USP18)
  • Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
  • Rhizomelic chondrodysplasia punctata, type 5 (PEX5)
  • Schizencephaly (EMX2, SHH, SIX3)
  • Severe combined immunodeficiency, microcephaly, growth retardation, radiation sensitive (NHEJ1)
  • Smith-Kingsmore syndrome (MTOR)
  • Smith-Lemli-Opitz syndrome (DHCR7)
  • Subcortical laminal heterotopia, XL (DCX)
  • Subcortical laminar heterotopia (PAFAH1B1)
  • Vici syndrome (EPG5)
  • Warburg micro syndrome 1 (RAB3GAP1)
  • Yunis-Varon syndrome (FIG4)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined