Genomics Precision Diagnostic > Neurology Precision Panel > Neuronal Migration Disorders Precision Panel

Neuronal Migration Disorders Precision Panel

Neuronal migration disorders are a heterogeneous group of disorders of the nervous system development where there is abnormal migration of neurons in the developing brain. Examples of diseases in this category include lissencephaly, schinzencephaly, porencephaly, agyria, microgyria, polymicrogyria, pachygyria, etc.

Overview

Neuronal migration disorders are a heterogeneous group of disorders of the nervous system development where there is abnormal migration of neurons in the developing brain. Examples of diseases in this category include lissencephaly, schinzencephaly, porencephaly, agyria, microgyria, polymicrogyria, pachygyria, etc. These disorders share mutations in migration genes that code for proteins involved in the placement of neuronal structures within the organism. Perturbation in neuronal migration result in abnormal lamination, neuronal differentiation defects, abnormal cell morphology and circuit formation, particularly in the cerebral cortex. Ultimately, the result is a disorganized excitatory and inhibitory activity of the brain. More than 25 syndromes resulting from abnormal migration have been identified. Among them exists different patterns of inheritance such as autosomal dominant, recessive and X-linked.
The Igenomix Neuronal Migration Disorders Precision Panel  can serve as an accurate and directed diagnostic tool ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Neuronal Migration Disorders Precision Panel is indicated in patients with a clinical suspicion or diagnosis presenting with or without the following manifestations:
- Poor muscle tone
- Poor motor function
- Seizures
- Developmental delay
- Mental retardation
- Failure to thrive
- Feeding difficulties
- Swelling in the extremities
- Small sized head

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular diagnosis for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment with a multidisciplinary team in the form of medical care antiepileptic medication and special or supplemental education with physical, occupational and speech therapies.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	%GENE COVERAGE (20X)	HGMD**
*ACTB*	Baraitser-Winter Syndrome, Dystonia, Becker Nevus Syndrome, Deafness	AD	100	40 of 40
*ACTG1*	Baraitser-Winter Syndrome, Deafness	AD	98.59	55 of 55
*ADGRG1*	Polymicrogyria	AR	100	–
*AKT3*	Megalencephaly, Polymicrogyria, Polydactyly, Hhydrocephalus	AD	99.9	9 of 11
*ARF1*	Nodular Heterotopia	AD	100	3 of 3
*ARFGEF2*	Nodular Heterotopia, Microcephaly	AR	100	15 of 15
*ARX*	Corpus Callosum, Abnormal Genitalia, Epileptic Encephalopathy, Lissencephaly, Mental Retardation, Partington Syndrome, West Syndrome	X,XR,G	81.92	–
*ASPM*	Microcephaly	AR	99.74	221 of 222
*ATP6V0A2*	Cutis Laxa, Wrinkly Skin Syndrome	AR	99.99	55 of 55
*B3GALNT2*	Muscular Dystrophy, Dystroglycanopathy, Intellectual Disability, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome	AR	97.14	17 of 17
*B4GAT1*	Muscular Dystrophy, Dystroglycanopathy, Walker-Warburg Syndrome	AR	–	–
*CCND2*	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus	AD	99.97	9 of 9
*CDK5*	Lissencephaly, Cerebellar Hypoplasia	AR	100	5 of 5
*CIT*	Microcephaly	AR	99.98	17 of 17
*COL4A1*	Angiopathy, Nephropathy, Aneurysms, Microangiopathy, Leukoencephalopathy, Porencephaly, Hanac Syndrome, Walker-Warburg Syndrome	AD	99.99	173 of 173
*COL4A2*	Porencephaly	AD	99.93	28 of 28
*CRADD*	Mental Retardation, Lissencephaly, Intellectual Disability	AR	99.62	6 of 7
*CRPPA*	Limb-Girdle Muscular Dystrophy, Dystroglycanopathy, Walker-Warburg Syndrome	AR	97.69	–
*CSNK2A1*	Okur-Chung Neurodevelopmental Syndrome	AD	99.95	23 of 23
*CTNNA2*	Cortical Dysplasia	AR	99.95	8 of 8
*CTU2*	Microcephaly, Facial Dysmorphism, Renal Agenesis	AR	99.93	6 of 6
*CUL4B*	Mental Retardation, Short Stature	X,XR,G	99.77	–
*DAG1*	Limb Girdle Muscular Dystrophy, Dystroglycanopathy, Muscle-Eye-Brain Disease, Leucodystrophy, Walker-Warburg Syndrome	AR	99.98	9 of 9
*DCHS1*	Mitral Valve Prolapse, Van Maldergem Syndrome, Cerebrofacioarticular Syndrome	AD,AR	99.69	30 of 30
*DCX*	Lissencephaly	X,G	100	–
*DDX3X*	Intellectual Developmental Disorder	X,XR,XD,G	99.03	–
*DYNC1H1*	Charcot-Marie- Tooth Disease, Mental Retardation, Spinal Muscular Atrophy	AD	100	104 of 104
*EMX2*	Schizencephaly	–	100	5 of 5
*ERMARD*	Periventricular Nodular Heterotopia, 6q Terminal Deletion Syndrome	AD	99.94	1 of 1
*FAT4*	Van Maldergem Syndrome, Cerebrofacioarticular Syndrome, Hennekam Syndrome	AR	99.8	41 of 41
FH	Fumarase Deficiency, Leiomyoma, Pheochromocytoma, Paraganglioma	AD,AR	100	229 of 232
*FKRP*	Limb Girdle Muscular Dystrophy, Dystroglycanopathy, Intellectual Disability, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome	AR	99.9	157 of 157
*FKTN*	Cardiomyopathy, Limb Girdle Muscular Dystrophy, Muscle- Eye-Brain Disease, Walker-Warburg Syndrome	AR	98	54 of 56
*FLNA*	Dysplasia, Fg Syndrome, Heterotopia, Intestinal Pseudoobstruction, Melnick-Needles Syndrome, Otopalatodigital Syndrome, Short Bowel Syndrome, Ehlers- Danlos Syndrome	X,XR,XD,G	100	–
*FLVCR2*	Vasculopathy, Hydranencephaly, Hydrocephaly	AR	99.97	16 of 16
*GMPPB*	Limb Girdle Muscular Dystrophy, Dystroglycanopathy, Intellectual Disability, Myasthenic Syndromes, Glycosylation Defect, Muscle-Eye-Brain Disease	AR	99.95	53 of 53
*GPSM2*	Chudley-Mccullough Syndrome	AR	100	13 of 13
*GRIN1*	Neurodevelopmental Disorder, Hyperkinetic Movements, Seizures	AD,AR	100	43 of 43
*GRIN2B*	Epileptic Encephalopathy, Mental Retardation, West Syndrome	AD	99.99	108 of 108
*KATNB1*	Lissencephaly, Microcephaly	AR	100	10 of 10
*KIF2A*	Cortical Dysplasia	AD	99.91	7 of 7
*KIF5C*	Cortical Dysplasia	AD	99.96	7 of 7
*KIF7*	Acrocallosal Syndrome, Hydrolethalus Syndrome, Macrocephaly, Multiple Epiphyseal Dysplasia, Orofaciodigital Syndrome	AR	94.91	47 of 50
*KIFBP*	Goldberg- Shprintzen Syndrome	AR	99.27	–
*L1CAM*	Corpus Callosum, Masa Syndrome, Hydrocephalus, Stenosis Of The Aqueduct Of Sylvius	X,XR,G	100	–
*LAMA2*	Limb Girdle Muscular Dystrophy	AR	100	363 of 377
*LAMB1*	Lissencephaly	AR	99.97	8 of 9
*LAMC3*	Cortical Malformations	AR	98.72	22 of 22
*LARGE1*	Limb Girdle Muscular Dystrophy, Intellectual Disability, Muscle-Eye- Brain Disease, Walker- Warburg Syndrome	AR	100	–
*MACF1*	Lissencephaly, Brainstem Malformation	AD	99.94	18 of 18
*MED12*	Lujan-Fryns Syndrome, Ohdo Syndrome, Opitz-Kaveggia Syndrome, Blepharophimosis– Intellectual Disability Syndrome, Fg Syndrome	X,XR,G	100	–
*MEF2C*	Mental Retardation, Stereotypic Movements, Epilepsy, Cerebral Malformations, 5q14.3 Microdeletion Syndrome	AD	99.91	43 of 46
*MPDZ*	Hydrocephalus	AR	99.44	58 of 58
*MTOR*	Dysplasia Of Taylor, Smith-Kingsmore Syndrome, Macrocephaly, Intellectual Disability, Neurodevelopmental Disorder, Small Thorax Syndrome	AD	99.98	39 of 39
*NDE1*	Lissencephaly , Hydranencephaly	AR	86.55	12 of 13
*NEDD4L*	Periventricular Nodular Heterotopia	AD	97.61	10 of 10
*NSDHL*	Ck Syndrome, Congenital Hemidysplasia, Ichthyosiform Erythroderma	X,XR,XD,G	100	–
*OCLN*	Pseudo-Torch Syndrome, Intrauterine Infection- Like Syndrome	AR	86.89	15 of 17
*PAFAH1B1*	Lissencephaly, 17p13.3 Microduplication Syndrome, Miller-Dieker Syndrome	AD	99.95	90 of 92
*PHGDH*	Neu-Laxova Syndrome, 3-Phosphoglycerate Dehydrogenase Deficiency	AR	100	26 of 26
*PI4KA*	Polymicrogyria, Cerebellar Hypoplasia, Arthrogryposis	AR	99.76	4 of 4
*PIK3CA*	Overgrowth, Vascular Malformations, Epidermal Nevus, Cowden Syndrome, Keratosis, Macrocephaly, Megalodactyly, Hemihyperplasia, Lynch Syndrome, Megalencephaly, Polymicrogyria Syndrome, Multiple Cancer Types	AD	99.58	54 of 58
*PIK3R2*	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus	AD	90.81	7 of 7
*POMGNT1*	Limb Girdle Muscular Dystrophy, Dystroglycanopathy, Retinitis Pigmentosa, Muscle-Eye-Brain Disease, Retinitis Pigmentosa, Walker-Warburg Syndrome	AR	99.91	82 of 83
*POMGNT2*	Limb Girdle Muscular Dystrophy, Dystroglycanopathy, Walker-Warburg Syndrome	AR	100	10 of 10
*POMK*	Limb Girdle Muscular Dystrophy, Dystroglycanopathy, Walker-Warburg Syndrome	AR	99.99	8 of 8
*POMT1*	Limb Girdle Muscular Dystrophy, Dystroglycanopathy, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome	AR	100	105 of 105
*POMT2*	Limb Girdle Muscular Dystrophy, Dystroglycanopathy, Intellectual Disability, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome	AR	100	74 of 74
*PQBP1*	Renpenning Syndrome, Hamel Cerebro-Palato- Cardiac Syndrome, Intellectual Disability, Sutherland-Haan Type	X,XR,G	99.99	–
*PRUNE1*	Neurodevelopmental Disorder, Microcephaly, Hypotonia	AR	99.99	–
*RAB18*	Warburg Micro Syndrome	AR	100	4 of 4
*RAB3GAP1*	Warburg Micro Syndrome, Cataract, Intellectual Disability, Hypogonadism	AR	99.94	70 of 70
*RAB3GAP2*	Martsolf Syndrome, Warburg Micro Syndrome, Spastic Paraplegia, Cataract, Intellectual Disability, Hypogonadism	AR	100	17 of 17
*RAC3*	Neurodevelopmental Disorder, Structural Brain Anomalies	AD	94.13	5 of 5
*RELN*	Epilepsy, Lissencephaly	AD,AR	100	70 of 70
*RTTN*	Microcephaly, Polymicrogyria, Seizures, Dwarfism	AR	99.94	28 of 29
*RXYLT1*	Limb Girdle Muscular Dystrophy, Dystroglycanopathy, Walker-Warburg Syndrome	AR	99.46	–
*SEPSECS*	Pontocerebellar Hypoplasia	AR	99.59	15 of 15
*SHH*	Holoprosencephaly, Microphthalmia, Schizencephaly, Hypoplastic Tibiae, Postaxial Polydactyly, Radial Hemimelia, Syndactyly	AD	99.48	161 of 184
*SIX3*	Holoprosencephaly, Schizencephaly	AD	99.79	79 of 80
*SRD5A3*	Congenital Disorder Of Glycosylation, Kahrizi Syndrome	AR	100	15 of 15
*SRPX2*	Rolandic Epilepsy, Mental Retardation, Polymicrogyria	AD	100	–
*TBC1D20*	Warburg Micro Syndrome	AR	99.94	6 of 6
*TMTC3*	Lissencephaly, Nodular Heterotopia	AR	99.04	10 of 10
*TUBA1A*	Lissencephaly	AD	100	95 of 95
*TUBA8*	Polymicrogyria, Optic Nerve Hypoplasia	AR	80.97	5 of 5
*TUBB*	Cortical Dysplasia, Skin Creases	AD	100	8 of 8
*TUBB2A*	Cortical Dysplasia	AD	81.71	5 of 7
*TUBB2B*	Cortical Dysplasia, Dysequilibrium Syndrome, Polymicrogyria	AD	84.28	29 of 38
*TUBB3*	Cortical Dysplasia And Dysgenesis, Fibrosis Of Extraocular Muscles, Pontocerebellar Hypoplasia	AD	99.96	30 of 30
*TUBB4A*	Dystonia Musculorum Deformans, Leukodystrophy, Dystonia	AD	89.81	44 of 44
*TUBG1*	Cortical Dysplasia	AD	99.94	10 of 10
*VLDLR*	Cerebellar Hypoplasia, Mental Retardation, Dysequilibrium Syndrome	AR	100	20 of 20
*WDR62*	Microcephaly, Cortical Malformations	AR	100	60 of 61
*WDR81*	Cerebellar Hypoplasia, Mental Retardation, Hydrocephalus, Dysequilibrium Syndrome	AR	99.94	19 of 19
*YWHAE*	17p13.3 Microduplication Syndrome, Miller- Dieker Syndrome	–	98.99	0 of 1

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

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Neuronal Migration Disorders Precision Panel

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

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