Genomics Precision Diagnostic > Prenatal > Lissencephaly Precision Panel

Panel de precisión de lisencefalia

La lisencefalia, también conocida como cerebro liso, es una malformación de la corteza cerebral asociada con una migración neuronal anormal y el desarrollo de circunvoluciones o circunvoluciones cerebrales. Puede haber circunvoluciones ausentes (agyria) o circunvoluciones anormalmente anchas (paquigiria) junto con una corteza anormalmente gruesa y mal organizada, heterotopía neuronal difusa, ventrículos dismórficos y, a menudo, falta de desarrollo del cuerpo calloso.

Descripción general

Indicación

Utilidad clínica

Genes y enfermedades

Metodología

Referencias

Descripción general

La lisencefalia, también conocida como cerebro liso, es una malformación de la corteza cerebral asociada con una migración neuronal anormal y el desarrollo de circunvoluciones o circunvoluciones cerebrales. Puede haber circunvoluciones ausentes (agyria) o circunvoluciones anormalmente anchas (paquigiria) junto con una corteza anormalmente gruesa y mal organizada, heterotopía neuronal difusa, ventrículos dismórficos y, a menudo, falta de desarrollo del cuerpo calloso. La lisencefalia se ha asociado con varios síndromes, por lo que los factores genéticos juegan un papel importante en su etiología. Es una causa importante de morbilidad neurológica en los niños de todo el mundo, responsable de muchos casos de retraso mental, parálisis cerebral y epilepsia. En su mayoría se hereda con un patrón autosómico recesivo, aunque hay formas que se heredan de manera autosómica dominante y ligada al cromosoma X.
El panel de precisión de lisencefalia de Igenomix se puede utilizar para realizar un diagnóstico directo y preciso que, en última instancia, conduce a un mejor manejo y pronóstico de la enfermedad. Proporciona un análisis completo de los genes involucrados en esta enfermedad utilizando secuenciación de próxima generación (NGS) para comprender completamente el espectro de genes relevantes involucrados.

Indicación

El panel de precisión de lisencefalia de Igenomix está indicado para aquellos pacientes con hallazgos en las imágenes de la cabeza (ecografía, tomografía computarizada (TC), resonancia magnética (RM)) sugestivos de lisencefalia o con las siguientes manifestaciones:
- Apariencia facial inusual
- Dificultad para tragar
- Fracaso para prosperar
- Espasmos musculares
- Convulsiones
- Retraso psicomotor severo
- Manos, pies o dedos de los pies deformados
- Microcefalia (cabeza pequeña)

Utilidad clínica

La utilidad clínica de este panel es:

La confirmación genética y molecular para un diagnóstico clínico preciso de un paciente sintomático.
Inicio precoz del tratamiento sintomático y de apoyo en forma de derivación precoz a un centro de alto riesgo, asesoramiento multidisciplinar y estrecha coordinación entre pediatría, neurólogos y otros especialistas.
Evaluación de riesgo de familiares asintomáticos según el modo de herencia.
Mejora de la delimitación de la correlación genotipo-fenotipo.
Identificación de la base genética de estos trastornos asociados para una mejor comprensión de los mecanismos del desarrollo cerebral.

Genes y enfermedades

Ver todos los genes y enfermedades

Genes & Diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ACTB*	Baraitser-Winter Syndrome, Juvenile-Onset Dystonia, Developmental Malformations- Deafness-Dystonia Syndrome	AD	100	40 of 40
*ACTG1*	Baraitser-Winter Syndrome	AD	98.59	55 of 55
*ADAMTS3*	Hennekam Lymphangiectasia- Lymphedema Syndrome Hennekam Syndrome	AR	99.97	4 of 4
*ADGRG1*	Bilateral Frontoparietal Polymicrogyria	AR	100	NA of NA
*ANKLE2*	Autosomal Recessive Primary Microcephaly	AR	96.08	4 of 4
*APC2*	Complex Cortical Dysplasia With Other Brain Malformations, Sotos Syndrome	AR	94.97	11 of 11
*ARHGAP31*	Adams-Oliver Syndrome	AD	100	6 of 6
*ARX*	Agenesis of Corpus Callosum With Abnormal Genitalia, Early Infantile Epileptic Encephalopathy, Lissencephaly, X-linked Mental Retardation With Or Without Seizures, Partington Syndrome, West Syndrome, X-linked Spasticity- Intellectual Disability-Epilepsy Syndrome	X,XR,G	81.92	NA of NA
*ASPM*	Autosomal Recessive Primary Microcephaly	AR	99.74	221 of 222
*ATP6V0A2*	Autosomal Recessive Cutis Laxa Type II, Wrinkly Skin Syndrome	AR	99.99	55 of 55
*ATP6V1A*	Autosomal Recessive Cutis Laxa Type II, Undetermined Early-Onset Epileptic Encephalopathy	AD,AR	99.98	9 of 9
*ATP6V1E1*	Autosomal Recessive Cutis Laxa Type II	AR	100	2 of 2
*ATR*	Familial Cutaneous Telangiectasia And Cancer Syndrome, Seckel Syndrome	AD,AR	99.98	39 of 40
*B3GALNT2*	Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A, Autosomal Recessive Non- Syndromic Intellectual Disability , Muscle- Eye-Brain Disease, Walker-Warburg Syndrome	AR	97.14	17 of 17
*B4GAT1*	Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A, Walker- Warburg Syndrome	AR	na	na
*CASK*	Nonspherocytic Hemolytic Anemia Due To G6PD Deficiency, X-linked Mental Retardation With Or Without Nystagmus, Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia, Early Infantile Epileptic Encephalopathy	X,XR,XD,G	99.98	NA of NA
*CCBE1*	Hennekam Lymphangiectasia- Lymphedema Syndrome, Hennekam Syndrome	AR	100	16 of 16
*CCDC88A*	Peho-like Syndrome	AR	91.9	3 of 4
*CDK5*	Lissencephaly With Cerebellar Hypoplasia	AR	100	5 of 5
*CDK5RAP2*	Autosomal Recessive Primary Microcephaly	AR	100	32 of 32
*CDK6*	Autosomal Recessive Primary Microcephaly	AR	100	1 of 1
*CDKL5*	Early Epileptic Epileptic Encephalopathy, Atypical Rett Syndrome, West Syndrome	X,XD,G	99.92	NA of NA
*CENPJ*	Autosomal Recessive Primary Microcephaly, Seckel Syndrome	AR	99.97	13 of 13
*CEP135*	Autosomal Recessive Primary Microcephaly	AR	99.48	7 of 8
*CEP152*	Autosomal Recessive Primary Microcephaly, Seckel Syndrome	AR	97.73	21 of 24
*CEP63*	Autosomal Recessive Primary Microcephaly, Seckel Sydrome	AR	100	3 of 3
*CEP85L*	Lissencephaly	AD	99.73	1 of 1
*CIT*	Autosomal Recessive Primary Microcephaly	AR	99.98	17 of 17
*COL4A1*	Hereditary Angiopathy With Nephropathy, Aneurysms, And Muscle Cramps, Autosomal Dominant Pontine Microangiopathy And Leukoenceph- alopathy, Hanac Syndrome, Walker-Warburg Syndrome	AD	99.99	173 of 173
*COPB2*	Autosomal Recessive Primary Microcephaly	AR	99.64	4 of 4
*CPT2*	Carnitine Palmitoyltransferase II Deficiency	AD,AR	99.99	116 of 116
*CRADD*	Autosomal Recessive Mental Retardation With Variant Lissencephaly	AR	99.62	6 of 7
*CRPPA*	Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A and C, Congenital Muscular Dystrophy Without Intellectual Disability, ISPD-related Limb-Girdle Muscular Dystrophy, Walker- Warburg Syndrome	AR	97.69	NA of NA
*CSNK2A1*	Okur-Chung Neurodevelopmental Syndrome	AD	99.95	23 of 23
*CTNNA2*	Complex Cortical Dysplasia With Other Brain Malformations	AR	99.95	8 of 8
*CTU2*	Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	AR	99.93	6 of 6
*DAG1*	Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A and C, Alpha- Dystroglycan-Related Limb-Girdle Muscular Dystrophy, Muscle- Eye-Brain Disease With Bilateral Multicystic Leucodystrophy, Walker-Warburg Syndrome	AR	99.98	9 of 9
*DCHS1*	Van Maldergem Syndrome, Cerebrofacioarticular Syndrome	AD,AR	99.69	30 of 30
*DCX*	X-linked Lissencephaly	X,G	100	NA of NA
*DHCR24*	Desmosterolosis	AR	100	10 of 10
*DMXL2*	Early Infantile Epileptic Encephalopathy, Polyendocrine- Polyneuropathy Syndrome	AD,AR	99.83	19 of 23
*DYNC1H1*	Charcot-Marie- Tooth Disease, Axonal, Type 2o, Autosomal Dominant Mental Retardation, Spinal Muscular Atrophy	AD	100	104 of 104
*EML1*	Band Heterotopia	AR	98.88	7 of 7
*ETFA*	Multiple Acyl-CoA Dehydrogenase Deficiency	AR	92.33	32 of 32
*ETFB*	Multiple Acyl-CoA Dehydrogenase Deficiency	AR	100	21 of 21
*ETFDH*	Multiple Acyl-CoA Dehydrogenase Deficiency	AR	100	221 of 222
*FAT4*	Hennekam Lymphangiectasia- Lymphedema Syndrome, Van Maldergem Syndrome, Cerebrofacioarticular Syndrome, Hennekam Syndrome	AR	99.8	41 of 41
*FIG4*	Amyotrophic Lateral Sclerosis, Charcot-Marie- Tooth Disease, Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal, Polymicrogyria, Bilateral Temporooccipital, Amyotrophic Lateral Sclerosis, Bilateral Parasagittal Parieto-occipital Polymicrogyria, Yunis-Varon Syndrome	AD,AR	99.92	72 of 72
*FKRP*	Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A and C, Congenital Muscular Dystrophy With Cerebellar Involvement, Congenital Muscular Dystrophy With Intellectual Disability, Congenital Muscular Dystrophy Without Intellectual Disability , Muscle-Eye-Brain Disease, Walker- Warburg Syndrome	AR	99.9	157 of 157
*FKTN*	Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A and B, Limb- Girdle Muscular Dystrophy Type 2m, Congenital Muscular Dystrophy Without Intellectual Disability, Muscle- Eye-Brain Disease, Walker-Warburg Syndrome	AR	98	54 of 56
*FLI1*	Platelet-Type Bleeding Disorder, Jacobsen Syndrome, Paris-Trousseau Thrombocytopenia, Peripheral Primitive Neuroectodermal Tumor	AD,AR	100	7 of 7
*FOXG1*	Rett Syndrome, 14q12 Microdeletion Syndrome, FOXG1 Syndrome	AD	88.71	93 of 109
*FTO*	Growth Retardation, Developmental Delay, and Coarse Facies	AR	99.91	8 of 8
*GFM2*	Combined Oxidative Phosphorylation Deficiency Type 39	AR	99.35	5 of 7
*GMPPB*	Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A and B, Limb-Girdle Muscular Dystrophy-Dystrogly- canopathy Type C, Congenital Muscular Dystrophy With Cerebellar Involvement, Congenital Muscular Dystrophy With Intellectual Disability, Congenital Myasthenic Syndromes With Glycosylation Defect, GMPPB-Related Limb-Girdle Muscular Dystrophy, Muscle-Eye-Brain Disease	AR	99.95	53 of 53
*GNAO1*	Early Infnatile Epileptic Encephalopathy, Neurodevelopmental Disorder With Involuntary Movements	AD	100	47 of 47
*GPX4*	Spondylometaphyseal Dysplasia	AR	79.72	3 of 3
*HIC1*	Miller-Dieker Syndrome	–	97.7	NA of NA
*ISCA1*	Multiple Mitochondrial Dysfunctions Syndrome	AR	99.86	2 of 2
*KATNB1*	Lissencephaly With Microcephaly	AR	100	10 of 10
*KCNA1*	Episodic Ataxia Type 1, Early Infantile Epileptic Encephalopathy, Hereditary Continuous Muscle Fiber Activity, Paroxysmal Kinesigenic Dyskinesia	AD	100	49 of 49
*KIAA1109*	Alkuraya-Kucinskas Syndrome	AR	99.95	21 of 21
*KIF14*	Meckel Syndrome, Autosomal Recessive Primary Microcephaly	AR	99.84	18 of 18
*KIF2A*	Complex Cortical Dysplasia With Other Brain Malformations	AD	99.91	7 of 7
*KIFBP*	Goldberg- Shprintzen Syndrome	AR	99.27	NA of NA
*KNL1*	Autosomal Recessive Primary Microcephaly	AR	98.91	NA of NA
*LAGE3*	Galloway-Mowat Syndrome	X,XR,G	91.36	NA of NA
*LAMA2*	Muscular Dystrophy Congenital Merosin- Deficient, Limb-Girdle Muscular Dystrophy, Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	AR	100	363 of 377
*LAMB1*	Lissencephaly, Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	AR	99.97	8 of 9
*LAMC3*	Occipital Cortical Malformations	AR	98.72	22 of 22
*LARGE1*	Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A, Congenital Muscular Dystrophy Type 1d, Congenital Muscular Dystrophy With Intellectual Disability, Muscle- Eye-Brain Disease, Walker-Warburg Syndrome	AR	100	NA of NA
*MACF1*	Lissencephaly With Complex Brainstem Malformation	AD	99.94	18 of 18
*MCPH1*	Autosomal Recessive Primary Microcephaly	AR	99.51	18 of 19
*METTL5*	Intellectual Developmental Disorder, Autosomal Recessive Primary Microcephaly	AR	99.9	4 of 4
*MFSD2A*	Autosomal Recessive Primary Microcephaly	AR	97.58	6 of 6
*MLYCD*	Malonyl-CoA Decarboxylase Deficiency	AR	93.84	32 of 40
*MPDZ*	Autosomal Recessive Nonsyndromic Hydrocephalus	AR	99.44	58 of 58
*NCAPD3*	Autosomal Recessive Primary Microcephaly	AR	99.97	4 of 5
*NDE1*	Lissencephaly, Microhydranencephaly, Hydranencephaly	AR	86.55	12 of 13
*NEK1*	Amyotrophic Lateral Sclerosis, Short Rib- Polydactyly Syndrome Type II, Amyotrophic Lateral Sclerosis, Orofaciodigital Syndrome Type II	AD,AR,MU,D	99.83	73 of 74
*NEUROD2*	Early Infantile Epileptic Encephalopathy	AD	96.88	2 of 2
*NSDHL*	Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb, Ck Syndrome	X,XR,XD,G	100	NA of NA
*NUP107*	Galloway- Mowat Syndrome, Nephrotic Syndrome	AR	99.91	15 of 15
*NUP133*	Galloway- Mowat Syndrome, Nephrotic Syndrome	AR	99.94	6 of 6
*OCLN*	Pseudo-Torch Syndrome, Congenital Intrauterine Infection-like Syndrome	AR	86.89	15 of 17
*OSGEP*	Galloway-Mowat Syndrome	AR	99.17	19 of 19
*PAFAH1B1*	Lissencephaly, 17p13.3 Microduplication Syndrome, Miller-Dieker Syndrome	AD	99.95	90 of 92
*PEX10*	Peroxisome Biogenesis Disorder (Zellweger), Autosomal Recessive Ataxia Due To Pex10 Deficiency, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Zellweger Syndrome	AR	99.76	29 of 32
*PEX13*	Peroxisome Biogenesis Disorder (Zellweger) Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Zellweger Syndrome	AR	99.98	11 of 12
*PHC1*	Autosomal Recessive Primary Microcephaly	AR	91.73	1 of 1
*PHGDH*	Neu-Laxova Syndrome, Phosphoglycerate Dehydrogenase Deficiency, 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form, Neu-laxova Syndrome	AR	100	26 of 26
*PI4KA*	Presylvian Polymicrogyria With Cerebellar Hypoplasia And Arthrogryposis, Bilateral Perisylvian Polymicrogyria	AR	99.76	4 of 4
*PIGP*	Early Infantile Epileptic Encephalopathy	AR	99.98	2 of 2
*PIGQ*	Early Infantile Epileptic Encephalopathy	AR	99.99	4 of 4
*PIK3R2*	Megalencephaly– Polymicrogyria- Polydactyly- Hydrocephalus Syndrome	AD	90.81	7 of 7
*PNKP*	Ataxia-Oculomotor Apraxia, Charcot- Marie-Tooth Disease, Early Infantile Epileptic Encephalopathy	AR	100	36 of 36
*POMGNT1*	Muscular Dystrophy -Dystroglycanopathy (Congenital With Brain And Eye), Muscular Dystrophy- Dystroglycanopathy (Limb-Girdle), Type C, Retinitis Pigmentosa, Congenital Muscular Dystrophy With Cerebellar Involvement, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome	AR	99.91	82 of 83
*POMGNT2*	Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A, Muscular Dystrophy- Dystroglyc- anopathy (Limb-Girdle), Type C, Walker-warburg Syndrome	AR	100	10 of 10
*POMK*	Muscular Dystrophy -Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A, Muscular Dystrophy- Dystroglycanopathy (Limb-Girdle), Type C, Congenital Muscular Dystrophy With Cerebellar Involvement, Walker-Warburg Syndrome	AR	99.99	8 of 8
*POMT1*	Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A, Muscular Dystrophy- Dystroglycanopathy (Congenital With Mental Retardation), Type B, Limb-Girdle Muscular Dystrophy Type 2k, Congenital Muscular Dystrophy With Cerebellar Involvement, Congenital Muscular Dystrophy With Intellectual Disability, Muscle-Eye -Brain Disease , POMT1-Related Limb-girdle Muscular Dystrophy, Walker- Warburg Syndrome	AR	100	105 of 105
*POMT2*	Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A, Muscular Dystrophy- Dystroglycanopathy (Congenital With Mental Retardation), Type B, Muscular Dystrophy- dystroglycanopathy (Limb-Girdle), Type C, Congenital Muscular Dystrophy With Cerebellar Involvement, Congenital Muscular Dystrophy With Intellectual Disability, Muscle-Eye-Brain Disease , POMT2 -Related Limb-Girdle Muscular Dystrophy, Walker-Warburg Syndrome	AR	100	74 of 74
*PRKDC*	Immunodeficiency With Or Without Neurologic Abnormalities	AR	99.74	9 of 10
*PSAT1*	Neu-Laxova Syndrome, Phosphoserine Aminotransferase Deficiency	AR	99.95	9 of 9
*PYCR2*	Hypomyelinating Leukodystrophy, Autosomal Recessive Primary Microcephaly	AR	98.29	14 of 14
RAB18	Warburg Micro Syndrome	AR	100	4 of 4
RAB3GAP1	Warburg Micro Syndrome, Cataract-Intellectual Disability-Hypogonadism Syndrome	AR	99.94	70 of 70
RAB3GAP2	Martsolf Syndrome, Warburg Micro Syndrome, Autosomal Recessive Spastic Paraplegia Type 69, Cataract- Intellectual Disability- Hypogonadism Syndrome	AR	100	17 of 17
RELN	Familial Temporal Lobe Epilepsy, Lissencephaly	AD,AR	100	70 of 70
RMND1	Combined Oxidative Phosphorylation Deficiency	AR	99.67	15 of 16
RNU4ATAC	Lowry-Wood Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Type I, Roifman Syndrome	AR	na	na
RTTN	Microcephaly, Short Stature, And Polymicrogyria With Seizures	AR	99.94	28 of 29
RXYLT1	Muscular Dystrophy- Dystroglycanopathy (Congenital With Brain And Eyeanomalies), Type A, Walker- Warburg Syndrome	AR	99.46	NA of NA
SASS6	Autosomal Recessive Primary Microcephaly	AR	99.14	6 of 6
SCN1B	Early Infantile Epileptic Encephalopathy, Generalized Epilepsy With Febrile Seizures Plus Type 1, Dravet Syndrome	AD,AR	99.67	46 of 48
SCN2A	Early Infantile Epileptic Encephalopathy, Episodic Ataxia Type 9, Benign Familial Neonatal- Infantile Seizures, Benign Familial Infantile Epilepsy, Dravet Syndrome, Generalized Epilepsy With Febrile Seizures- Plus, West Syndrome	AD	100	351 of 351
SIK1	Early Infantile Epileptic Encephalopathy, Early Myoclonic Encephalopathy, West Syndrome	AD	99.67	9 of 9
SLC25A19	Microcephaly, Thiamine Metabolism Dysfunction Syndrome (Bilateral Striatal Degenerationand Progressive Polyneuropathy Type), Amish Lethal Microcephaly	AR	97.13	10 of 10
SLC25A22	Early Infantile Epileptic Encephalopathy, Early Myoclonic Encephalopathy	AR	100	16 of 16
SNAP29	Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome, Cednik Syndrome	AR	100	13 of 13
SRPX2	Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, X-linked, Bilateral Perisylvian Polymicrogyria, Rolandic Epilepsy -Speech Dyspraxia Syndrome	AD	100	NA of NA
STIL	Autosomal Recessive Primary Microcephaly	AR	99.94	18 of 18
STS	Recessive X-linked Ichthyosis	X,XR,G	100	NA of NA
STXBP1	9q33.3q34.11 Microdeletion Syndrome, Atypical Rett Syndrome, Dravet Syndrome, Early Infantile Epileptic Encephalopathy, West Syndrome	AD	100	209 of 215
TAF13	Autosomal Recessive Mental Retardation, Autosomal Recessive Primary Microcephaly	AR	99.97	5 of 5
TBC1D20	Warburg Micro Syndrome	AR	99.94	6 of 6
TBR1	Intellectual Developmental Disorder With Autism And Speech Delay, 2q24 Microdeletion Syndrome	AD	99.04	13 of 13
TCTN1	Joubert Syndrome	AR	94.98	10 of 10
TCTN2	Joubert Syndrome, Meckel Syndrome	AR	100	14 of 14
TMTC3	Lissencephaly , Periventricular Nodular Heterotopia	AR	99.04	10 of 10
TMX2	Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	AR	99.98	12 of 12
TP53RK	Galloway- Mowat Syndrome	AR	97.68	5 of 5
TPRKB	Galloway- Mowat Syndrome	AR	85.66	2 of 2
TRAPPC14	Autosomal Recessive Primary Microcephaly	AR	na	na
TRIM8	Early Infantile Epileptic Encephalopathy	–	99.5	7 of 7
TUBA1A	Lissencephaly	AD	100	95 of 95
TUBB2B	Complex Cortical Dysplasia, With Other Brain Malformations, Dysequilibrium Syndrome, Polymicrogyria Due To TUBB2B Mutation	AD	84.28	29 of 38
TUBB3	Complex Cortical Dysplasia, With Other Brain Malformations, Congenial Fibrosis Of Extraocular Muscles, Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To TUBB3 Mutation	AD	99.96	30 of 30
TUBG1	Complex Cortical Dysplasia, With Other Brain Malformations	AD	99.94	10 of 10
TUBGCP2	Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures	AR	96.78	4 of 4
TUBGCP6	Microcephaly With Chorioretinopathy	AR	99.49	12 of 13
VAC14	Childhood-Onset Striatonigral Degeneration, Yunis-Varon Syndrome	AR	100	11 of 11
VIPAS39	Arthrogryposis, Renal Dysfunction, And Cholestasis	AR	100	15 of 15
VLDLR	Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion, Dysequilibrium Syndrome	AR	100	20 of 20
VPS33B	Arthrogryposis, Renal Dysfunction, And Cholestasis	AR	100	62 of 62
WDR26	Skraban– Deardorff Syndrome, Intellectual Disability- Seizures- Abnormal Gait-Facial Dysmorphism Syndrome	AD	99.31	22 of 22
WDR4	Galloway- Mowat Syndrome, Microcephaly, Growth Deficiency, Seizures, And Brain Malformations, Galloway- Mowat Syndrome	AR	99.91	7 of 7
WDR62	Autosomal Recessive Primary Microcephaly	AR	100	60 of 61
WDR73	Galloway-Mowat Syndrome, Camos Syndrome	AR	95.71	14 of 14
YWHAE	17p13.3 Microduplication Syndrome, Miller-Dieker Syndrome	–	98.99	0 of 1
ZNHIT3	Peho Syndrome	AR	73.96	1 of 1

* Herencia: AD: Autosómico Dominante; AR: autosómico recesivo; X: ligado a X; XLR: recesivo vinculado a X; Mi: mitocondrial; Mu: multifactorial; G: herencia gonosomal; D: herencia digénica

** HGMD: número de mutaciones clínicamente relevantes según HGMD

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