GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
ADSL | Adenylosuccinase Deficiency | AR | 100 | 59 of 59 |
ALDH5A1 | Succinic Semialdehyde Dehydrogenase Deficiency | AR | 95.41 | 65 of 69 |
ATP1A3 | Alternating Hemiplegia Of Childhood, Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss, Rapid-Onset Dystonia- Parkinsonism | AD | 99.94 | 138 of 138 |
ATRX | Alpha- thalassemia/Mental Retardation Syndrome, Mental Retardation- Hypotonic Facies Syndrome, Carpenter- Waziri Syndrome, Chudley– Lowry-Hoar Syndrome, Holmes-Gang Syndrome, Juberg-Marsidi Syndrome, Smith-Fineman- Myers Syndrome | X,XR,XD,G | 98.5 | NA of NA |
CACNA1A | Early Infantile Epileptic Encephalopathy, Episodic Ataxia Type 2, Spinocerebellar Ataxia, Benign Paroxysmal Torticollis Of Infancy, Familial Or Sporadic Hemiplegic Migraine | AD | 96.13 | 249 of 266 |
CASK | 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 |
CDKL5 | Early Infantile Epileptic Encephalopathy, Atypical Rett Syndrome, West Syndrome | X,XD,G | 99.92 | NA of NA |
CHD2 | Childhood-Onset Epileptic Encephalopathy, Lennox-Gastaut Syndrome, Myoclonic-Astastic Epilepsy | AD | 98.91 | 103 of 103 |
CHRNA2 | Epilepsy, Nocturnal Frontal Lobe | AD | 99.91 | 8 of 8 |
CHRNA4 | Epilepsy, Nocturnal Frontal Lobe | AD | 99.8 | 24 of 24 |
CHRNA7 | 15q13.3 Microdeletion Syndrome | AD | 82.09 | 2 of 2 |
CHRNB2 | Epilepsy, Nocturnal Frontal Lobe | AD | 100 | 13 of 13 |
CLCN4 | X-linked Intellectual Disability Syndrome | X,XR,XD,G | 99.69 | NA of NA |
CLN3 | Neuronal Ceroid Lipofuscinosis | AR | 99.93 | 73 of 75 |
CLN5 | Neuronal Ceroid Lipofuscinosis | AR | 99.56 | 52 of 55 |
CLN6 | Neuronal Ceroid Lipofuscinosis | AR | 99.94 | 98 of 99 |
CLN8 | Neuronal Ceroid Lipofuscinosis, Progressive Epilepsy- Intellectual Disability Syndrome | AR | 100 | 44 of 45 |
CNTNAP2 | Pitt-Hopkins-like Syndrome | AR | 99.91 | 39 of 41 |
CSTB | Myoclonic Epilepsy Of Unverricht And Lundborg, Autosomal Recessive Hypohidrotic Ectodermal Dysplasia | AR | 100 | 14 of 14 |
CTSD | Neuronal Ceroid Lipofuscinosis | AR | 100 | 18 of 18 |
DDX3X | X-linked Intellectual Disability- Hypotonia-Movement Disorder Syndrome | X,XR,XD,G | 99.03 | NA of NA |
DEPDC5 | Familial Focal Epilepsy | AD | 100 | 127 of 127 |
DYRK1A | Intellectual Disability Syndrome | AD | 99.85 | 78 of 81 |
EEF1A2 | Early Infantile Epileptic Encephalopathy, Undetermined Early-Onset Epileptic Encephalopathy | AD | 100 | 14 of 14 |
EHMT1 | Kleefstra Syndrome | AD | 98.58 | 58 of 75 |
EPM2A | Myoclonic Epilepsy Of Lafora | AR | 89.2 | 63 of 70 |
FOLR1 | Neurodegeneration Due To Cerebral Folate Transport Deficiency | AR | 100 | 19 of 23 |
FOXG1 | Rett Syndrome, 14q12 Microdeletion Syndrome, Foxg1 Syndrome | AD | 88.71 | 93 of 109 |
GABBR2 | Early Infantile Epileptic Encephalopathy, Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills, Atypical Rett Syndrome | AD | 95.98 | 7 of 7 |
GABRA1 | Early Infantile Epileptic Encephalopathy, Childhood Absence Epilepsy, Dravet Syndrome, Juvenile Myoclonic Epilepsy | AD | 100 | 45 of 46 |
GABRB2 | Early Infantile Epileptic Encephalopathy | AD | 99.19 | 16 of 19 |
GABRB3 | Early Infantile Epileptic Encephalopathy, Childhood Absence Epilepsy, Lennox-Gastaut Syndrome | AD | 100 | 54 of 62 |
GABRG2 | Early Epilepsy, Childhood Absence, 2 , Epileptic Encephalopathy, Early Infantile, 74; Eiee74 , Childhood Absence Epilepsy , Dravet Syndrome , Generalized Epilepsy With Febrile Seizures-plus , Rolandic Epilepsy , Undetermined Early-onset Epileptic Encephalopathy | AD | 99.67 | 53 of 53 |
GAMT | Cerebral Creatine Deficiency Syndrome, Guanidinoacetate Methyltransferase Deficiency | AR | 99.92 | 60 of 60 |
GATM | Cerebral Creatine Deficiency Syndrome, Fanconi Renotubular Syndrome | AD,AR | 99.98 | 21 of 21 |
GNAO1 | Early Infantile Epileptic Encephalopathy, Neurodevelopmental Disorder With Involuntary Movements | AD | 100 | 47 of 47 |
GOSR2 | Progressive Myoclonic Epilepsy | AR | 88.39 | 6 of 6 |
GRIN1 | Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures | AD,AR | 100 | 43 of 43 |
GRIN2A | Focal Epilepsy, With Speech Disorder And With Or Without Mental Retardation, Rolandic Epilepsy-Speech Dyspraxia Syndrome | AD | 100 | 143 of 143 |
HDC | Gilles De La Tourette Syndrome | AD | 100 | 4 of 4 |
IQSEC2 | X-linked Mental Retardation, Microduplication Xp11.22p11.23 Syndrome, Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome, Smith-Magenis Syndrome | X,XR,XD,G | 99.73 | NA of NA |
KANSL1 | Koolen-de Vries Syndrome | AD | 96.03 | 22 of 27 |
KCNA2 | Early Infantile Epileptic Encephalopathy | AD | 99.86 | 23 of 23 |
KCNC1 | Progressive Myoclonic Epilepsy | AD | 99.87 | 10 of 10 |
KCNMA1 | Cerebellar Atrophy, Developmental Delay, And Seizures, Epilepsy, Generalized Epilepsy And Paroxysmal Dyskinesia, Liang-Wang Syndrome | AD,AR | 99.98 | 24 of 26 |
KCNT1 | Nocturnal Frontal Lobe Epilepsy, Early Infantile Epileptic Encephalopathy | AD | 95.98 | 64 of 64 |
KCTD7 | Progressive Myoclonic Epilepsy With Or Without Intracellular Inclusions | AR | 99.99 | 40 of 40 |
KDM6A | Kabuki Syndrome | AD,X,XD,G | 99.98 | NA of NA |
LAMA1 | Poretti-Boltshauser Syndrome, Ataxia-Intellectual Disability- Oculomotor Apraxia- Cerebellar Cysts Syndrome | AR | 100 | 43 of 43 |
LGI1 | Autosomal Dominant Lateral Temporal Lobe Epilepsy | AD | 99.94 | 54 of 54 |
MAGI2 | Nephrotic Syndrome | AR | 93.82 | 7 of 9 |
MBD5 | Autosomal Dominant Mental Retardation, 2q23.1 Microdeletion Syndrome | AD | 99.99 | 33 of 35 |
MECP2 | X-linked Autism, Severe Neonatal Encephalopathy, Lubs X-linked Mental Retardation Syndrome, Rett Syndrome, Atypical Rett Syndrome | X,XR,XD,MU,G | 99.81 | NA of NA |
MEF2C | Mental Retardation, Stereotypic Movements, Epilepsy, And/Or Cerebralmalformations, 5q14.3 Microdeletion Syndrome | AD | 99.91 | 43 of 46 |
MFSD8 | Neuronal Ceroid Lipofuscinosis, Macular Dystrophy With Central Cone Involvement | AR | 100 | 63 of 63 |
NALCN | Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay, Digitotalar Dysmorphism, Freeman- Sheldon Syndrome, Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome, Sheldon-Hall Syndrome | AD,AR | 99.97 | 69 of 69 |
NEXMIF | X-linked Mental Retardation | X,XR,XD,G | 99.74 | NA of NA |
NGLY1 | Congenital Disorder Of Glycosylation Type IV, Alacrimia-Choreoathetosis- Liver Dysfunction Syndrome | AR | 99.8 | 28 of 28 |
NHLRC1 | Myoclonic Epilepsy Of Lafora | AR | 100 | 71 of 71 |
NPRL3 | Familial Focal Epilepsy With Variable Foci | AD | 99.61 | 18 of 18 |
NRXN1 | Pitt-Hopkins-like Syndrome | AR | 97.42 | 33 of 74 |
NTNG1 | Atypical Rett Syndrome, Non-Specific Syndromic Intellectual Disability | | 99.96 | 2 of 2 |
OCLN | Pseudo-Torch Syndrome, Congenital Intrauterine Infection-like Syndrome | AR | 86.89 | 15 of 17 |
PACS1 | Autosomal Dominant Mental Retardation, Intellectual Disability- Craniofacial Dysmorphism- Cryptorchidism Syndrome | AD | 97.98 | 3 of 3 |
PCDH19 | Epilepsy, Female-Restricted, With Mental Retardation, Dravet Syndrome | X,G | 99.99 | NA of NA |
PIGN | Multiple Congenital Anomalies- Hypotonia-Seizures Syndrome, Fryns Syndrome | AR | 93.97 | 36 of 39 |
PNKP | Ataxia-Oculomotor Apraxia, Charcot-Marie-Tooth Disease, Axonal, Type 2b2, Early Infantile Epileptic Encephalopathy, Early Infantile Epileptic Encephalopathy | AR | 100 | 36 of 36 |
POLG | Mitochondrial DNA Depletion Syndrome, Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Alpers-Huttenlocher Syndrome, Progressive External Ophthalmoplegia, Sensory Ataxic Neuropathy-Dysarthria- Ophthalmoparesis Syndrome | AD,AR | 99.92 | 325 of 326 |
PPP2R5D | Autosomal Dominant Mental Retardation, Intellectual Disability-Macrocephaly- Hypotonia-Behavioral Abnormalities Syndrome | AD | 100 | 11 of 11 |
PPT1 | Neuronal Ceroid Lipofuscinosis | AR | 100 | 81 of 81 |
PURA | Autosomal Dominant Mental Retardation | AD | 85.36 | 59 of 65 |
SCN1A | Early Infantile Epileptic Encephalopathy, Familial Febrile Convulsions, Dravet Syndrome, Familial Or Sporadic Hemiplegic Migraine, Lennox-Gastaut Syndrome | AD | 99.8 | 1776 of 1797 |
SCN1B | Early Infantile Epileptic Encephalopathy, Generalized Epilepsy With Febrile Seizures Plus, Dravet Syndrome | AD,AR | 99.67 | 46 of 48 |
SCN2A | Early Infantile Epileptic Encephalopathy, Episodic Ataxia, Seizures, Benign Familial Neonatal-Infantile, Dravet Syndrome, West Syndrome | AD | 100 | 351 of 351 |
SLC19A3 | Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Diseas Syndrome, Leigh Syndrome With Leukodystrophy | AR | 100 | 38 of 39 |
SLC2A1 | Episodic Epilepsy Choreoathetosis/Spasticity, Glut1 Deficiency Syndrome, Stomatin-Deficient Cryohydrocytosis With Neurologic Defects, Childhood Absence Epilepsy, Paroxysmal Exertion-Induced Dyskinesia | AD,AR | 99.99 | 301 of 304 |
SLC6A1 | Myoclonic-Astastic Epilepsy | AD | 100 | 55 of 55 |
SLC6A8 | X-linked Creatine Transporter Deficiency | X,XR,G | 99.87 | NA of NA |
SLC9A6 | X-linked Mental Retardation , Christianson Syndrome | X,XD,G | 98.87 | NA of NA |
SLITRK1 | Gilles De La Tourette Syndrome | AD,MU | 100 | 10 of 12 |
SMC1A | Cornelia De Lange Syndrome, Semilobar Holoprosencephaly, Wiedemann-Steiner Syndrome | X,XR,XD,G | 100 | NA of NA |
SPATA5 | Epilepsy, Hearing Loss, And Mental Retardation Syndrome, Microcephaly- Intellectual Disability- Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome | AR | 99.83 | 30 of 30 |
STX1B | Generalized Epilepsy With Febrile Seizures Plus | AD | 100 | 24 of 24 |
STXBP1 | Early Infantile Epileptic Encephalopathy, Atypical Rett Syndrome, Dravet Syndrome, West Syndrome | AD | 100 | 209 of 215 |
SYNGAP1 | Autosomal Dominant Mental Retardation, Syngap1-Related Developmental And Epileptic Encephalopathy | AD | 99.46 | 168 of 171 |
TBC1D24 | Autosomal Dominant Deafness, Autosomal Recessive Deafness, Doors Syndrome, Rolandic Epilepsy With Paroxysmal Exercise-Induced Dystonia And Writer’s Cramp, Early Infantile Epileptic Encephalopathy, Familial Infantile Myoclonic Epilepsy, Progressive Myoclonic Epilepsy With Dystonia | AD,AR | 100 | 80 of 80 |
TCF4 | Fuchs Endothelial Corneal Dystrophy, Pitt-Hopkins Syndrome, Primary Sclerosing Cholangitis | AD | 98.91 | 124 of 124 |
TPP1 | Neuronal Ceroid Lipofuscinosis, Spinocerebellar Ataxia | AR | 100 | 147 of 147 |
UBE3A | Angelman Syndrome | AD | 99.98 | 208 of 211 |
WDR45 | Neurodegeneration With Brain Iron Accumulation, West Syndrome | X,XD,G | 100 | NA of NA |
ZEB2 | Mowat-Wilson Syndrome | AD | 98.95 | 253 of 254 |