Genomics Precision Diagnostic > Neurology Precision Panel > Comprehensive Epilepsy Precision Panel

Comprehensive Epilepsy Precision Panel

Epilepsy is a central nervous system disease characterized by recurrent unprovoked seizures, which are brief episodes of involuntary movement that may involve a part of the body (partial) or the entire body (generalized) and can be accompanied by loss of consciousness and loss of control of bowel or bladder function.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

Epilepsy is a central nervous system disease characterized by recurrent unprovoked seizures, which are brief episodes of involuntary movement that may involve a part of the body (partial) or the entire body (generalized) and can be accompanied by loss of consciousness and loss of control of bowel or bladder function. Around 50 million people worldwide have epilepsy, making it one of the most common neurological diseases globally. Epilepsy entails an enduring predisposition to generate neurobiological, cognitive, psychological and social consequences. Multiple risk factors exist for epilepsy one of them being a strong genetic predisposition. The three major classes of epilepsy disorders are genetic generalized, focal and encephalopathic epilepsies, with several specific disorders within each class.Epilepsy genetics is shifting from an academic pursuit to a clinical discipline based on molecular diagnosis and stratified medicine. Mutations leading to epilepsy have been identified in genes encoding ion channels, neurotransmitter receptors, molecular cascade of cellular energy production and proteins involved in neuronal excitability. The mode of inheritance ranges from autosomal dominant, recessive all the way to mitochondrial.
The IgenomixComprehensive EpilepsyPrecision Panel can serve as an accurate and directed diagnostic toolas well as for a differential diagnosis of recurrent seizures 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 Comprehensive EpilepsyPrecision Panel is indicated in patients with a clinical suspicion or diagnosis presenting with the following manifestations:
- Family history of epilepsy or treatment-resistant seizures
- Disturbances of movement
- Vision, hearing and taste disturbances
- Temporary confusion
- Uncontrollable jerking movements of the arms and legs
- Fear, anxiety or deja vu
- Loss of consciousness or awareness

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 with antiepileptic medication and monitoring of side effects, epilepsy surgery if indicated and dietary modifications.
Establish recurrence risk depending on the type of epilepsy, genetic background and clinical presentation.
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**
*AARS1*	Charcot-Marie-Tooth Disease, Epileptic Encephalopathy	AD,AR	99.07	30 of 30
*ABAT*	Gaba-Transaminase Deficiency	AR	100	9 of 9
*ABCA2*	Intellectual Developmental Disorder, Seizures, Ataxia	AR	99.05	11 of 11
*ABCC8*	Diabetes Mellitus, Hyperinsulinemic Hypoglycemia, Dend Syndrome	AD,AR	99.98	710 of 712
*ABCD1*	Adrenoleukodystrophy	X,XR,G	100	–
*ACTL6B*	Epileptic Encephalopathy, Intellectual Developmental Disorder	AD,AR	100	21 of 21
*ACY1*	Aminoacylase 1 Deficiency	AR	100	15 of 15
*ADAM22*	Epileptic Encephalopathy	AR	99.98	4 of 4
*ADAR*	Aicardi-GoutieresSyndrome, DyschromatosisSymmetrica, Bilateral Striatal Necrosis	AD,AR	99.93	252 of 252
*ADGRG1*	Polymicrogyria	AR	100	–
*ADGRV1*	Febrile Convulsions, Usher Syndrome, Epilepsy	AD,AR	97.53	–
*ADPRS*	Neurodegeneration, Ataxia	AR	99.86	11 of 11
*ADRA2B*	Epilepsy	–	100	5 of 5
*ADSL*	Adenylosuccinate LyaseDeficiency	AR	100	59 of 59
*AFG3L2*	OpticAtrophy, Ataxia, Epilepsy	AD,AR	99.74	42 of 42
*AGA*	Aspartylglucosaminuria	AR	100	35 of 35
*AHI1*	Joubert Syndrome, Retinitis Pigmentosa	AR	96.79	85 of 97
*AIFM1*	Oxidative Phosphorylation Deficiency, Cowchock Syndrome, Deafness, Spondyloepimetaphyseal Dysplasia, Leukoencephalopathy, Mitochondrial Encephalomyopathy, Charcot-Marie-Tooth Disease	X,XR,G	100	–
*AIMP1*	Leukodystrophy, IntellectualDisability	AR	100	10 of 10
*AKT3*	Megalencephaly- Polymicrogyria- Postaxial Polydactyly- Hydrocephalus Syndrome	AD	99.9	9 of 11
*ALDH3A2*	Sjogren-Larsson Syndrome	AR	96	119 of 119
*ALDH4A1*	Hyperprolinemia	AR	100	7 of 7
*ALDH5A1*	SuccinicSemialdehyde Dehydrogenase Deficiency	AR	95.41	65 of 69
*ALDH7A1*	Epilepsy	AR	99.98	131 of 134
*ALG1*	CongenitalDisorder Of Glycosylation	AR	100	46 of 46
*ALG12*	CongenitalDisorder Of Glycosylation	AR	100	17 of 17
*ALG13*	EpilepticEncephalopathy, IntellectualDisability	X,XR,XD,G	99.62	–
*ALG2*	Congenital Disorder Of Glycosylation, Myasthenic Syndrome	AR	99.61	7 of 7
*ALG3*	CongenitalDisorder Of Glycosylation	AR	99.2	25 of 25
*ALG6*	CongenitalDisorder Of Glycosylation	AR	99.91	24 of 24
*ALG8*	Congenital Disorder Of Glycosylation, Polycystic Liver Disease	AD,AR	99.5	22 of 22
*ALG9*	Congenital Disorder Of Glycosylation, Polycystic Kidney Disease, Microbrachycephaly, Hypertelorism	AR	99.99	6 of 6
*ALKBH8*	IntellectualDevelopmental Disorder	AR	99.2	2 of 2
*AMACR*	Alpha-Methylacyl-Coa Racemase Deficiency	AR	100	8 of 8
*AMT*	GlycineEncephalopathy	AR	99.98	94 of 96
*ANK3*	Mental Retardation	AR	99.76	22 of 23
*ANKRD11*	Kbg Syndrome, 16q24.3 Microdeletion Syndrome	AD	99.6	119 of 124
*AP2M1*	Intellectual Developmental Disorder, Myoclonic Astastic Epilepsy	AD	100	1 of 1
*AP3B2*	EpilepticEncephalopathy	AR	99.95	11 of 12
*AP4B1*	SpasticParaplegia, IntellectualDisability	AR	99.64	22 of 22
*AP4E1*	Spastic Paraplegia, Stuttering, Severe Intellectual Disability	AD,AR	99.94	17 of 17
*AP4M1*	Spastic Paraplegia, Severe Intellectual Disability	AR	100	18 of 18
*AP4S1*	Spastic Paraplegia, Severe Intellectual Disability	AR	99.95	8 of 8
*ARFGEF2*	Microcephaly, Periventricular Nodular Heterotopia	AR	100	15 of 15
*ARG1*	Argininemia	AR	100	66 of 68
*ARHGEF15*	Angelman Syndrome, Epileptic Encephalopathy, Spastic Ataxia	–	99.89	3 of 3
*ARHGEF9*	Hyperekplexia, Epilepsy	X,XR,G	100	–
*ARID1B*	Coffin-Siris Syndrome, 6q25 Microdeletion Syndrome	AD	93.87	226 of 238
*ARL13B*	Joubert Syndrome	AR	99.77	10 of 10
*ARSA*	Metachromatic Leukodystrophy	AR	98	266 of 266
*ARSB*	Mucopolysaccharidosis	AR	99.83	217 of 220
*ARV1*	EpilepticEncephalopathy	AR	100	3 of 3
*ARX*	Corpus Callosum, Epileptic Encephalopathy, Lissencephaly, Mental Retardation, Partington Syndrome, West Syndrome	X,XR,G	81.92	–
*ASAH1*	Farber Lipogranulomatosis, Spinal Muscular Atrophy, MyoclonicEpilepsy	AR	99.98	69 of 70
*ASNS*	AsparagineSynthetase Deficiency	AR	99.98	37 of 37
*ASPA*	CanavanDisease	AR	99.56	93 of 94
*ASPM*	Microcephaly	AR	99.74	221 of 222
*ASXL3*	Bainbridge-Ropers Syndrome, Feeding Difficulties, Failure To Thrive, Microcephaly	AD		77 of 81
*ATAD1*	Hyperekplexia	AR	99.97	3 of 3
*ATIC*	Imp Cyclohydrolase, Charcot Marie Tooth Disease	AR	98.77	8 of 8
*ATN1*	CongenitalHypotonia, Chorea, Seizures, Dementia, Dentatorubral Pallidoluysian Atrophy	AD	99.86	11 of 11
*ATP13A2*	Kufor-Rakeb Syndrome, Spastic Paraplegia, Ceroid Lipofuscinosis	AR	99.97	53 of 53
*ATP1A2*	Alternating Hemiplegia Of Childhood, Migraine	AD	100	108 of 108
*ATP1A3*	Alternating Hemiplegia Of Childhood, Cerebellar Ataxia, Optic Atrophy, Sensorineuralhearing Loss, Dystonia, Areflexia, Pes Cavus, Parkinsonism	AD	99.94	138 of 138
*ATP2A2*	AcrokeratosisVerruciformis, Darier-White Disease	AD	100	298 of 301
*ATP6AP2*	Congenital Disorder Of Glycosylation, Mental Retardation, Epilepsy, Parkinsonism	X,XR,G	100	–
*ATP6V0A2*	Cutis Laxa, Wrinkly Skin Syndrome	AR	99.99	55 of 55
*ATP6V1A*	Cutis Laxa, Epileptic Encephalopathy	AD,AR	99.98	9 of 9
*ATP7A*	Cutis Laxa, Menkes Disease, Spinal Muscular Atrophy, Occipital HornSyndrome	X,XR,G	99.83	–
*ATPAF2*	AtpaseDeficiency	AR	100	2 of 2
*ATRX*	Alpha-Thalassemia MyelodysplasiaSyndrome, Mental Retardation- Hypotonic Facies Syndrome , Carpenter-Waziri Syndrome, Chudley-Lowry-Hoar Syndrome, Holmes- GangSyndrome, Juberg- MarsidiSyndrome, Smith- Fineman-Myers Syndrome	X,XR,XD,G	98.5	–
*AUH*	3-Methylglutaconic Aciduria	AR	99.99	11 of 11
*B4GALT1*	CongenitalDisorder Of Glycosylation	AR	99.97	3 of 3
*BCKDK*	Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency	–	99.91	6 of 6
*BCS1L*	BjornstadSyndrome, GracileSyndrome, Leigh Syndrome, MitochondrialComplex IIIDeficiency	AR,MI	99.96	40 of 42
*BOLA3*	Mitochondrial Dysfunctions Syndrome	AR	100	8 of 8
*BRAF*	Cardiofaciocutaneous Syndrome, Leopard Syndrome, Lung Cancer, Craniopharyngioma, Noonan Syndrome	AD	100	80 of 80
*BRAT1*	Neurodevelopmental Disorder, Cerebellar Atrophy, Rigidity And Multifocal Seizure Syndrome	AR	99.95	29 of 29
*BRD2*	Photosensitive Epilepsy	–	92.11	1 of 1
*BTD*	Biotinidase Deficiencymultiple Carboxylase Deficiency	AR	100	261 of 262
*BUB1B*	Colorectal Cancer, Mosaic Variegated Aneuploidy Syndrome	AD,AR	99.84	30 of 31
*C12ORF57*	Craniofacial Dysmorphism, Ocular Coloboma, Temtamy Syndrome	AR	–	–
*CACNA1A*	Epileptic Encephalopathy, Ataxia, Migraine, Benign Paroxysmal Torticollis Of Infancy	AD	96.13	249 of 266
*CACNA1B*	Neurodevelopmental Disorder, Seizures, Hyperkinetic Movements, Epileptic Encephalopathy	AR	95.83	7 of 7
*CACNA1D*	Primary Aldosteronism, Seizures, Neurologic Abnormalities, Sinoatrial Node Dysfunction, Deafness	AD,AR	100	18 of 18
*CACNA1E*	Epileptic Encephalopathy	AD	99.94	25 of 25
*CACNA1H*	Hyperaldosteronism, Epilepsy	AD	98.05	71 of 71
*CACNA2D2*	CerebellarAtrophy, Seizures, DevelopmentalDelay	AR	94	10 of 10
*CACNB4*	Epilepsy, Ataxia	AD	99.87	5 of 5
*CAD*	Epileptic Encephalopathy	AR	100	12 of 12
*CARS2*	Oxidative Phosphorylation Deficiency	AR	99.14	6 of 6
*CASK*	Anemia, Fg Syndrome, Mental Retardation, Microcephaly, Pontine And Cerebellar Hypoplasia, Epileptic Encephalopathy	X,XR,XD,G	99.98	–
*CASR*	Hyperparathyroidism, Hypocalcemia, Pancreatitis	AD,AR	100	445 of 446
*CBL*	Myelomonocytic Leukemia, Noonan Syndrome, Mastocytosis, Noonan Syndrome	AD	100	46 of 47
*CC2D1A*	Mental Retardation	AR	100	7 of 7
*CC2D2A*	Coach Syndrome, Joubert Syndrome, Meckel Syndrome	AR	99.43	98 of 100
*CCDC88C*	Hydrocephalus, Spinocerebellar Ataxia	AD,AR	99.44	13 of 14
*CCL2*	Neural TubeDefects	AD	100	–
*CDK9*	Inmune Deficiency Disease, Myeloma	–	82.69	2 of 2
*CDKL5*	Epileptic Encephalopathy, Atypical Rett Syndrome, West Syndrome	X,XD,G	99.92	–
*CENPJ*	Microcephaly, SeckelSyndrome	AR	99.97	13 of 13
*CEP290*	Bardet-Biedl Syndrome, Joubert Syndrome, Leber Congenital Amaurosis, Meckel Syndrome, Senior- Loken Syndrome	AR	96.47	293 of 327
*CERS1*	Epilepsy	AR	72.1	2 of 2
*CERT1*	Mental Retardation	AD	99.98	8 of 8
*CHD2*	Epileptic Encephalopathy, Lennox-Gastaut Syndrome	AD	98.91	103 of 103
*CHRNA2*	Epilepsy	AD	99.91	8 of 8
*CHRNA4*	Epilepsy	AD	99.8	24 of 24
*CHRNB2*	Epilepsy	AD	100	13 of 13
*CILK1*	Endocrine- Cerebroo- steodysplasia, Epilepsy	AD,AR	100	–
*CLCN2*	Epilepsy, Hyperaldosteronism, Leukoencephalopathy	AD,AR	100	39 of 39
*CLCN4*	Mental Retardation	X,XR,XD,G	99.69	–
*CLN3*	CeroidLipofuscinosis	AR	99.93	73 of 75
*CLN5*	CeroidLipofuscinosis	AR	99.56	52 of 55
*CLN6*	CeroidLipofuscinosis	AR	99.94	98 of 99
*CLN8*	CeroidLipofuscinosis, IntellectualDisability	AR	100	44 of 45
*CLTC*	Mental Retardation, Epileptic Encephalopathy	AD	98.81	14 of 14
*CNKSR2*	Mental Retardation, Epileptic Encephalopathy	X,G	99.11	–
*CNPY3*	Epileptic Encephalopathy, West Syndrome	AR	100	5 of 5
*CNTN2*	Epilepsy	AR	99.98	6 of 6
*CNTNAP2*	Pitt-Hopkins- LikeSyndrome	AR	99.91	39 of 41
*COA7*	Spinocerebellar Ataxia	AR	99.99	6 of 6
*COA8*	MitochondrialComplexIv Deficiency, Leukoencephalopathy	AR,MI	86.26	4 of 5
*COG7*	CongenitalDisorder Of Glycosylation	AR	99.94	6 of 6
*COG8*	CongenitalDisorder Of Glycosylation	AR	100	8 of 8
*COL18A1*	Glaucoma, KnoblochSyndrome	AD,AR	99.76	–
*COL4A1*	Angiopathy, Microangiopathy, Leukoencephalopathy, Porencephaly, Retinal Arteries, Hanac Syndrome, Walker-Warburg Syndrome	AD	99.99	173 of 173
*COQ2*	Coenzyme Q10 Deficiency, Multiple System Atrophy, Leigh Syndrome, Nephrotic Syndrome	AD,AR	99.61	37 of 38
*COQ4*	Coenzyme Q10 Deficiency	AR	91.05	21 of 21
*COQ8A*	Coenzyme Q10 Deficiency, Ataxia	AR	100	–
*COQ9*	Coenzyme Q10 Deficiency	AR	99.87	6 of 6
*COX10*	Leigh Syndrome, Mitochondrial Complex Iv Deficiency	AR,MI	100	13 of 13
*COX15*	Cardioence phalomyopathy, Leigh Syndrome, Leukodystrophy	AR,MI	100	5 of 5
*COX6B1*	Mitochondrial ComplexIv Deficiency	AR,MI	100	3 of 3
*CPA6*	Epilepsy, FebrileSeizures	AD,AR	99.97	9 of 9
*CPLX1*	Epileptic Encephalopathy, Wolf-Hirschhorn Syndrome	AD,AR	99.81	3 of 3
*CPT2*	Carnitine PalmitoyltransferaseIi Deficiency, Encephalopathy	AD,AR	99.99	116 of 116
*CRH*	Epilepsy, Conn Syndrome, Depression	–	99.84	1 of 2
*CSF1R*	BrainAbnormalities, Gliosis	AD,AR	100	122 of 124
*CSNK2B*	Poirier- Bienvenu Neurodevelopmental Syndrome	AD	99.98	14 of 17
*CSTB*	Epilepsy, Hypohidrotic Ectodermal Dysplasia, Unverricht-Lundborg Disease	AR	100	14 of 14
*CTC1*	Cerebroretinal Microangiopathy, DyskeratosisCongenita	AR	99.73	43 of 44
*CTNND2*	Benign Adult Familial Myoclonic Epilepsy	–	94.3	10 of 12
*CTSA*	Neuraminidase Deficiency, Galactosialidosis	AR	100	40 of 40
*CTSD*	CeroidLipofuscinosis	AR	100	18 of 18
*CTSF*	CeroidLipofuscinosis	AR	92.18	12 of 12
*CUL4B*	Mental Retardation, Short Stature, Musclewasting	X,XR,G	99.77	–
*CUX2*	Epileptic Encephalopathy, Lennox-Gastaut Syndrome	AD	99.72	2 of 2
*CYFIP2*	Epileptic Encephalopathy	AD	100	8 of 8
*CYP27A1*	Cerebrotendinous Xanthomatosis	AR	100	118 of 118
*D2HGDH*	D-2-Hydroxyglutaric Aciduria	AR	100	42 of 42
*DARS1*	Hypomyelination	AR	99.99	18 of 18
*DARS2*	Leuko encephalopathy	AR	100	65 of 65
*DCX*	Lissencephaly	X,G	100	–
*DDC*	Amino Acid Decarboxylase Deficiency	AR	100	59 of 59
*DDX3X*	Intellectual Developmental Disorder	X,XR,XD,G	99.03	–
*DEAF1*	Dyskinesia, Seizures, Intellectual Developmental Disorder, Smith- Magenis Syndrome	AD,AR	93.55	42 of 42
*DEGS1*	Leukodystrophy	AR	86.16	12 of 14
*DENND5A*	Epileptic Encephalopathy	AR	100	9 of 9
*DEPDC5*	Epilepsy	AD	100	127 of 127
*DHCR7*	Smith-Lemli- OpitzSyndrome	AR	100	217 of 217
*DHDDS*	Developmental Delay, Seizures, Retinitis Pigmentosa, Epileptic Encephalopathy	AD,AR	96.32	8 of 8
*DHFR*	Megaloblastic Anemia, Dihydrofolate Reductase Deficiency	AR	99.7	4 of 4
*DHPS*	Neurodevelopmenta Disorder, Seizures	AR	99.85	4 of 4
*DIAPH1*	Deafness, Seizures	AD,AR	99.94	15 of 15
*DLD*	Pyruvate Dehydrogenase Deficiency	AR	100	26 of 26
*DNAJC5*	Ceroid Lipofuscinosis	AD	100	2 of 2
*DNM1*	Epileptic Encephalopathy, Lennox-Gastaut Syndrome	AD	94.8	30 of 30
*DNM1L*	Encephalopathy, OpticAtrophy	AD,AR	100	29 of 29
*DOCK7*	EpilepticEncephalopathy, Cortical Blindness	AR	99.95	11 of 11
*DOLK*	Congenital Disorder Of Glycosylation, Dilated Cardiomyopathy	AR	99.98	13 of 13
*DPAGT1*	Congenital Disorder Of Glycosylation, Myasthenic Syndrome	AR	100	41 of 41
*DPM1*	CongenitalDisorder Of Glycosylation	AR	97.25	9 of 9
*DPM2*	Congenital Disorder Of Glycosylation, Muscular Dystrophy, Intellectual Disability, Epilepsy	AR	99.87	2 of 2
*DPYD*	Dihydropyrimidine Dehydrogenase Deficiency, 1p21.3 MicrodeletionSyndrome	AR	100	74 of 75
*DPYS*	Dihydropyrimidinuria	AR	100	31 of 31
*DYNC1H1*	Charcot-Marie-Tooth Disease, Mental Retardation, Spinal Muscular Atrophy	AD	100	104 of 104
*DYRK1A*	Mental Retardation	AD	99.85	78 of 81
*EARS2*	Oxidative Phosphorylation Deficiency	AR	98.8	31 of 31
*ECHS1*	Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency, Leigh Syndrome, Leukodystrophy	AR	100	39 of 39
*ECM1*	LipoidProteinosis	AR	99.99	64 of 64
*EEF1A2*	EpilepticEncephalopathy, Mental Retardation	AD	100	14 of 14
*EFHC1*	Epilepsy	AD	100	38 of 39
*EHMT1*	KleefstraSyndrome	AD	98.58	58 of 75
*EIF2B1*	Leukoencephalopathy, Vanishing White Matter	AR	100	9 of 9
*EIF2B2*	Leukoencephalopathy, Vanishing White Matter	AR	100	30 of 30
*EIF2B3*	Leukoencephalopathy, Vanishing White Matter	AR	97.55	26 of 26
*EIF2B4*	Leukoencephalopathy, Vanishing White Matter	AR	100	31 of 31
*EIF2B5*	Leukoencephalopathy, Vanishing White Matter	AR	100	99 of 99
*EIF3F*	Intellectual Developmental Disorder	AR	99.99	1 of 1
*EMX2*	Schizencephaly	–	100	5 of 5
*EPM2A*	LaforaDisease	AR	89.2	63 of 70
*EPRS1*	Leukodystrophy	AR	99.62	6 of 6
*ETFA*	Acyl-Coa Dehydrogenase Deficiency	AR	92.33	32 of 32
*ETFB*	Acyl-Coa Dehydrogenase Deficiency	AR	100	21 of 21
*ETFDH*	Acyl-Coa Dehydrogenase Deficiency	AR	100	221 of 222
*ETHE1*	Encephalopathy	AR	100	32 of 33
*FA2H*	Spastic Paraplegia, Fatty Acid Hydroxylase- Associated Neurodegeneration	AR	88.77	60 of 62
*FAM126A*	Hypomyelination, CongenitalCataract	AR	100	11 of 12
*FAR1*	Fatty Acyl-Coa Reductase 1 Deficiency	AR	98.77	4 of 4
*FARS2*	Oxidative Phosphorylation Deficiency, Spastic Paraplegia	AR	99.98	23 of 23
*FASN*	FattyLiverDisease	–	100	6 of 6
*FCSK*	CongenitalDisorder Of Glycosylation	AR	97.99	–
*FDFT1*	SqualeneSynthase Deficiency	AR	99.77	3 of 4
*FDX2*	MitochondrialMyopathy, Leukoencephalopathy	AR,MI	100	–
*FGD1*	Aarskog-Scott Syndrome	X,XR,G	98.95	–
*FGF12*	EpilepticEncephalopathy	AD	99.98	4 of 6
*FGFR3*	Achondroplasia, Hypochondroplasia, Camptodactyly, CrouzonSyndrome, Epidermal Nevus, Lacrimoauricul odentodigital Syndrome, MuenkeSyndrome, Thanatophoric Dysplasia, IsolatedBrachycephaly, IsolatedPlagiocephaly, Saethre-Chotzen Syndrome	AD,AR	99.89	77 of 78
FH	FumaraseDeficiency, Leiomyomatosis	AD,AR	100	229 of 232
*FKRP*	Dystroglycanopathy, Limb-Girdle Muscular Dystrophy, Muscle- Eye-Brain Disease, Walker-Warburg Syndrome	AR	99.9	157 of 157
*FKTN*	Cardiomyopathy, Dystroglycanopathy, Limb-Girdle Muscular Dystrophy, Muscle- Eye-Brain Disease, Walker-Warburg Syndrome	AR	98	54 of 56
*FLNA*	Cardiac Valvular Dysplasia, FgSyndrome, Frontometaphyseal Dysplasia, Heterotopia, Intestinal Pseudoobstruction, Melnick-NeedlesSyndrome, OtopalatodigitalSyndrome, Terminal OsseousDysplasia, Short BowelSyndrome, Ehlers-Danlos Syndrome	X,XR,XD,G	100	–
*FOLR1*	Neurodegeneration	AR	100	19 of 23
*FOXG1*	Rett Syndrome, 14q12 Microdeletion Syndrome	AD	88.71	93 of 109
*FOXRED1*	Mitochondrial Complex I Deficiency, Leigh Syndrome, Leukodystrophy	AR	100	13 of 13
*FRRS1L*	EpilepticEncephalopathy, IntellectualDisability	AR	85.58	7 of 7
*FUCA1*	Fucosidosis	AR	100	31 of 32
*FUT8*	Congenital Disorder Of Glycosylation, Fucosylation	AR	99.73	4 of 4
*GABBR2*	Epileptic Encephalopathy, Neurodevelopmental Disorder, Rett Syndrome	AD	95.98	7 of 7
*GABRA1*	EpilepticEncephalopathy, DravetSyndrome	AD	100	45 of 46
*GABRA2*	Alcohol Dependence, Epileptic Encephalopathy	AD,MU	99.08	3 of 3
*GABRA3*	ThyrotoxicPeriodic Paralysis	–	99.91	–
*GABRA5*	Epileptic Encephalopathy	AD	99.94	9 of 9
*GABRB1*	Epileptic Encephalopathy	AD	99.98	9 of 9
*GABRB2*	Epileptic Encephalopathy	AD	99.19	16 of 19
*GABRB3*	EpilepticEncephalopathy, Lennox-Gastaut Syndrome	AD	100	54 of 62
*GABRD*	Epilepsy, 1p36 DeletionSyndrome	AD		3 of 3
*GABRG2*	EpilepticEncephalopathy, DravetSyndrome	AD	99.67	53 of 53
*GAL*	Epilepsy	AD	100	1 of 1
*GALC*	KrabbeDisease	AR	99.38	252 of 254
*GAMT*	Cerebral Creatine DeficiencySyndrome, Guanidinoacetate Methyltransferase Deficiency	AR	99.92	60 of 60
*GATM*	Cerebral Creatine Deficiency Syndrome , Fanconi Renotubular Syndrome	AD,AR	99.98	21 of 21
*GCDH*	Glutaric Acidemia, Glutaryl-Coa Dehydrogenase Deficiency	AR	88.74	254 of 254
*GCH1*	Dystonia, GtpCyclohydrolase I Deficiency	AD,AR	99.41	225 of 244
*GCSH*	Glycine Encephalopathy	AR	93.52	1 of 1
*GFAP*	Alexander Disease	AD	99.98	143 of 143
*GFM1*	CombinedOxidative Phosphorylation Deficiency	AR	100	27 of 27
*GFM2*	CombinedOxidative Phosphorylation Deficiency	AR	99.35	5 of 7
*GJC2*	Leukodystrophy, Lymphedema, Spastic Paraplegia, Milroy Disease	AD,AR	95.37	52 of 63
*GLB1*	Gangliosidosis, Morquio Syndrome	AR	100	242 of 243
*GLDC*	Glycine Encephalopathy	AR	98.69	359 of 367
*GLI2*	Holoprosencephaly, Pallister-Hall Syndrome, Pituitary Hormone Deficiencies	AD	98.38	83 of 88
*GLI3*	GreigCephalopolysyndactyly Syndrome, Hypothalamic Hamartomascongenital Hypothalamic HamartomaSyndrome, Pallister-Hall Syndrome, AcrocallosalSyndrome, Tibial Hemimelia	AD,AR	100	231 of 231
*GLRA1*	Hyperekplexia	AD,AR	99.6	71 of 72
*GLRB*	Hyperekplexia	AR	99.3	16 of 18
*GLS*	Epileptic Encephalopathy, Global Developmental Delay, Infantile Cataract	AD,AR	97.77	8 of 9
*GLUD1*	Hyperinsulinemic Hypoglycemia, Hyperinsulinism- Hyperammonemia Syndrome	AD	99.98	39 of 39
*GNAO1*	EpilepticEncephalopathy, Neurodevelopmental Disorder	AD	100	47 of 47
*GNB1*	Leukemia, Mental Retardation, Global Developmental Delay	AD,MU,P	100	31 of 31
*GNE*	Nonaka Myopathy, Sialuria	AD,AR	99.97	248 of 253
*GNS*	Mucopoly saccharidosis	AR	99.92	22 of 22
*GOLGA2*	Vohwinkel Syndrome, Smith-Mccort Dysplasia	–	99.89	3 of 3
*GOSR2*	Epilepsy	AR	88.39	6 of 6
*GPAA1*	Glycosylphosphatidylinositol Biosynthesis Defect, Neurodevelopmental Delay	AR	99.98	11 of 11
*GPC3*	Simpson-Golabi-Behmel Syndrome, Wilms Tumor Nephroblastoma	AD,X,XR,G	99.84	–
*GPHN*	Hyperekplexia, Molybdenum Cofactor Deficiency	AD,AR	99.2	6 of 6
*GRIA3*	Mental Retardation	X,XR,G	98.39	–
*GRIA4*	Neurodevelopmental Disorder	AD	99.94	5 of 5
*GRIK2*	Mental Retardation	AR	96.98	5 of 6
*GRIN1*	Neurodevelopmental Disorder	AD,AR	100	43 of 43
*GRIN2A*	Epileptic Encephalopathy	AD	100	143 of 143
*GRIN2B*	Epileptic Encephalopathy, Mental Retardation, West Syndrome	AD	99.99	108 of 108
*GRIN2D*	Epileptic Encephalopathy	AD	79.74	17 of 18
*GRN*	CeroidLipofuscinosis, Frontotemporal Lobar Degeneration, SemanticDementia	AD,AR	100	220 of 229
*GTPBP3*	Oxidative Phosphorylation Deficiency	AR	99.94	17 of 17
*GUF1*	Epileptic Encephalopathy, West Syndrome	AR	99.88	4 of 4
*HACE1*	Neuroblastoma, Spastic Paraplegia, Developmental Delay, Epilepsy	AR	100	15 of 15
*HCN1*	Epileptic Encephalopathy	AD	98.43	42 of 43
*HCN2*	Epilepsy, Retinitis Pigmentosa	–	70.45	6 of 9
*HCN4*	Brugada Syndrome, SickSinusSyndrome	AD	98.01	40 of 41
*HDAC4*	2q37 Microdeletion Syndrome	–	100	10 of 10
*HECW2*	Neurodevelopmental Disorder, Hypotonia, Seizures	AD	99.85	13 of 13
*HEPACAM*	Megalencephalic Leukoencephalopathy	AD,AR	97.87	30 of 30
*HEXA*	Tay-Sachs Disease	AR	100	205 of 206
*HEXB*	Sandhoff Disease	AR	99.92	109 of 115
*HGSNAT*	Mucopolysaccharidosis, Retinitis Pigmentosa	AR	87.91	69 of 73
*HIBCH*	3-Hydroxyisobutyryl-Coa HydrolaseDeficiency, Neurodegeneration	AR	96.47	27 of 27
*HNRNPU*	EpilepticEncephalopathy, 1q44 Microdeletion Syndrome	AD	99.8	36 of 36
*HPD*	Hawkinsinuria , Tyrosinemia	AD,AR	100	10 of 10
*HRAS*	Bladder Cancer, Costello Syndrome, Epidermal Nevus, Giant Pigmented Hairy Nevus, Schimmelpenning- Feuerstein-Mims Syndrome, Linear Nevus Sebaceus Syndrome	AD	100	34 of 34
*HSD17B10*	Hydroxyacyl-Coa DehydrogenaseIi Deficiency	X,XD,G	100	–
*HSD17B4*	D-Bifunctional Protein Deficiency, Perrault Syndrome	AR	99.52	85 of 85
*HSPD1*	Leukodystrophy SpasticParaplegia	AD,AR	100	7 of 7
*HTRA1*	Cerebral Arteriopathy, Leukoencephalopathy	AD,AR	87.47	55 of 57
*HTT*	Huntington Disease, Lopes-Maciel-Rodan Syndrome	AD,AR	99	–
*IBA57*	Multiple Mitochondrial Dysfunctions Syndrome, Spastic Paraplegia	AR	93.35	25 of 27
*IDH2*	D-2-Hydroxyglutaric Aciduria, Maffucci Syndrome, Ollier Disease	AD	99.99	4 of 4
*IDS*	Mucopolysaccharidosis	X,XR,G	99.86	–
*IER3IP1*	Microcephaly, Epilepsy	AR	99.97	5 of 5
*IQSEC2*	Mental Retardation, Microduplication Xp11.22p11.23 Syndrome, Smith- Magenis Syndrome	X,XR,XD,G	99.73	–
*IRF2BPL*	Neurodevelopmental Disorder, Seizures	AD	95.01	24 of 25
*ITPA*	Epileptic Encephalopathy	AR	100	5 of 6
*JMJD1C*	22q11.2 Deletion Syndrome	–	99.09	27 of 27
*JRK*	Epilepsy	–	–	–
*KANSL1*	Koolen-De Vries Syndrome	AD	96.03	22 of 27
*KCNA1*	Ataxia, Epileptic Encephalopathy, Continuous Muscle Fiber Activity, Paroxysmal Kinesigenic Dyskinesia	AD	100	49 of 49
*KCNA2*	Epileptic Encephalopathy	AD	99.86	23 of 23
*KCNAB2*	1p36 Deletion Syndrome	–	79	3 of 3
*KCNB1*	Epileptic Encephalopathy	AD	99.95	55 of 55
*KCNC1*	Epilepsy	AD	99.87	10 of 10
*KCND2*	Autism, Epileptic Encephalopathy	–	100	4 of 4
*KCNH1*	Temple-Baraitser Syndrome, Zimmermann-Laband Syndrome	AD	99.69	15 of 15
*KCNH2*	Long Qt Syndrome, Short Qt Syndrome, Romano-Ward Syndrome	AD	98.69	908 of 930
*KCNH5*	Epileptic Encephalopathy, Neuropathy	–	98.72	1 of 1
*KCNJ10*	Enlarged Vestibular Aqueduct, Pendred Syndrome, Seizures, East Syndrome	AR	93.53	27 of 32
*KCNJ11*	Diabetes Mellitus, Hyperinsulinemic Hypoglycemia, Maturity-Onset Diabetes Of The Young, Hyperinsulinism, Dend Syndrome	AD,AR	100	190 of 191
*KCNK4*	Facial Dysmorphism, Epilepsy, Gingival Overgrowth	AD	94.93	2 of 2
*KCNMA1*	Cerebellar Atrophy, Epilepsy, Paroxysmal Dyskinesia, Liang-Wang Syndrome	AD,AR	99.98	24 of 26
*KCNQ2*	Epileptic Encephalopathy	AD	99.94	333 of 334
*KCNQ3*	Epilepsy	AD	97.94	40 of 40
*KCNQ5*	Mental Retardation	AD	95.08	8 of 8
*KCNT1*	Epileptic Encephalopathy	AD	95.98	64 of 64
*KCNT2*	Epileptic Encephalopathy	AD	98.26	4 of 4
*KCNV2*	Retinal ConeDystrophy	AR	99.98	86 of 88
*KCTD3*	Variegate Porphyria , Niemann- Pick Disease	–	96.19	2 of 2
*KCTD7*	Epilepsy	AR	99.99	40 of 40
*KDM5C*	Mental Retardation	X,XR,G	100	–
*KDM6A*	Kabuki Syndrome	AD,X,XD,G	99.98	–
*KIF1A*	Mental Retardation, Neuropathy, Spastic Paraplegia, Peho Syndrome	AD,AR	100	76 of 76
*KIFBP*	Goldberg- ShprintzenSyndrome	AR	99.27	–
*KMT2D*	Kabuki Syndrome	AD	99.71	839 of 847
*KMT2E*	O’donnell-Luria- Rodan Syndrome, Intellectual Disability	AD	99.83	34 of 34
*KPNA7*	CerebellarMalformation, Cerebellar Vermis Hypoplasia	–	100	3 of 3
*KRAS*	Aplasia Cutis Congenita, Cardiofaciocutaneous Syndrome, Leukemia, Noonan Syndrome, Autoimmune Lymphoproliferative Syndrome, Schimmelpenning- Feuerstein-MimsSyndrome, Encephalocraniocutaneous Lipomatosis, Linear Nevus SebaceusSyndrome, Lynch Syndrome, Toriello-Lacassie- DrosteSyndrome	AD	100	38 of 38
*L2HGDH*	L-2-Hydroxyglutaric Aciduria	AR	100	72 of 73
*LAMA2*	Limb-Girdle Muscular Dystrophy	AR	100	363 of 377
*LBR*	Hydrops-Ectopic Calcification-Moth- Eaten Skeletal Dysplasia, Pelger-Huet Anomaly, Reynolds Syndrome, Greenberg Dysplasia, Reynolds Syndrome	AD,AR	99.98	34 of 34
*LGI1*	Epilepsy	AD	99.94	54 of 54
*LIAS*	Pyruvate Dehydrogenase LipoicAcidSynthetase Deficiency	AR	99.82	8 of 8
*LMNB1*	Leukodystrophy	AD	99.66	4 of 4
*LMNB2*	Barraquer-Simons Syndrome, Epilepsy, Acquired Partial Lipodystrophy	AD,AR	95.03	5 of 5
*LNPK*	Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	AR	99.26	–
*LRPPRC*	Leigh Syndrome	AR	98.94	18 of 18
*LYRM7*	Mitochondrial ComplexIii Deficiency	AR	99.86	9 of 9
*MACF1*	Lissencephaly	AD	99.94	18 of 18
*MAGI2*	Nephrotic Syndrome	AR	93.82	7 of 9
*MAP2K1*	Cardiofaciocutaneous Syndrome, Melorheostosis, Noonan Syndrome	AD	100	31 of 31
*MAP2K2*	Cardiofaciocutaneous Syndrome, Neurofibromatosis- Noonan Syndrome	AD	100	37 of 37
*MAPK10*	Lennox- GastautSyndrome	–	99.97	–
*MARCHF6*	Epilepsy	AD	99.97	–
*MARS2*	Ataxia, Oxidative Phosphorylation Deficiency, Spastic Ataxia With Leukoencephalopathy	AR	99.94	3 of 3
*MBD5*	2q23.1 Microdeletion Syndrome	AD	99.99	33 of 35
*MBOAT7*	Mental Retardation	AR	99.08	11 of 12
*MCOLN1*	Mucolipidosis	AR	99.99	34 of 36
*MCPH1*	Microcephaly	AR	99.51	18 of 19
*MDH2*	EpilepticEncephalopathy, Pheochromocytoma- Paraganglioma	AR	98	11 of 11
*ME2*	Epilepsy, Li- FraumentiSyndrome	–	99.99	1 of 1
*MECP2*	Autism, Encephalopathy, Lubs Mental Retardation Syndrome, Rett Syndrome, Trisomy Xq28	X,XR,XD,MU,G	99.81	–
*MED12*	Lujan-Fryns Syndrome, Ohdo Syndrome, Opitz- Kaveggia Syndrome, Blepharophimosis- Intellectual Disability Syndrome, Fg Syndrome	X,XR,G	100	–
*MED17*	Microcephaly	AR	100	9 of 9
*MEF2C*	Mental Retardation, Stereotypic Movements, Epilepsy, Cerebralmalformations, 5q14.3 Microdeletion Syndrome	AD	99.91	43 of 46
*MFSD8*	CeroidLipofuscinosis, Macular Dystrophy	AR	100	63 of 63
*MGAT2*	CongenitalDisorder Of Glycosylation	AR	97.19	5 of 5
*MICAL1*	Epilepsy	AD	99.98	3 of 3
*MIPEP*	CombinedOxidative Phosphorylation Deficiency	AR	99.84	7 of 8
*MLC1*	Megalencephalic Leukoencephalopathy	AR	100	104 of 106
*MOCS1*	Molybdenum Cofactor Deficiency	AR	100	36 of 37
*MOCS2*	Molybdenum Cofactor Deficiency	AR	100	32 of 32
*MOGS*	CongenitalDisorder Of Glycosylation	AR	100	10 of 10
*MPDU1*	CongenitalDisorder Of Glycosylation	AR	100	7 of 7
*MRPL44*	Oxidative Phosphorylation Deficiency	AR	99.75	2 of 2
*MTFMT*	Oxidative Phosphorylation Deficiency, Mitochondrial Complex I Deficiency, Leigh Syndrome With Leukodystrophy	AR	99.52	18 of 18
*MTHFR*	Homocystinuria, Neural Tube Defects, Schizophrenia, Thrombophiliavenous Thromboembolism, Isolated Anencephaly , Isolated Exencephaly	AD,AR	100	122 of 122
*MTHFS*	Neurodevelopmental Disorder With Microcephaly, Epilepsy, Hypomyelination	AR	100	5 of 5
*MTOR*	Dysplasia Of Taylor, Smith-Kingsmore Syndrome, Macrocephaly- Intellectual Disability- Neurodevelopmental Disorder-Small Thorax Syndrome	AD	99.98	39 of 39
*NACC1*	Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, Delayed Brain Myelination	AD	99.99	3 of 3
*NAGLU*	Charcot-Marie-Tooth Disease, Mucopoly saccharidosis	AD,AR	93.23	194 of 222
*NBEA*	Autism, Oxidative Phosphorylation Deficiency	–	99.48	27 of 27
*NDE1*	Lissencephaly, Microhydranencephaly	AR	86.55	12 of 13
*NDST1*	Mental Retardation	AR	99.99	11 of 11
*NDUFA1*	MitochondrialComplex I Deficiency	X,XR,G	100	–
*NDUFA2*	Mitochondrial Complex I Deficiency, Leigh Syndrome With Leukodystrophy	AR	99.84	2 of 3
*NDUFAF3*	Mitochondrial Complex I Deficiency, Leigh Syndrome With Cardiomyopathy	AR	100	9 of 9
*NDUFAF5*	Mitochondrial Complex I Deficiency, Leigh Syndrome With Leukodystrophy	AR	100	13 of 14
*NDUFAF6*	Fanconi Renotubular Syndrome, Mitochondrial Complex I Deficiency, Leigh Syndrome With Leukodystrophy	AR	99.4	12 of 13
*NDUFS1*	Mitochondrial Complex I Deficiency, Leigh Syndrome With Leukodystrophy	AR	99.98	30 of 30
*NDUFS2*	Mitochondrial Complex I Deficiency, Leber Hereditary Optic Neuropathy, Leigh Syndrome With Cardiomyopathy, Leukodystrophy	AR	100	26 of 26
*NDUFS3*	Mitochondrial Complex I Deficiency, Leigh Syndrome With Leukodystrophy	AR	93.67	4 of 4
*NDUFS4*	Mitochondrial Complex I Deficiency, Leigh Syndrome With Leukodystrophy	AR,X,XD,MI,G	100	15 of 15
*NDUFS6*	MitochondrialComplex I Deficiency	AR	100	6 of 6
*NDUFS7*	Mitochondrial Complex I Deficiency, Leigh Syndrome With Leukodystrophy	AR	88	6 of 7
*NDUFS8*	Mitochondrial Complex I Deficiency, Leigh Syndrome With Leukodystrophy	AR	100	16 of 16
*NDUFV1*	Mitochondrial Complex I Deficiency, Leigh Syndrome With Leukodystrophy	AR	100	36 of 36
*NECAP1*	EpilepticEncephalopathy	AR	99.83	2 of 2
*NEDD4L*	Periventricular Nodular Heterotopia	AD	97.61	10 of 10
*NEU1*	NeuraminidaseDeficiency, Sialidosis	AR	100	68 of 68
*NEUROD2*	Epileptic Encephalopathy	AD	96.88	2 of 2
*NEXMIF*	Mental Retardation	X,XR,XD,G	99.74	–
*NF1*	JuvenileMyelomonocytic Leukemia, Neurofibromatosis- NoonanSyndrome, Watson Syndrome, 17q11.2 MicroduplicationSyndrome, Pheochromocytoma- Paraganglioma	AD	97.97	3082 of 3166
*NFU1*	MultipleMitochondrial Dysfunctions Syndrome	AR	100	13 of 15
*NGLY1*	Congenital Disorder Of Glycosylation, Alacrimia- Choreoathetosis- Liver Dysfunction Syndrome	AR		28 of 28
*NHLRC1*	LaforaDisease	AR	100	71 of 71
*NIPBL*	Cornelia De Lange Syndrome	AD	99.32	409 of 426
*NKX6-2*	Spastic Ataxia, Hypomyelinating Leukodystrophy	AR	82.95	8 of 9
*NOTCH3*	Cerebral Arteriopathy, Leukoencephalopathy, Lateral Meningocele Syndrome, Myofibromatosis, Myofibromatosis	AD	96.31	398 of 399
*NPC1*	Niemann-Pick Disease	AR	97	503 of 505
*NPC2*	Niemann-Pick Disease	AR	100	27 of 27
*NPHP1*	Joubert Syndrome, Nephronophthisis, Senior-Loken Syndrome, Bardet- Biedl Syndrome, Joubert Syndrome With Renal Defect	AR	100	58 of 59
*NPRL2*	Epilepsy	AD	100	12 of 12
*NPRL3*	Epilepsy	AD	99.61	18 of 18
*NR2F1*	Bosch-Boonstra Optic Atrophy Syndrome	AD	89.78	26 of 31
*NRXN1*	Pitt-Hopkins- LikeSyndrome	AR	97.42	33 of 74
*NSD1*	Sotos Syndrome, 5q35 Microduplication Syndrome, Weaver Syndrome	AD	99.8	451 of 459
*NT5C2*	SpasticParaplegia	AR	97.89	6 of 7
*NTNG1*	Atypical Rett Syndrome	–	99.96	2 of 2
*NTRK2*	Epileptic Encephalopathy, Obesity, Hyperphagia, Developmental Delay, West Syndrome	AD	100	9 of 9
*NUBPL*	MitochondrialComplex I Deficiency	AR	95.2	13 of 13
*NUS1*	Congenital Disorder Of Glycosylation, Mental Retardation, Epileptic Encephalopathy	AD,AR	99.62	22 of 23
*OFD1*	Joubert Syndrome, Orofaciodigital Syndrome, Retinitis Pigmentosa, Simpson-Golabi-Behmel Syndrome, Primary Ciliary Dyskinesia	X,XR,XD,G	98.09	–
*OPHN1*	Mental Retardation, CerebellarHypoplasia, Distinctivefacial Appearance	X,XR,G	100	–
*P4HTM*	Hypotonia, Hyperventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, Eye Abnormalities	AR	92.81	5 of 5
*PACS1*	Intellectual Disability- Craniofacial Dysmorphism- Cryptorchidism Syndrome	AD	97.98	3 of 3
*PACS2*	Epileptic Encephalopathy	AD	99.52	3 of 3
*PAFAH1B1*	17p13.3 Microduplication Syndrome, Lissencephaly, Miller-Dieker Syndrome	AD	99.95	90 of 92
*PAK3*	Mental Retardation	X,XR,G	99.96	–
*PANK2*	Hypoprebetalipo proteinemia, Acanthocytosis, Retinitis Pigmentosa, Pallidal Degeneration, Neurodegeneration, Pantothenate Kinase- Associated Neurodegeneration	AR	98.92	177 of 182
*PARS2*	Epileptic Encephalopathy	AR	100	7 of 7
PC	PyruvateCarboxylase Deficiency	AR	100	48 of 48
*PCDH19*	Epilepsy, DravetSyndrome	X,G	99.99	–
*PCNT*	Microcephalic Osteodysplastic Primordial Dwarfism, Seckel Syndrome	AR	99.92	103 of 105
*PDHA1*	Pyruvate Decarboxylase Deficiency, Leigh Syndrome With Leukodystrophy	X,XD,G	99.02	–
*PDSS2*	Coenzyme Q10 Deficiency, Leigh Syndrome With Nephrotic Syndrome	AR	99.99	6 of 6
*PEX1*	Hearing Loss With Enamel Hypoplasia And Nail Defects, Peroxisome Biogenesis Disorder, Zellweger Syndrome, Refsum Disease, Neonatal Adrenoleukodystrophy	AR	97.02	126 of 134
*PEX10*	Zellweger Syndrome, Refsum Disease, Neonatal Adrenoleukodystrophy	AR	99.76	29 of 32
*PEX12*	Zellweger Syndrome, Refsum Disease, Neonatal Adrenoleukodystrophy	AR	100	38 of 38
*PEX14*	Refsum Disease, Neonatal Adrenoleukodystrophy, Zellweger Syndrome	AR	100	4 of 4
*PEX2*	Refsum Disease, Neonatal Adrenoleukodystrophy, Zellweger Syndrome	AR	99.89	17 of 17
*PEX26*	Refsum Disease, Neonatal Adrenoleukodystrophy, Zellweger Syndrome	AR	100	29 of 29
*PEX3*	Refsum Disease, Neonatal Adrenoleukodystrophy, Zellweger Syndrome	AR	100	9 of 9
*PEX5*	Adrenoleukodystrophy, Cerebrohepatorenal Syndrome, Rhizomelic Chondrodysplasia Punctata, Refsum Disease, ZellwegerSyndrome	AR	100	12 of 12
*PEX6*	HeimlerSyndrome, Spinocerebellar Ataxia- Blindness-Deafness Syndrome, Deafness- EnamelHypoplasia- NailDefectsSyndrome, RefsumDisease, Neonatal Adrenoleukodystrophy, ZellwegerSyndrome	AD,AR	99.94	105 of 108
*PEX7*	ZellwegerSyndrome, Rhizomelic Chondrodysplasia Punctata, RefsumDisease	AR	99.21	47 of 53
*PGK1*	Phosphoglycerate Kina se 1 Deficiency, Glycogen Storage Disease	X,XR,G	100	–
*PHACTR1*	Epileptic Encephalopathy, West Syndrome	AD	99.89	5 of 5
*PHF6*	Borjeson-Forssman- Lehmann Syndrome	X,XR,G	99.93	–
*PIGA*	Paroxysmal Nocturnal Hemoglobinuria, West Syndrome	X,XR,G	97.98	–
*PIGB*	Epileptic Encephalopathy	AR	99.97	10 of 10
*PIGC*	Glycosyl phosphatidylinositol BiosynthesisDefect	AR	99.59	4 of 4
*PIGG*	Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	AR	99.86	6 of 6
*PIGN*	Fryns Syndrome, Multiple Congenital Anomalies-Hypotonia- Seizures Syndrome	AR	93.97	36 of 39
*PIGO*	Hyperphosphatasia With Mental Retardation Syndrome	AR	99.93	21 of 21
*PIGP*	Epileptic Encephalopathy	AR	99.98	2 of 2
*PIGQ*	Epileptic Encephalopathy	AR	99.99	4 of 4
*PIGS*	Glycosylphos phatidylinositol Biosynthesis Defect	AR	100	6 of 6
*PIGT*	Paroxysmal Nocturnal Hemoglobinuria, Intellectual Disability- Seizures- Hypophosphatasia- Ophthalmic-Skeletal Anomalies Syndrome	AD,AR	100	15 of 15
*PIGV*	Hyperphosphatasia- Intellectual Disability Syndrome	AR	99.99	16 of 16
*PIGW*	Hyperphosphatasia- IntellectualDisability Syndrome	AR	99.52	6 of 6
*PIK3AP1*	Bissinosis, Central Nervous System Tuberculosis	–	99.98	5 of 5
*PITRM1*	Alzheimer Disease, Berylliosis	–	100	3 of 3
*PLA2G6*	Neuroaxonal Dystrophy, Neurodegeneration With Brain Iron Accumulation, Parkinson Disease	AR	99.94	190 of 191
*PLAA*	Neurodevelopmental Disorder, Microcephaly, Spasticity	AR	99.41	6 of 6
*PLCB1*	Epileptic Encephalopathy, West Syndrome	AR	99.92	4 of 6
*PLP1*	Pelizaeus- Merzbacher Disease, Spastic Paraplegia	X,XR,G	100	–
*PLPBP*	Epilepsy	AR	100	–
*PMM2*	CongenitalDisorder Of Glycosylation	AR	100	127 of 129
*PMPCB*	MultipleMitochondrial DysfunctionsSyndrome	AR	99.46	5 of 5
*PNKD*	Paroxysmal Nonkinesigenic Dyskinesia	AD	99.98	6 of 6
*PNKP*	Ataxia-Oculomotor Apraxia, Charcot- Marie-Tooth Disease, Epileptic Encephalopathy	AR	100	36 of 36
*PNPO*	Pyridoxamine 5-Prime- Phosphate Oxidase Deficiency, Pyridoxal Phosphate- Responsive Seizures	AR	99.99	31 of 31
*POLG*	MitochondrialDna DepletionSyndrome, External Ophthalmoplegia WithMitochondrial DnaDeletions, SensoryAtaxic Neuropathy, Dysarthria, Ophthalmoparesis, Alpers-Huttenlocher Syndrome, Mitochondrial Neurogastrointestinal Encephalomyopathy	AD,AR	99.92	325 of 326
*POLR3A*	Leukodystrophy, Progeroid Syndrome, Tremor-Ataxia-Central Hypomyelination Syndrome, Wiedemann- Rautenstrauch Syndrome	AR	100	122 of 122
*POLR3B*	Leukodystrophy, Hypomyelination- Hypogonadotropic Hypogonadism- Hypodontia Syndrome	AR	100	61 of 61
*POMGNT1*	Muscular Dystrophy- Dystroglycanopathy, Retinitis Pigmentosa, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome	AR	99.91	82 of 83
*POMT1*	Limb-Girdle Muscular Dystrophy- Dystroglycanopathy, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome	AR	100	105 of 105
*POMT2*	Limb-Girdle Muscular Dystrophy- Dystroglycanopathy, Muscle-Eye-Brain Disease, Walker- Warburg Syndrome	AR		74 of 74
*PPP2CA*	Neurodevelopmental Disorder And Language Delay	AD	99.9	14 of 14
*PPP3CA*	Arthrogryposis, Cleft Palate, Craniosynostosis, Impaired Intellectual Development, Epileptic Encephalopathy	AD	99.98	16 of 16
*PPT1*	Ceroid Lipofuscinosis	AR	100	81 of 81
*PQBP1*	Renpenning Syndrome, Hamel Cerebro -Palato-Cardiac Syndrome	X,XR,G	99.99	–
*PRDM8*	Epilepsy, LaforaBody Disease	AR	89.24	1 of 1
*PRICKLE1*	Epilepsy, Unverricht- LundborgDisease	AR	98.41	23 of 23
*PRICKLE2*	Epilepsy	–	94.92	6 of 6
*PRIMA1*	MiocardialInfarction, Ichthyosis	–	99.59	1 of 1
*PRODH*	Hyperprolinemia, Schizophrenia	AD,AR	98.57	5 of 5
*PRRT2*	Convulsions, Dyskinesia, Epilepsy, Hemiplegic Migraine	AD	99.93	111 of 111
*PSAP*	Saposin Deficiency, Gaucher Disease, Krabbe Disease, Metachromatic Leukodystrophy, Encephalopathy	AR	100	33 of 33
*PTCH1*	Basal Cell Carcinoma, Basal Cell Nevus Syndrome, Holoprosencephaly, Gorlin Syndrome, Monosomy 9q22.3	AD	98.89	498 of 502
*PTEN*	Cowden Disease, Autism, Meningioma, Bannayan-Riley- Ruvalcaba Syndrome, Juvenile Polyposis Of Infancy, Lhermitte- Duclos Disease, Proteus Syndrome, Segmental Outgrowth- Lipomatosis- Arteriovenous Malformation- Epidermal Nevus Syndrome	AD	99.97	609 of 629
*PTPN11*	Myelomonocytic Leukemia, LeopardSyndrome, Metachondromatosis NoonanSyndrome	AD	100	150 of 151
*PTPN23*	Neurodevelopmental Disorder And Structural Brain Anomalies	AR	99.99	17 of 17
*PTS*	6-Pyruvoyl- Tetrahydropterin SynthaseDeficiency	AR	99.97	108 of 112
*PUM1*	Spinocerebellar Ataxia	AD	99.98	8 of 8
*PURA*	Mental Retardation	AD	85.36	59 of 65
*PYCR2*	Leukodystrophy, Leukoence phalopathy	AR	98.29	14 of 14
*QARS*	Microcephaly	–	100	12 of 12
*QDPR*	Phenylketonuria, Dihydropteridine Reductase Deficiency	AR	100	66 of 67
*RAB39B*	Mental Retardation, Parkinsonism	X,XR,G	100	–
*RAB3GAP1*	Warburg Micro Syndrome, Cataract- Intellectual Disability- Hypogonadism Syndrome	AR	99.94	70 of 70
*RAI1*	Smith-Magenis Syndrome, 17p11.2 Microduplication Syndrome, Gene Duplication Syndrome	AD	99.91	50 of 53
*RALA*	Tuberculosos, MyocardialInfarction	–	99.94	7 of 7
*RANBP2*	Necrotizing Encephalopathy	AD	99.41	9 of 9
*RARS1*	Leukodystrophy	AR	99.64	28 of 28
*RARS2*	Pontocerebellar Hypoplasia	AR	99.98	39 of 40
*RBFOX1*	Epilepsy, Spinocerebellar Ataxia, Developmental Coordination Disorder	–	97.99	4 of 5
*RBFOX3*	Epilepsy, EctodermalDysplasia	–	88.9	1 of 1
*RELN*	Epilepsy, Lissencephaly	AD,AR	100	70 of 70
*RFT1*	CongenitalDisorder Of Glycosylation	AR	99.98	18 of 18
*RHOBTB2*	Epileptic Encephalopathy	AD	100	6 of 6
*RMND1*	CombinedOxidative Phosphorylation Deficiency	AR	99.67	15 of 16
*RNASEH2A*	Aicardi-Goutieres Syndrome	AR	100	23 of 23
*RNASEH2B*	Aicardi-Goutieres Syndrome	AR	99.95	41 of 41
*RNASEH2C*	Aicardi-Goutieres Syndrome	AR	100	14 of 14
*RNASET2*	Leukoencephalopathy	AR	100	11 of 13
*RNF13*	Epileptic Encephalopathy	AD	99.88	2 of 2
*RNF216*	Cerebellar Ataxia- Hypogonadism Syndrome	AR	99.89	15 of 15
*RNR1*	MERRF (Myoclonus Epilepsy Associated With Ragged-Red Fibres)	–	–	–
*ROGDI*	Kohlschutter-Tonz Syndrome, Amelocere brohypohidrotic Syndrome	AR	99.83	10 of 12
*RORA*	Intellectual Developmental Disorder, Epilepsy, Cerebellar Ataxia	AD	99.94	12 of 12
*RORB*	Epilepsy	AD	99.98	4 of 4
*RPGRIP1L*	Coach Syndrome, Joubert Syndrome, Meckel Syndrome, Joubert Syndrome	AR	99.96	52 of 52
*RUBCN*	Spinocerebellar And Cerebellar Ataxia	AR	99.96	–
*RYR3*	Deafness	–	99.98	20 of 20
*SAMD12*	Epilepsy	AD	99.74	–
*SAMHD1*	Aicardi-Goutieres Syndrome	AD,AR	100	51 of 51
*SATB2*	Chromosome 2q32- Q33 Deletion Syndrome	AD	99.87	97 of 124
*SCARB2*	Action Myoclonus- Renal Failure Syndrome, Gaucher Disease, Unverricht-Lundborg Disease	AR	99.95	29 of 29
*SCN10A*	Episodic Pain Syndrome, Brugada Syndrome, Paroxysmal Extreme Pain Disorder, Primary Erythromelalgia, Romano-Ward Syndrome	AD	99.89	96 of 96
*SCN1A*	Epileptic Encephalopathy, Febrile Convulsions, Migraine, Dravet Syndrome, Lennox-Gastaut Syndrome	AD	99.8	1776 of 1797
*SCN1B*	Atrial Fibrillation, Brugada Syndrome, Epileptic Encephalopathy, Dravet Syndrome, Familial Progressive Cardiac Conduction Defect	AD,AR	99.67	46 of 48
*SCN2A*	Epileptic Encephalopathy, Episodic Ataxia, Seizures , Dravet Syndrome, West Syndrome	AD	100	351 of 351
*SCN3A*	Epileptic Encephalopathy	AD	99.98	18 of 18
*SCN4A*	Hyperkalemic Periodic Paralysis, Myasthenic Syndrome, Myotonia, Paramyotonia Congenita Of Von Eulenburg, Postsynaptic Congenital Myasthenic Syndromes	AD,AR	99.77	136 of 142
*SCN5A*	Atrial Fibrillation, Brugada Syndrome, Cardiomyopathy, Long Qt Syndrome, Heart Block, Sick Sinus Syndrome, Sudden Infant Death Syndrome, Romano-Ward Syndrome	AD,AR,MU	99.45	929 of 942
*SCN8A*	Cognitive Impairment With Or Without Cerebellar Ataxia, Epileptic Encephalopathy, Myoclonus, Seizures, Infantile Convulsions And Choreoathetosis	AD	97.85	156 of 172
*SCN9A*	Erythermalgia, Epilepsy, Indifference To Pain, Neuropathy, Extreme Pain Disorder, Dravet Syndrome, Primary Erythromelalgia	AD,AR	96.25	126 of 137
*SCO1*	ComplexIv Deficiency	AR,MI	100	6 of 6
*SCO2*	Cardioence phalomyopathy, Myopia, Charcot-Marie- Tooth Disease, Leigh Syndrome With Cardiomyopathy	AD,AR	100	38 of 38
*SDHA*	Cardiomyopathy, Leigh Syndrome, Paragangliomas, Pheochromocytoma- Paraganglioma, Succinate-Coq Reductase Deficiency	AD,AR,MI	99.98	103 of 103
*SDHAF1*	Succinate-Coq Reductase Deficiency	AR	100	6 of 6
*SERAC1*	Methylglutaconic Aciduria, Deafness, Encephalopathy, Leigh-Like Syndrome	AR	99.93	53 of 53
*SERPINI1*	Encephalopathy	AD	100	9 of 9
*SETBP1*	Mental Retardation, Schinzel-Giedion Midface-Retraction Syndrome, Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	AD	98.61	43 of 43
*SETD2*	Luscan-Lumish Syndrome, Sotos Syndrome	AD	99.83	19 of 19
*SGCE*	MyoclonicDystonia	AD	99.46	94 of 98
*SGSH*	Mucopolysaccharidosis	AR	97.7	151 of 151
*SHH*	Holoprosencephaly, Microphthalmia, Schizencephaly, HypoplasticTibiae- PostaxialPolydactyly Syndrome, Radial Hemimelia, Syndactyly	AD	99.48	161 of 184
*SHOC2*	NoonanSyndrome	AD	99.98	8 of 8
*SIK1*	Myoclonic And Epileptic Encephalopathy, West Syndrome	AD	99.67	9 of 9
*SIX3*	Holoprosencephaly, Schizencephaly	AD	99.79	79 of 80
*SLC12A5*	Epileptic Encephalopathy	AD,AR	100	19 of 19
*SLC13A5*	EpilepticEnce phalopathy, Amelocerebrohy pohidrotic Syndrome	AR	95.92	24 of 24
*SLC17A5*	Infantile Sialic Acid Storage Disorder, Sialuria	AR	99.91	49 of 49
*SLC19A3*	Basal Ganglia Disease, Leigh Syndrome, Leukodystrophy	AR	100	38 of 39
*SLC1A2*	Epileptic Encephalopathy	AD	100	7 of 7
*SLC1A3*	Episodic Ataxia	AD	100	13 of 13
*SLC1A4*	SpasticTetraplegia, Microcephaly	AR	99.76	8 of 9
*SLC25A1*	D-2- And L-2- Hydroxyglutaric Aciduria, Myasthenic Syndrome	AR	90	23 of 25
*SLC25A12*	Epileptic Encephalopathy	AR	100	7 of 7
*SLC25A15*	Hyperornithinemia- Hyperammonemia- Homocitrullinuria Syndrome	AR	100	41 of 41
*SLC25A19*	Microcephaly, Thiamine Metabolism Dysfunction Syndrome	AR	97.13	10 of 10
*SLC25A22*	Epileptic Encephalopathy, Myoclonic Encephalopathy	AR	100	16 of 16
*SLC25A42*	Metabolic Crises, Encephalomyopathy	AR	99.91	2 of 2
*SLC2A1*	Choreoathetosis, Epilepsy, Glucose Transport Defect, Stomatin-Deficient Cryohydrocytosis	AD,AR	99.99	301 of 304
*SLC35A1*	CongenitalDisorder Of Glycosylation	AR	100	6 of 6
*SLC35A2*	CongenitalDisorder Of Glycosylation	X,XD,G	99.97	–
*SLC35A3*	Arthrogryposis, Autism Spectrum Disorder-Epilepsy- Arthrogryposis Syndrome	AR	99.94	5 of 5
*SLC35C1*	CongenitalDisorder Of Glycosylation	AR	99.73	8 of 8
*SLC39A8*	CongenitalDisorder Of Glycosylation	AR	99.89	7 of 7
*SLC46A1*	FolateMalabsorption	AR	99.8	21 of 21
*SLC4A10*	Epilepsy, Corneal Dystrophy	–	99.94	4 of 4
*SLC6A1*	Myoclonic- AstasticEpilepsy	AD	100	55 of 55
*SLC6A5*	Hyperekplexia	AD,AR	100	37 of 37
*SLC6A8*	CreatineDeficiency Syndrome	X,XR,G	99.87	–
*SLC6A9*	Glycine Encephalopathy	AR	99.99	5 of 5
*SLC9A6*	Christianson Syndrome	X,XD,G	98.87	–
*SMARCA2*	Nicolaides-Baraitser Syndrome, Intellectual Disability-Sparse Hair-Brachydactyly Syndrome	AD	97.99	80 of 81
*SMC1A*	Cornelia De Lange Syndrome, Semilobar Holoprosencephaly, Wiedemann-Steiner Syndrome	X,XR,XD,G	100	–
*SMC3*	Cornelia De Lange Syndrome	AD	100	30 of 30
*SMS*	Mental Retardation	X,XR,G	84.04	–
*SNAP25*	Myasthenic Syndrome	AD	100	6 of 6
*SNIP1*	Psychomotor Retardation, Craniofacial Dysmorphism	AR	99.68	1 of 1
*SNORD118*	Leukoencephalopathy	AR	–	–
*SNX27*	Epilepsy, Parkinson Disease	–	99.52	1 of 1
*SOX10*	Waardenburg Syndrome, KallmannSyndrome	AD	99.74	139 of 147
*SPATA5*	Epilepsy, Deafness	AR	99.83	30 of 30
*SPR*	Dystonia, Sepiapterin Reductase Deficiency	AD,AR	99.89	27 of 27
*SPRED1*	LegiusSyndrome	AD	100	84 of 84
*SPTAN1*	Epileptic Encephalopathy, West Syndrome	AD	100	52 of 53
*SPTBN4*	Myopathy, Deafness	AR	99.26	10 of 10
*SRGAP2*	Epileptic Encephalopathy, Pilocytic Astrocytoma, West Syndrome, Chromosome 3pter-P25 Deletion Syndrome	–	96.8	1 of 1
*SRPX2*	Rolandic Epilepsy, Speech Dyspraxia , Bilateral Perisylvian Polymicrogyria	AD	100	–
*ST3GAL3*	Epileptic Encephalopathy, Mental Retardation, West Syndrome	AR	100	5 of 5
*ST3GAL5*	EpilepsySyndrome	AR	99.17	6 of 6
*STAG1*	Mental Retardation, Facial Dysmorphism , Gastroesophageal Reflux	AD	99.98	16 of 22
*STARD7*	Epilepsy	AD	98.13	1 of 1
*STIL*	Microcephaly	AR	99.94	18 of 18
*STRADA*	Polyhydramnios, Megalencephaly, Epilepsy	AR	97.95	4 of 6
*STX1B*	GeneralizedEpilepsy, FebrileSeizures	AD	100	24 of 24
*STXBP1*	Epileptic Encephalopathy, 9q33.3q34.11 Microdeletion Syndrome, Rett Syndrome, Dravet Syndrome, West Syndrome	AD	100	209 of 215
*SUMF1*	Multiple Sulfatase Deficiency	AR	100	52 of 52
*SUOX*	Sulfocysteinuria	AR	99.98	28 of 28
*SURF1*	Charcot-Marie- Tooth Disease, Leigh Syndrome, Leukodystrophy	AR,MI	98.59	117 of 124
*SYN1*	Epilepsy, LearningDisabilities	X,XR,XD,G	91.7	–
*SYNGAP1*	Mental Retardation, EpilepticEncephalopathy	AD	99.46	168 of 171
*SYNJ1*	EpilepticEncephalopathy, Parkinson Disease	AR	99.81	30 of 32
*SYP*	Mental Retardation	X,XR,G	99.98	–
*SZT2*	EpilepticEncephalopathy	AR	99.98	39 of 39
*TACO1*	Mitochondrial Complex Iv Deficiency, Leigh Syndrome, Leukodystrophy	AR,MI	100	3 of 3
*TAF1*	Dystonia, Mental Retardation, Parkinsonism	X,XR,G	99.74	–
*TBC1D20*	Warburg Micro Syndrome	AR	99.94	6 of 6
*TBC1D24*	Deafness, Doors Syndrome, Epileptic Encephalopathy, Myoclonic Epilepsy, Dystonia	AD,AR	100	80 of 80
*TBCD*	Encephalopathy, Diffuse Brain Atrophy, Microcephaly	AR	94.89	28 of 28
*TBCE*	Epileptic Encephalopathy, Hypoparathyroidism- Retardation- Dysmorphism Syndrome, Kenny-Caffey Syndrome, Spastic Ataxia, Sanjad- Sakati Syndrome	AR	100	8 of 8
*TBCK*	Hypotonia, Intellectual Disability	AR	99.95	15 of 15
*TBL1XR1*	Mental Retardation, Pierpont Syndrome, PromyelocyticLeukemia	AD	99.78	23 of 23
*TBX1*	Conotruncal Heart Malformations, Digeorge Syndrome , Tetralogy Of Fallot, Velocardiofacial Syndrome, 22q11.2 Deletion Syndrome, 22q11.2 Microduplication Syndrome	AD,AR	88.7	35 of 42
*TCF4*	Corneal Dystrophy, Pitt-Hopkins Syndrome, Sclerosing Cholangitis	AD	98.91	124 of 124
*TDP2*	Spinocerebellar Ataxia	AR	99.93	8 of 8
*TIMM50*	3-Methylglutaconic Aciduria	AR	91	7 of 7
*TMEM67*	Bardet-Biedl Syndrome, Coach Syndrome, Joubert Syndrome, Meckel Syndrome, Nephronophthisis, Rhyns Syndrome	AR	96.93	177 of 179
*TMEM70*	MitochondrialComplex V Deficiency, Encephalo- Cardiomyopathy	AR	100	22 of 24
*TNK2*	Gastric Adenocarcinoma, Epilepsy	–	99.72	6 of 7
*TPK1*	ThiamineMetabolism Dysfunction Syndrome	AR	99.81	15 of 15
*TPP1*	CeroidLipofuscinosis, Spinocerebellar Ataxia	AR	100	147 of 147
*TRAK1*	EpilepticEncephalopathy	AR	99.28	7 of 7
*TRAPPC6B*	Neurodevelopmental Disorder, Microcephaly, Epilepsy, Brain Atrophy	AR	100	4 of 4
*TREX1*	Aicardi-GoutieresSyndrome, Chilblain Lupus, Systemic Lupus Erythematosus, Vasculopathy, Cerebral Leukodystrophy	AD,AR	100	75 of 75
*TRIM8*	EpilepticEncephalopathy	–	99.5	7 of 7
*TRNF*	Mitochondrial Myopathy, Epileptic Encephalopathy, MELAS (Myoclonic Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes), MERRF (Myoclonus Epilepsy Associated With Ragged-Red Fibres)	MI	–	–
*TRNH*	MELAS (Myoclonic Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes), MERRF (Myoclonus Epilepsy Associated With Ragged-Red Fibres)	–	–	–
*TRNI*	MERRF (Myoclonus Epilepsy Associated With Ragged-Red Fibres)	MI	–	–
*TRNK*	MELAS (Myoclonic Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes), MERRF (Myoclonus Epilepsy Associated With Ragged-Red Fibres), Leigh Syndrome, Cardiomyopathy, Deafness	MI	–	–
*TRNL1*	MELAS (Myoclonic Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes), MERRF (Myoclonus Epilepsy Associated With Ragged-Red Fibres), Kearns- Sayre Syndrome, Deafness, Leigh Syndrome, Ophthalmoplegia	MI	–	–
*TRNP*	MERRF (Myoclonus Epilepsy Associated With Ragged-Red Fibres)	MI	–	–
*TRNQ*	MELAS (Myoclonic Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes), MERRF (Myoclonus Epilepsy Associated With Ragged- Red Fibres)	MI	–	–
*TRNS1*	Mitochondrial Complex Iv Deficiency, MELAS (Myoclonic Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes), MERRF (Myoclonus Epilepsy Associated With Ragged-Red Fibres), Ophthalmoplegia, Palmoplantar Keratoderma- Deafness Syndrome	AR,MI	–	–
*TRNS2*	MELAS (Myoclonic Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes), MERRF (Myoclonus Epilepsy Associated With Ragged-Red Fibres), Usher Syndrome	MI	–	–
*TSC1*	Dysplasia Of Taylor, Lymphangioleiomyomatosis, Tuberous Sclerosis	AD	99.86	390 of 406
*TSC2*	Dysplasia Of Taylor, Lymphangioleiomyomatosis, Tuberous Sclerosis	AD	100	1157 of 1159
*TSEN2*	Pontocerebellar Hypoplasia	AR	95.47	4 of 5
*TSEN34*	Pontocerebellar Hypoplasia	AR	100	1 of 1
*TSEN54*	Encephalopathy, Olivopontocerebellar Hypoplasia	AR	96.94	20 of 22
*TTC19*	Mitochondrial ComplexIii Deficiency	AR	95.3	10 of 12
*TUBA1A*	Lissencephaly	AD	100	95 of 95
*TUBA8*	Polymicrogyria With Optic Nerve Hypoplasia	AR	80.97	5 of 5
*TUBB2A*	Cortical Dysplasia	AD	81.71	5 of 7
*TUBB2B*	Cortical Dysplasia, Dysequilibrium Syndrome, Polymicrogyria	AD	84.28	29 of 38
*TUBB4A*	Dystonia, Leukodystrophy	AD	89.81	44 of 44
*TWNK*	Spinocerebellar Ataxia, Perrault Syndrome , Ophthalmoplegia, Dysarthria	AD,AR	–	–
*UBA5*	Epileptic Encephalopathy, Spinocerebellar Ataxia	AR	99.98	19 of 19
*UBE2A*	Mental Retardation	X,XR,G	99.99	–
*UBE3A*	Angelman Syndrome, 15q11q13 Microduplication Syndrome	AD	99.98	208 of 211
*UNC80*	Hypotonia, SpeechImpairment	AR	99.95	39 of 39
*VAMP2*	Neurodevelopmental Disorder, Hypotonia, Hyperkinetic Movements	AD	99.62	5 of 5
*VARS1*	Neurodevelopmental Disorder, Microcephaly, Cortical Atrophy	AR	97.86	19 of 20
*VPS13A*	Choreoacanthocytosis	AR	99.37	120 of 122
*VPS13B*	Cohen Syndrome	AR	99.98	182 of 190
*WARS2*	Neurodevelopmental Disorder, Lactic Acidosis, Oxidative Phosphorylation Defect	AR	99.95	14 of 15
*WASF1*	Neurodevelopmental Disorder, Seizures	AD	97.03	3 of 3
*WDR26*	Skraban-Deardorff Syndrome, Intellectual Disability, Seizures, Facial Dysmorphism	AD	99.31	22 of 22
*WDR45*	Neurodegeneration, Brain Iron Accumulation, West Syndrome	X,XD,G	100	–
*WWOX*	Epileptic Encephalopathy, Esophageal Cancer, Spinocerebellar Ataxia, Gonadal Dysgenesis, Squamous Cell Carcinoma Of The Esophagus	AR	99.94	44 of 44
*YEATS2*	MyoclonicEpilepsy	AD	99.98	1 of 1
*YWHAG*	Epileptic Encephalopathy	AD	99.94	5 of 5
*ZDHHC9*	Mental Retardation	X,G	100	–
*ZEB2*	Mowat-Wilson Syndrome	AD	98.95	253 of 254
*ZFYVE26*	SpasticParaplegia	AR	99.95	48 of 48
*ZIC2*	Holoprosencephaly	AD	84.47	86 of 112

* 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

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