Epilepsy Plus (Version 0.16)

This Panel is marked as Retired

Description

Epilepsy Plus eligibility statement:

Epilepsy plus other features inclusion criteria (41928)
Established diagnosis of epilepsy, confirmed by a neurologist

AND with at least one additional phenotype from: intellectual disability, autism spectrum disorder, structural abnormality (e.g. dysmorphism, cerebral or somatic malformation), unexplained cognitive/memory decline

OR
Consanguineous parents

Epilepsy plus other features exclusion criteria (41928)
Case falls into one of the other GeL epilepsy disease categories
Focal, unilateral cerebral malformations

Prior genetic testing guidance (41928)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Epilepsy plus other features prior genetic testing genes (41928)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
As dictated by local practice and clinical phenotype including consideration of SCN1A

Closing statement (41928)
These requirements will be kept under continual review during the main programme and may be subject to change.

Panel Activity

4 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Cristina Dias (The Francis Crick Institute)

Group: NHS Genomic Medicine Centre
Workplace: Other
Alice Gardham (Genomics England)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other

142 Entities

7 reviewed, 68 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 142 Entitiess
Green Green List (high evidence)	ADSL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green UKGTN Phenotypes Adenylosuccinase deficiency Tags
Green Green List (high evidence)	ALG13	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green UKGTN Phenotypes Congenital disorder of glycosylation, type Is Infantile spasms and LGS Tags
Green Green List (high evidence)	ARHGEF9	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Tags
Green Green List (high evidence)	ARX	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Tags
Green Green List (high evidence)	ATP1A3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green UKGTN Phenotypes Alternating hemiplegia of childhood 2 Catastrophic epilepsy, unusual apnea spells, and postnatal microcephaly Dystonia-12 CAPOS Syndrome (recurrent mutation) Tags
Green Green List (high evidence)	ATRX	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Expert Review Green UKGTN Phenotypes Alpha-thalassemia/mental retardation syndrome Mental retardation-hypotonic facies syndrome, X-linked Tags
Green Green List (high evidence)	CDKL5	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Angelman syndrome-like Epileptic encephalopathy, early infantile, 2 Tags
Green Green List (high evidence)	CHD2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	CHRNA4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Literature UKGTN Phenotypes Epilepsy, nocturnal frontal lobe, 1 600513 Tags
Green Green List (high evidence)	CNTNAP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cortical Dysplasia-Focal Epilepsy Syndrome Cortical dysplasia-focal epilepsy syndrome Pitt-Hopkins like syndrome 1 Tags
Green Green List (high evidence)	DEPDC5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Epilepsy, familial focal, with variable foci 604364 Epilepsy, familial focal, with variable foci Tags
Green Green List (high evidence)	DNM1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Tags
Green Green List (high evidence)	DOCK7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 EIEE23 Tags
Green Green List (high evidence)	DYRK1A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 Tags
Green Green List (high evidence)	EHMT1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Phenotypes Kleefstra syndrome Tags
Green Green List (high evidence)	FOXG1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green UKGTN Phenotypes Rett syndrome, congenital variant Tags
Green Green List (high evidence)	GABRA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert list Expert Review Green Phenotypes 611136 Epileptic encephalopathy, early infantile, 19 EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	GABRB3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Epilepsy, childhood absence, susceptibility to, 5 EPILEPTIC ENCEPHALOPATHIES {Epilepsy,juvenilemyoclonic,susceptibilityto,8},607628{Epilepsy,juvenileabsence,susceptibilityto,2},607628{Epilepsy,idiopathicgeneralized,susceptibilityto,11},607628 Tags
Green Green List (high evidence)	GABRG2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Epilepsy,generalized,withfebrileseizuresplus,type3 Febrile seizures, familial, 8 611277 Generalized Epilepsy with Febrile Seizures Plus Epilepsy, generalized, with febrile seizures plus, type 3 Tags
Green Green List (high evidence)	GNAO1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes EPILEPTIC ENCEPHALOPATHY Epileptic encephalopathy, early infantile, 17 Tags
Green Green List (high evidence)	GRIN1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant NDHMSD Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive NDHMSR Mental retardation, autosomal dominant 8 early onset epileptic encephalopathies involuntary movements severe developmental delay intellectual disability EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	GRIN2A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green UKGTN Phenotypes Epilepsy, focal, with speech disorder and with or without mental retardation EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS LANDAU-KLEFFNER SYNDROME Tags
Green Green List (high evidence)	GRIN2B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green UKGTN Phenotypes Mental retardation, autosomal dominant 6 Epileptic encephalopathy, early infantile, 27 EPILEPTIC ENCEPHALOPATHY AUTISM Tags
Green Green List (high evidence)	HCN1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 24 Tags
Green Green List (high evidence)	IQSEC2	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Expert Review Green Phenotypes Mental retardation, X-linked 1 Tags
Green Green List (high evidence)	KCNA2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 32 EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	KCNB1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 26 Tags
Green Green List (high evidence)	KCNJ10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Phenotypes SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE (SESAME) SESAME syndrome Tags
Green Green List (high evidence)	KCNQ2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes BENIGN NEONATAL EPILEPSY TYPE 1 (EBN1) EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 (EIEE7) Epileptic encephalopathy, early infantile, 7 Myokymia Seizures, benign neonatal, 1 Tags
Green Green List (high evidence)	KCNQ3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Benign Familial Neonatal Seizures Seizures, benign neonatal, type 2 Tags
Green Green List (high evidence)	KCNT1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes 615005 Epileptic encephalopathy, early infantile, 14 Epilepsy, nocturnal frontal lobe, 5 MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY Tags
Green Green List (high evidence)	KIF1BP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Goldberg-Shprintzen megacolon syndrome Tags new-gene-name
Green Green List (high evidence)	MAPK10	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Epileptic Encephalopathy EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE Tags
Green Green List (high evidence)	MBD5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Phenotypes Mental retardation, autosomal dominant 1 Tags
Green Green List (high evidence)	MECP2	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Encephalopathy, neonatal severe Angelman syndrome Mental retardation, X-linked syndromic, Lubs type Mental retardation, X-linked, syndromic 13 Rett syndrome Tags
Green Green List (high evidence)	MEF2C	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green UKGTN Phenotypes Mental retardation, autosomal dominant 20 MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Tags
Green Green List (high evidence)	NEXMIF	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Phenotypes Mental retardation, X-linked 98 Tags
Green Green List (high evidence)	PCDH19	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes 300088 Epileptic encephalopathy, early infantile, 9 Tags x-linked-over-dominance
Green Green List (high evidence)	PIGA	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2 Tags
Green Green List (high evidence)	PLCB1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Early Infantile Epileptic Encephalopathy, Autosomal Recessive Epileptic encephalopathy, early infantile, 12 Tags
Green Green List (high evidence)	PNKP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Early infantile epileptic encephalopathy type 10 Ataxia-oculomotor apraxia 4 Microcephaly, seizures, and developmental delay Tags
Green Green List (high evidence)	POLG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green UKGTN Phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type) Mitochondrial DNA depletion syndrome 4B (MNGIE type) Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Tags
Green Green List (high evidence)	PRRT2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Convulsions, familial infantile, with paroxysmal choreoathetosis Episodic kinesigenic dyskinesia 1 Seizures, benign familial infantile, 2 BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME Tags
Green Green List (high evidence)	PURA	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Mental retardation, autosomal dominant 31 INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	QARS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Tags new-gene-name
Green Green List (high evidence)	SCN1A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement exclusion criteria Eligibility statement prior genetic testing Expert Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Epilepsy, generalized, with febrile seizures plus, type 2 Febrile seizures, familial, 3A 604403 Generalized Epilepsy With Febrile Seizures Plus, Type 2 GEFSP2 607208 Dravet syndrome Tags
Green Green List (high evidence)	SCN1B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Generalized Epilepsy with Febrile Seizures Plus Epilepsy, generalized, with febrile seizures plus, type 1 Epilepsy, generalized, with febrile seizures plus, type 1 604233 Tags
Green Green List (high evidence)	SCN2A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Benign Familial Neonatal Infantile Seizures Early Infantile Epileptic Encephalopathy, Autosomal Dominant Seizures, benign familial infantile, 3 Epileptic encephalopathy, early infantile, 11 BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES Tags
Green Green List (high evidence)	SCN8A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cognitive impairment with or without cerebellar ataxia Intellectual disability Epileptic encephalopathy, early infantile, 13 Tags
Green Green List (high evidence)	SETD5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Mental retardation, autosomal dominant 23 Tags
Green Green List (high evidence)	SIK1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes NEONATAL EPILEPSY SPECTRUM Epileptic encephalopathy, early infantile, 30 Tags
Green Green List (high evidence)	SLC12A5	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes epilepsy of infancy with migrating focal seizures (EIMFS) Tags
Green Green List (high evidence)	SLC13A5	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 25 Tags
Green Green List (high evidence)	SLC16A2	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN Phenotypes Allan-Herndon-Dudley syndrome Tags
Green Green List (high evidence)	SLC25A22	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Epileptic encephalopathy, early infantile, 3 Tags
Green Green List (high evidence)	SLC2A1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes {Epilepsy,idiopathicgeneralized,suscpetibilityto,12} 614847 606777 612126 Dystonia 9 Tags
Green Green List (high evidence)	SLC6A1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Tags
Green Green List (high evidence)	SLC9A6	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN Phenotypes Mental retardation, X-linked syndromic, Christianson type Tags
Green Green List (high evidence)	SPTAN1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Epileptic encephalopathy, early infantile, 5 Tags
Green Green List (high evidence)	STX1B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Tags
Green Green List (high evidence)	STXBP1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Epileptic encephalopathy, early infantile, 4 Tags
Green Green List (high evidence)	SYNGAP1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green UKGTN Phenotypes Mental retardation, autosomal dominant 5 Tags
Green Green List (high evidence)	TCF4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green UKGTN Phenotypes Pitt-Hopkins syndrome Tags
Green Green List (high evidence)	UBE2A	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN Phenotypes Mental retardation, X-linked syndromic, Nascimento-type Tags
Green Green List (high evidence)	UBE3A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Expert Review Green UKGTN Phenotypes Angelman syndrome Tags
Green Green List (high evidence)	WDR45	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Expert Review Green Tags
Green Green List (high evidence)	WWOX	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Tags
Green Green List (high evidence)	ZEB2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Phenotypes Mowat-Wilson syndrome Tags
Red Red List (low evidence)	ABAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes GABA-transaminase deficiency Tags
Red Red List (low evidence)	ADGRV1	0 reviews	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Febrile seizures, familial, 4, 604352Usher syndrome, type 2C, 605472Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 Tags
Red Red List (low evidence)	ALDH7A1	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	ATP1A2	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	BTD	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	CACNA1A	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	CACNA1H	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	CACNB4	0 reviews	Not set	Sources Expert Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682{Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682Episodic ataxia, type 5, 613855 Tags
Red Red List (low evidence)	CASK	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	CASR	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899Hypercalciuric hypercalcemia{Calcium, serum level of} Tags
Red Red List (low evidence)	CBL	0 reviews	Not set	Sources Expert Review Expert Review Red Tags
Red Red List (low evidence)	CHRNA2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Red Literature Phenotypes 610353 Epilepsy, nocturnal frontal lobe, type 4 Tags
Red Red List (low evidence)	CHRNB2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Red Literature UKGTN Phenotypes Epilepsy, nocturnal frontal lobe, 3 605375 Tags
Red Red List (low evidence)	CLN3	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	CLN5	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	CLN6	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	CLN8	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	CNTN2	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Epilepsy, familial adult myoclonic, 5 Tags
Red Red List (low evidence)	COL4A1	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	COL4A2	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	CPA6	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Familial Temporal Lobe Epilepsy Febrile seizures, familial, 11 Epilepsy, familial temporal lobe, 5 Tags
Red Red List (low evidence)	CRH	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	CSNK1G1	0 reviews	Not set	Sources Expert Review Expert Review Red Tags
Red Red List (low evidence)	CSTB	1 review	Not set	Sources Expert Expert Review Red Tags nucleotide-repeat-expansion
Red Red List (low evidence)	CTSD	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	EEF1A2	0 reviews	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Tags
Red Red List (low evidence)	EFHC1	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	EPM2A	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	FTL	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Epilepsy, familial temporal lobe, 2 (2) Tags
Red Red List (low evidence)	GABBR2	0 reviews	Not set	Sources Expert Review Expert Review Red Tags
Red Red List (low evidence)	GABRD	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	GAMT	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	GATAD2B	0 reviews	Not set	Sources Expert Review Expert Review Red Tags
Red Red List (low evidence)	GATM	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	GLRA1	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	GLRB	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	GOSR2	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	GPHN	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	HLCS	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	HNRNPU	0 reviews	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Epileptic encephalopathy (Mefford (2011) Ann Neurol 70, 974) Tags
Red Red List (low evidence)	KCNA1	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	KCNC1	0 reviews	Not set	Sources Expert Review Expert Review Red Tags
Red Red List (low evidence)	KCNMA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Generalized Epilepsy and Paroxysmal Dyskinesia Tags
Red Red List (low evidence)	KCTD7	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	LGI1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Epilepsy, familial temporal lobe, 1 Tags
Red Red List (low evidence)	MAGI2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red UKGTN Phenotypes Infantile Spasms Tags
Red Red List (low evidence)	MFSD8	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	MOCS1	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	MOCS2	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	MT-TL1	0 reviews	MITOCHONDRIAL	Sources Expert Review Red UKGTN Tags
Red Red List (low evidence)	NECAP1	0 reviews	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Epileptic encephalopathy, early infantile,21 Tags
Red Red List (low evidence)	NEDD4L	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes pilepsy,photosensitivegeneralized(Dibbens(2007)GenesBrainBehav6,750) Tags
Red Red List (low evidence)	NHLRC1	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	NRXN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Red UKGTN Tags
Red Red List (low evidence)	PCDH12	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes intellectual disability microcephaly epilepsy perithalamic hyperechogenicity periventricular hyperechogenicity midbrain abnormalities hypothalamic abnormalities Tags founder-effect
Red Red List (low evidence)	PIGQ	0 reviews	Not set	Sources Expert Review Expert Review Red Tags
Red Red List (low evidence)	PNPO	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	PPT1	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	PRICKLE1	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	PRICKLE2	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	RYR3	0 reviews	Not set	Sources Expert Review Expert Review Red Tags
Red Red List (low evidence)	SCARB2	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	SCN2B	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	SCN9A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Familial Febrile Seizures Epilepsy, generalized, with febrile seizures plus, type 7 Febrile seizures, familial, 3B Familial Febrile Seizures Generalized Epilepsy with Febrile Seizures Plus Tags
Red Red List (low evidence)	SLC6A5	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	SLC6A8	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	SMS	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	SRPX2	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	ST3GAL3	0 reviews	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Epileptic encephalopathy, early infantile, 15 Tags
Red Red List (low evidence)	SZT2	0 reviews	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Epileptic encephalopathy, early infantile, 18 Tags
Red Red List (low evidence)	TBC1D24	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Familial Infantile Myoclonic Epilepsy Tags
Red Red List (low evidence)	TBL1XR1	0 reviews	Not set	Sources Expert Review Expert Review Red Tags
Red Red List (low evidence)	TPP1	0 reviews	Not set	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	TSC1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Phenotypes Focal Cortical Dysplasia of Taylor Tags

Epilepsy Plus (Version 0.16)

4 reviewers

142 Entities

7 reviewed, 68 green

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