Test name: Epilepsy 53 Gene Panel UKGTN Testing Criteria Approved name and symbol of disorder/condition(s): Epilepsy Panel Test See Appendix 1 Approved name and symbol of gene(s): See Appendix 2 OMIM number(s): See Appendix 1 OMIM number(s): See Appendix 2 Patient name: Patient postcode: Date of birth: NHS number: Name of referrer: Title/Position: Lab ID: Referrals will only be accepted from one of the following: Referrer Consultant Paediatric Neurologist Consultant Adult Neurologist Consultant Clinical Geneticist Tick if this refers to you. Minimum criteria required for testing to be appropriate as stated in the Gene Dossier: Criteria Epilepsy with clinical suspicion of genetic cause including features such as early onset, family history, dysmorphic features and brain malformations Tick if this patient meets criteria Additional Information: For panel tests: At risk family members where familial mutation is known do not require a full panel test but should be offered analysis of the known mutation If the sample does not fulfil the clinical criteria or you are not one of the specified types of referrer and you still feel that testing should be performed please contact the laboratory to discuss testing of the sample.
Appendix 1 - Conditions included in panel test Epilepsy 53 Gene Panel OMIM standard name of condition and symbol OMIM number AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN 218000 AMISH INFANTILE EPILEPSY SYNDROME 609056 ANGELMAN SYNDROME; AS 105830 BRUGADA SYNDROME 5; BRGDA5 612838 CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1 314400 CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY 604168 CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA 300004 CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED 304100 DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; DFNB4 600791 DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL; FDAB 606835 DRAVET SYNDROME 607208 DYSTONIA 9; DYT9 601042 ENCEPHALOPATHY, NEONATAL SEVERE 300673 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; ECA2 607681 EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 600512 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EIG10 613060 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12; EIG12 614847 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EIG9 607682 EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL1 600513 EPILEPSY, NOCTURNAL FRONTAL LOBE, 3; ENFL3 605375 EPILEPSY, NOCTURNAL FRONTAL LOBE, 4; ENFL4 610353 EPILEPSY, PROGRESSIVE MYOCLONIC 1B; EPM1B 612437 EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3 611726 EPILEPSY, PYRIDOXINE-DEPENDENT; EPD 266100 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; EIEE1 308350 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10; EIEE10 613402 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11 613721 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12; EIEE12 613722 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2 300672 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3; EIEE3 609304 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4 612164 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5; EIEE5 613477 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7; EIEE7 613720 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8; EIEE8 300607 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9 300088 EPISODIC ATAXIA, TYPE 1; EA1 160120
EPISODIC ATAXIA, TYPE 2; EA2 108500 EPISODIC ATAXIA, TYPE 5; EA5 613855 ERYTHERMALGIA, PRIMARY 133020 FG SYNDROME 2; FGS2 300321 FOCAL CORTICAL DYSPLASIA OF TAYLOR; FCDT 607341 FRONTOMETAPHYSEAL DYSPLASIA; FMD 305620 GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA; GEPD 609446 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1; GEFSP1 604233 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP2 604403 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3; GEFSP3 611277 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7 613863 GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1 606777 GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2 612126 GLYCINE ENCEPHALOPATHY; GCE 605899 HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE 608097 HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT 300537 HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT 300049 HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS 176670 HYPEREKPLEXIA 2; HKPX2 614619 HYPEREKPLEXIA 3; HKPX3 614618 HYPEREKPLEXIA, HEREDITARY 1; HKPX1 149400 HYPERKALEMIC PERIODIC PARALYSIS; HYPP 170500 HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2; HOKPP2 613345 INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE 243000 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA 256800 INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED 300048 LISSENCEPHALY, X-LINKED, 1; LISX1 300067 LISSENCEPHALY, X-LINKED, 2; LISX2 300215 LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL 300260 LYMPHANGIOLEIOMYOMATOSIS; LAM 606690 LYMPHEDEMA, HEREDITARY, IC 613480 MELNICK-NEEDLES SYNDROME; MNS 309350 MENKES DISEASE 309400 MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13 300055 MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX- RELATED; MRXARX 300419 MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1 141500 MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3 609634 MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A 203700 MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); 613662
MTDPS4B MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS7 271245 MOLYBDENUM COFACTOR DEFICIENCY 252150 MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE 614198 MYOCLONIC EPILEPSY OF LAFORA 254780 MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG 254800 MYOCLONIC EPILEPSY, FAMILIAL INFANTILE; FIME 605021 MYOTONIA, POTASSIUM-AGGRAVATED 608390 NEUROBLASTOMA, SUSCEPTIBILITY TO 256700 OTOPALATODIGITAL SYNDROME, TYPE I; OPD1 311300 OTOPALATODIGITAL SYNDROME, TYPE II; OPD2 304120 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1; PEOA1 157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3; PEOA3 609286 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE; PEOB 258450 RETT SYNDROME, CONGENITAL VARIANT 613454 RETT SYNDROME; RTT 312750 SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3 607745 SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1 121200 SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2 121201 SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES 612780 SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO 607459 SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1; SSQTL1 613508 SPINOCEREBELLAR ATAXIA 6; SCA6 183086 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY; SCAN1 607250 SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE 184095 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK 184252 SULFOCYSTEINURIA 272300 TERMINAL OSSEOUS DYSPLASIA; TOD 300244 TUBEROUS SCLEROSIS 1; TSC1 191100 TUBEROUS SCLEROSIS 2; TSC2 613254 WAARDENBURG SYNDROME, TYPE 2E; WS2E 611584 WAARDENBURG SYNDROME, TYPE 4C; WS4C 613266
Appendix 2 - Genes included in panel test Epilepsy 53 Gene Panel HGNC OMIM HGNC standard name and symbol of the gene number number Aldehyde dehydrogenase 7 family, member A1 ALDH7A1 877 107323 Aminomethyltransferase AMT 473 238310 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) ARFGEF2 15853 605371 Cdc42 guanine nucleotide exchange factor (GEF) 9 ARHGEF9 14561 300429 Aristaless related homeobox ARX 18060 300382 Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit CACNA1A 1388 601011 Calcium channel, voltage-dependent, beta 4 subunit CACNB4 1404 601949 Cyclin-dependent kinase-like 5 CDKL5 11411 300203 Cholinergic receptor, nicotinic, alpha 2 (neuronal) CHRNA2 1956 118502 Cholinergic receptor, nicotinic, alpha 4 (neuronal) CHRNA4 1958 118504 Cholinergic receptor, nicotinic, beta 2 (neuronal) CHRNB2 1962 118507 Cystatin B (stefin B) CSTB 2482 601145 Doublecortin DCX 2714 300121 Epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) EPM2A 3413 607566 Filamin A, alpha FLNA 3754 300017 Forkhead box G1 FOXG1 3811 164874 Gamma-aminobutyric acid (GABA) A receptor, delta GABRD 4084 137163 Gamma-aminobutyric acid (GABA) A receptor, gamma 2 GABRG2 4087 137164 Glycine cleavage system protein H (aminomethyl carrier) GCSH 4208 238330 Glycine receptor, alpha 1 GLRA1 4326 138491 Glycine receptor, beta GLRB 4329 138492 Potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) KCNA1 6218 176260 Potassium inwardly-rectifying channel, subfamily J, member 10 KCNJ10 6256 602208 Potassium large conductance calcium-activated channel, subfamily M, alpha member 1 KCNMA1 6284 600150 Potassium voltage-gated channel, KQT-like subfamily, member 2 KCNQ2 6296 602235 Potassium voltage-gated channel, KQT-like subfamily, member 3 KCNQ3 6297 602232 Potassium channel tetramerisation domain containing 7 KCTD7 21957 611725 Leucine-rich, glioma inactivated 1 LGI1 6572 604619 Methyl CpG binding protein 2 (Rett syndrome) MECP2 6990 300005 Molybdenum cofactor synthesis 1 MOCS1 7190 603707 Molybdenum cofactor synthesis 2 MOCS2 7193 603708 NHL repeat containing 1 NHLRC1 21576 608072 Protocadherin 19 PCDH19 14270 300460 Phospholipase C, beta 1 (phosphoinositide-specific) PLCB1 15917 607120
Polynucleotide kinase 3'-phosphatase PNKP 9154 605610 Polymerase (DNA directed), gamma POLG 9179 174763 Prickle homolog 1 (Drosophila) PRICKLE1 17019 608500 Peripherin PRPH 9461 170710 Sodium channel, voltage-gated, type I, alpha subunit SCN1A 10585 182389 Sodium channel, voltage-gated, type I, beta subunit SCN1B 10586 600235 Sodium channel, voltage-gated, type II, alpha subunit SCN2A 10588 182390 SODIUM CHANNEL, VOLTAGE-GATED, TYPE III, ALPHA SUBUNIT; SCN3A 10590 182391 Sodium channel, voltage-gated, type IV, alpha subunit SCN4A 10591 603967 Sodium channel, voltage-gated, type IX, alpha subunit SCN9A 10597 603415 Solute carrier family 2 (facilitated glucose transporter), member 1 SLC2A1 11005 138140 Solute carrier family 6 (neurotransmitter transporter, glycine), member 5 SLC6A5 11051 604159 Solute carrier family 25 (mitochondrial carrier: glutamate), member 22 SLC25A22 19954 609302 Spectrin, alpha, non-erythrocytic 1 SPTAN1 11273 182810 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 ST3GAL5 10872 604402 Syntaxin binding protein 1 STXBP1 11444 602926 Sulfite oxidase SUOX 11460 606887 TBC1 domain family, member 24 TBC1D24 29203 613577 Tuberous sclerosis 1 TSC1 12362 605284 Tuberous sclerosis 2 TSC2 12363 191092