UKGTN Testing Criteria

Transcription

1 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.

2 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 AMISH INFANTILE EPILEPSY SYNDROME ANGELMAN SYNDROME; AS BRUGADA SYNDROME 5; BRGDA CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT; DFNB DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL; FDAB DRAVET SYNDROME DYSTONIA 9; DYT ENCEPHALOPATHY, NEONATAL SEVERE EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; ECA EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EIG EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12; EIG EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EIG EPILEPSY, NOCTURNAL FRONTAL LOBE, 1; ENFL EPILEPSY, NOCTURNAL FRONTAL LOBE, 3; ENFL EPILEPSY, NOCTURNAL FRONTAL LOBE, 4; ENFL EPILEPSY, PROGRESSIVE MYOCLONIC 1B; EPM1B EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM EPILEPSY, PYRIDOXINE-DEPENDENT; EPD EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; EIEE EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10; EIEE EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12; EIEE EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3; EIEE EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5; EIEE EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7; EIEE EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8; EIEE EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE EPISODIC ATAXIA, TYPE 1; EA

3 EPISODIC ATAXIA, TYPE 2; EA EPISODIC ATAXIA, TYPE 5; EA ERYTHERMALGIA, PRIMARY FG SYNDROME 2; FGS FOCAL CORTICAL DYSPLASIA OF TAYLOR; FCDT FRONTOMETAPHYSEAL DYSPLASIA; FMD GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA; GEPD GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1; GEFSP GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3; GEFSP GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS GLYCINE ENCEPHALOPATHY; GCE HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS HYPEREKPLEXIA 2; HKPX HYPEREKPLEXIA 3; HKPX HYPEREKPLEXIA, HEREDITARY 1; HKPX HYPERKALEMIC PERIODIC PARALYSIS; HYPP HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2; HOKPP INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED LISSENCEPHALY, X-LINKED, 1; LISX LISSENCEPHALY, X-LINKED, 2; LISX LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL LYMPHANGIOLEIOMYOMATOSIS; LAM LYMPHEDEMA, HEREDITARY, IC MELNICK-NEEDLES SYNDROME; MNS MENKES DISEASE MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX- RELATED; MRXARX MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE);

4 MTDPS4B MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS MOLYBDENUM COFACTOR DEFICIENCY MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE MYOCLONIC EPILEPSY OF LAFORA MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG MYOCLONIC EPILEPSY, FAMILIAL INFANTILE; FIME MYOTONIA, POTASSIUM-AGGRAVATED NEUROBLASTOMA, SUSCEPTIBILITY TO OTOPALATODIGITAL SYNDROME, TYPE I; OPD OTOPALATODIGITAL SYNDROME, TYPE II; OPD PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1; PEOA PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3; PEOA PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE; PEOB RETT SYNDROME, CONGENITAL VARIANT RETT SYNDROME; RTT SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1; SSQTL SPINOCEREBELLAR ATAXIA 6; SCA SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY; SCAN SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK SULFOCYSTEINURIA TERMINAL OSSEOUS DYSPLASIA; TOD TUBEROUS SCLEROSIS 1; TSC TUBEROUS SCLEROSIS 2; TSC WAARDENBURG SYNDROME, TYPE 2E; WS2E WAARDENBURG SYNDROME, TYPE 4C; WS4C

5 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 ALDH7A Aminomethyltransferase AMT ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) ARFGEF Cdc42 guanine nucleotide exchange factor (GEF) 9 ARHGEF Aristaless related homeobox ARX Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit CACNA1A Calcium channel, voltage-dependent, beta 4 subunit CACNB Cyclin-dependent kinase-like 5 CDKL Cholinergic receptor, nicotinic, alpha 2 (neuronal) CHRNA Cholinergic receptor, nicotinic, alpha 4 (neuronal) CHRNA Cholinergic receptor, nicotinic, beta 2 (neuronal) CHRNB Cystatin B (stefin B) CSTB Doublecortin DCX Epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) EPM2A Filamin A, alpha FLNA Forkhead box G1 FOXG Gamma-aminobutyric acid (GABA) A receptor, delta GABRD Gamma-aminobutyric acid (GABA) A receptor, gamma 2 GABRG Glycine cleavage system protein H (aminomethyl carrier) GCSH Glycine receptor, alpha 1 GLRA Glycine receptor, beta GLRB Potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) KCNA Potassium inwardly-rectifying channel, subfamily J, member 10 KCNJ Potassium large conductance calcium-activated channel, subfamily M, alpha member 1 KCNMA Potassium voltage-gated channel, KQT-like subfamily, member 2 KCNQ Potassium voltage-gated channel, KQT-like subfamily, member 3 KCNQ Potassium channel tetramerisation domain containing 7 KCTD Leucine-rich, glioma inactivated 1 LGI Methyl CpG binding protein 2 (Rett syndrome) MECP Molybdenum cofactor synthesis 1 MOCS Molybdenum cofactor synthesis 2 MOCS NHL repeat containing 1 NHLRC Protocadherin 19 PCDH Phospholipase C, beta 1 (phosphoinositide-specific) PLCB

6 Polynucleotide kinase 3'-phosphatase PNKP Polymerase (DNA directed), gamma POLG Prickle homolog 1 (Drosophila) PRICKLE Peripherin PRPH Sodium channel, voltage-gated, type I, alpha subunit SCN1A Sodium channel, voltage-gated, type I, beta subunit SCN1B Sodium channel, voltage-gated, type II, alpha subunit SCN2A SODIUM CHANNEL, VOLTAGE-GATED, TYPE III, ALPHA SUBUNIT; SCN3A Sodium channel, voltage-gated, type IV, alpha subunit SCN4A Sodium channel, voltage-gated, type IX, alpha subunit SCN9A Solute carrier family 2 (facilitated glucose transporter), member 1 SLC2A Solute carrier family 6 (neurotransmitter transporter, glycine), member 5 SLC6A Solute carrier family 25 (mitochondrial carrier: glutamate), member 22 SLC25A Spectrin, alpha, non-erythrocytic 1 SPTAN ST3 beta-galactoside alpha-2,3-sialyltransferase 5 ST3GAL Syntaxin binding protein 1 STXBP Sulfite oxidase SUOX TBC1 domain family, member 24 TBC1D Tuberous sclerosis 1 TSC Tuberous sclerosis 2 TSC