Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ADCY5 gene ADCY5 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial dyskinesia 606703;Dyskinesia, familial, with facial myokymia, 606703 11310626;24700542 False 3 67;33;0 4.3 True ENSG00000173175 ENSG00000173175 HGNC:236 ATAD1 gene ATAD1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 4, 618011 False 3 25;75;0 4.3 False ENSG00000138138 ENSG00000138138 HGNC:25903 ATP1A2 gene ATP1A2 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Migraine, familial hemiplegic, 2, 602481;Migraine, familial basilar, 602481;alternating hemiplegia of childhood 104290 12539047;12953268;18056581 False 3 67;33;0 4.3 True ENSG00000018625 ENSG00000018625 HGNC:800 ATP1A3 gene ATP1A3 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia-12, 128235;Alternating hemiplegia of childhood 2, 614820;CAPOS syndrome, 601338 22842232;22850527 False 3 67;33;0 4.3 True ENSG00000105409 ENSG00000105409 HGNC:801 CACNA1A gene CACNA1A Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia, type 2, OMIM:108500;Migraine, familial hemiplegic, 1, OMIM:141500;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500 17575281;21734179 False 3 67;33;0 4.3 True ENSG00000141837 ENSG00000141837 HGNC:1388 DNMT1 gene DNMT1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121;Neuropathy, hereditary sensory, type IE, 614116;CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT;ADCADN 23904686;22328086;24709307;31984424 False 3 67;33;0 4.3 True ENSG00000130816 ENSG00000130816 HGNC:2976 GLRA1 gene GLRA1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 1, 149400 20301437 False 3 60;40;0 4.3 False ENSG00000145888 ENSG00000145888 HGNC:4326 GLRB gene GLRB Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 2 OMIM:614619;hyperekplexia 2 MONDO:0013828 23238346;11929858;21391991;33323420 False 3 60;40;0 4.3 False ENSG00000109738 ENSG00000109738 HGNC:4329 KCNA1 gene KCNA1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic Ataxia;EPISODIC ATAXIA, TYPE 1;Episodic ataxia/myokymia syndrome, 160120;EA1;Myokymia;myokymia with periodic ataxia;Episodic Ataxia, Type 1 17575281 False 3 67;33;0 4.3 True ENSG00000111262 ENSG00000111262 HGNC:6218 KCNMA1 gene KCNMA1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446;Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276 15937479;26195193;29545233;27567911 False 3 80;20;0 4.3 True ENSG00000156113 ENSG00000156113 HGNC:6284 KCNQ2 gene KCNQ2 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myokymia, 121200;Seizures, benign neonatal, 1, 121200;Epileptic encephalopathy, early infantile, 7, 613720 False 3 60;40;0 4.3 False ENSG00000075043 ENSG00000075043 HGNC:6296 PDE10A gene PDE10A Expert Review Green;London North GLH;NHS GMS Paroxysmal central nervous system disorders Neurology BIALLELIC, autosomal or pseudoautosomal Dyskinesia, limb and orofacial, infantile-onset, 616921;Infantile-onset limb and orofacial dyskinesia False 3 75;25;0 4.3 True ENSG00000112541 ENSG00000112541 HGNC:8772 PNKD gene PNKD Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Paroxysmal nonkinesigenic dyskinesia 1, 118800 15262732;15496428;15824259 False 3 67;33;0 4.3 True ENSG00000127838 ENSG00000127838 HGNC:9153 PRRT2 gene PRRT2 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Seizures, benign familial infantile, 2, 605751;dystonia and occasionally hemiplegic migraine and epilepsy;Episodic kinesigenic dyskinesia 1, 128200;Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 22744660;22101681;22120146;22399141 False 3 67;33;0 4.3 True ENSG00000167371 ENSG00000167371 HGNC:30500 RHOBTB2 gene RHOBTB2 Expert Review Green;Literature;NHS GMS Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 64, OMIM:618004;developmental and epileptic encephalopathy, 64, MONDO:0033373 29276004;33504645;37165955 False 3 100;0;0 4.3 False ENSG00000008853 ENSG00000008853 HGNC:18756 SCN1A gene SCN1A Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208;Epilepsy, generalized, with febrile seizures plus, type 2, 604403;Migraine, familial hemiplegic, 3, 609634;several epilepsy, convulsion and migraine disorders 16054936;19332696 False 3 67;33;0 4.3 True ENSG00000144285 ENSG00000144285 HGNC:10585 SLC1A3 gene SLC1A3 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia, type 6, 612656 27829685;16116111;19139306 False 3 67;33;0 4.3 True ENSG00000079215 ENSG00000079215 HGNC:10941 SLC2A1 gene SLC2A1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal EPILEPSY, IDIOPATHIC GENERALIZED;Dystonia 9 (paroxysmal choreoathetosis with episodic ataxia), 601042;paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia;GLUT1 deficiency syndrome 2, childhood onset, 612126;GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 18451999;19630075;18577546 False 3 67;33;0 4.3 True ENSG00000117394 ENSG00000117394 HGNC:11005 SLC6A5 gene SLC6A5 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 3, 614618 16751771 False 3 60;40;0 4.3 True ENSG00000165970 ENSG00000165970 HGNC:11051 VAMP2 gene VAMP2 Expert Review Green;London North GLH;NHS GMS Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown axial hypotonia;intellectual disability;autistic features;central visual impairment;hyperkinetic movement disorder;epilepsy or electroencephalography abnormalities 30929742 False 3 50;50;0 4.3 False ENSG00000220205 ENSG00000220205 HGNC:12643 CACNB4 gene CACNB4 Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia, type 5, 613855 10762541;18446307;https://n.neurology.org/content/86/16_Supplement/P5.391 False 2 14;86;0 4.3 True ENSG00000182389 ENSG00000182389 HGNC:1404 CSNK1D gene CSNK1D Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Advanced sleep-phase syndrome, familial, 2, OMIM:615224 25660813;23636092;15800623 False 2 40;60;0 4.3 True ENSG00000141551 ENSG00000141551 HGNC:2452 KCNK18 gene KCNK18 Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Migraine, with or without aura, susceptibility to, 13, 613656 20871611;22355750 False 2 0;80;20 4.3 True ENSG00000186795 ENSG00000186795 HGNC:19439 MOG gene MOG Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Narcolepsy 7, 614250 21907016 False 2 20;80;0 4.3 True ENSG00000204655 ENSG00000204655 HGNC:7197 PDE2A gene PDE2A Expert Review Amber;London North GLH;NHS GMS Paroxysmal central nervous system disorders Neurology BIALLELIC, autosomal or pseudoautosomal infantile onset chorea predominant movement disorder 29392776 False 2 40;60;0 4.3 True ENSG00000186642 ENSG00000186642 HGNC:8777 SCN8A gene SCN8A Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Seizures, benign familial infantile, 5, OMIM:617080;Paroxysmal kinesigenic dyskinesias;?Myoclonus, familial, 2, OMIM:618364 26677014 False 2 0;60;40 4.3 False ENSG00000196876 ENSG00000196876 HGNC:10596