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 AKR1C2 gene AKR1C2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology Unknown Obesity, hyperphagia, and developmental delay False 1 0;33;67 4.3 True ENSG00000151632 ENSG00000151632 HGNC:385 ALPK1 gene ALPK1 Expert Review Red;Literature;NHS GMS Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ROSAH syndrome, OMIM:614979;optic nerve edema-splenomegaly syndrome, MONDO:0013999 30967659;31939038;35868845 False 1 50;0;50 4.3 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000073331 ENSG00000073331 HGNC:20917 ATL1 gene ATL1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 3A, autosomal dominant, 182600;Neuropathy, hereditary sensory, type ID, 613708;HSN1D;Hereditary sensory neuropathy 21194679;22340599 False 1 0;33;67 4.3 True ENSG00000198513 ENSG00000198513 HGNC:11231 ATL3 gene ATL3 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, hereditary sensory, type IF, 615632;HSN1F 24736309;24459106 False 1 0;33;67 4.3 True ENSG00000184743 ENSG00000184743 HGNC:24526 ATN1 gene ATN1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology Other Dentatorubral-pallidoluysian atrophy, OMIM:125370 False 1 0;33;67 4.3 True Other - please provide details in the comments ENSG00000111676 ENSG00000111676 HGNC:3033 ATP1A4 gene ATP1A4 Expert Review Red;Literature Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted familial hemiplegic migraine, MONDO:0000700 32549268 False 1 0;0;100 4.3 False ENSG00000132681 ENSG00000132681 HGNC:14073 ATP2A1 gene ATP2A1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology BIALLELIC, autosomal or pseudoautosomal Brody myopathy, 601003 9367679;8841193 False 1 0;33;67 4.3 True ENSG00000196296 ENSG00000196296 HGNC:811 ATP7B gene ATP7B Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology BIALLELIC, autosomal or pseudoautosomal Wilson disease, 277900 20301685 False 1 0;33;67 4.3 True ENSG00000123191 ENSG00000123191 HGNC:870 CACNA1S gene CACNA1S Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypokalemic periodic paralysis, type 1, 170400 15534250;18835861 False 1 0;33;67 4.3 True ENSG00000081248 ENSG00000081248 HGNC:1397 CCT5 gene CCT5 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory, with spastic paraplegia, 256840;HSAN with spastic paraplegia 28623285;12874111;16399879;25124038 False 1 0;33;67 4.3 True ENSG00000150753 ENSG00000150753 HGNC:1618 CLCN1 gene CLCN1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myotonia levior, recessive;Myotonia congenita, recessive, 255700;Hyperkalemic Periodic Paralysis;Myotonia Congenita;Myotonia;Myotonia congenita, dominant, 160800 11840191;18337100;22649220 False 1 0;33;67 4.3 True ENSG00000188037 ENSG00000188037 HGNC:2019 CLTCL1 gene CLTCL1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology Unknown Congenital insensitivity to pain 26068709 False 1 0;33;67 4.3 True ENSG00000070371 ENSG00000070371 HGNC:2093 CNBP gene CNBP Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 2, OMIM:602668;Myotonic dystrophy type 2, MONDO:0011266 False 1 0;33;67 4.3 True ENSG00000169714 ENSG00000169714 HGNC:13164 CSTB gene CSTB Expert Review Red;London North GLH;NHS GMS Paroxysmal central nervous system disorders Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 False 1 0;25;75 4.3 True ENSG00000160213 ENSG00000160213 HGNC:2482 DMPK gene DMPK Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology Other Myotonic dystrophy 1, OMIM:160900 False 1 0;33;67 4.3 True ENSG00000104936 ENSG00000104936 HGNC:2933 EIF3G gene EIF3G Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology Unknown Narcolepsy 25669430 False 1 0;33;67 4.3 True ENSG00000130811 ENSG00000130811 HGNC:3274 ELP1 gene ELP1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology BIALLELIC, autosomal or pseudoautosomal Dysautonomia, familial, OMIM:223900 11179021;11179008;17985250;8102296 False 1 0;33;67 4.3 True ENSG00000070061 ENSG00000070061 HGNC:5959 EXT1 gene EXT1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Exostoses, multiple, type 1,133700;Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family) 2788404;Journal Sleep Research (2012), 21(Suppl 1), P891 False 1 0;33;67 4.3 True Other - please provide details in the comments ENSG00000182197 ENSG00000182197 HGNC:3512 FAAHP1 gene FAAHP1 Expert Review Red;Literature Paroxysmal central nervous system disorders Neurology BIALLELIC, autosomal or pseudoautosomal Pain insensitivity 30929760 False 1 0;25;75 4.3 True ENSG00000232022 ENSG00000232022 HGNC:50679 GLA gene GLA Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease, 301500 False 1 0;33;67 4.3 True ENSG00000102393 ENSG00000102393 HGNC:4296 HCRT gene HCRT Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Narcolepsy 1, 161400 10973318 False 1 0;33;67 4.3 True ENSG00000161610 ENSG00000161610 HGNC:4847 HLA-DQB1 gene HLA-DQB1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology Unknown Kleine-Levin hibernation syndrome 148840;narcolepsy 12473762;27305985;27081540;26283305;26126836;27253765 False 1 0;33;67 4.3 True ENSG00000179344 ENSG00000179344 HGNC:4944 HSPG2 gene HSPG2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology BIALLELIC, autosomal or pseudoautosomal Schwartz-Jampel syndrome, type 1, OMIM:255800;Schwartz-Jampel syndrome, MONDO:0009717;Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410;Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140 False 1 0;33;67 4.3 True ENSG00000142798 ENSG00000142798 HGNC:5273 HTT gene HTT Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology Other Huntington disease, OMIM:143100 False 1 0;33;67 4.3 True Other - please provide details in the comments ENSG00000197386 ENSG00000197386 HGNC:4851 KCNJ18 gene KCNJ18 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology Thyrotoxic periodic paralysis, susceptibility to, 2, 613239;Hypokalemic Periodic Paralysis, Type 1 20074522 False 1 0;33;67 4.3 True - ENSG00000260458 HGNC:39080 KCNJ2 gene KCNJ2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Andersen syndrome, OMIM:170390;Andersen-Tawil syndrome, MONDO:0008222;Episodic weakness;Periodic paralysis 16217063 False 1 0;33;67 4.3 True ENSG00000123700 ENSG00000123700 HGNC:6263 KCNJ5 gene KCNJ5 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperaldosteronism, familial, type III, 613677;Long QT syndrome 13, 613485 False 1 0;40;60 4.3 True ENSG00000120457 ENSG00000120457 HGNC:6266 KCNQ3 gene KCNQ3 Expert Review Red;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 neonatal, type 2, 121201 False 1 0;40;60 4.3 True ENSG00000184156 ENSG00000184156 HGNC:6297 KIF1A gene KIF1A Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory, type IIC, OMIM:614213 25265257;21820098 False 1 0;33;67 4.3 True ENSG00000130294 ENSG00000130294 HGNC:888 MPV17 gene MPV17 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810;Navajo neurohepatopathy;Pain insensitivity 16582910;23714749;185990;11431741;16909392;22508010 False 1 0;33;67 4.3 True ENSG00000115204 ENSG00000115204 HGNC:7224 MT-ATP6 gene MT-ATP6 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MITOCHONDRIAL Neuropathy, ataxia, and retinitis pigmentosa, 551500 False 1 0;33;67 4.3 True ENSG00000198899 ENSG00000198899 HGNC:7414 MT-ATP8 gene MT-ATP8 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MITOCHONDRIAL False 1 0;33;67 4.3 True ENSG00000228253 ENSG00000228253 HGNC:7415 NAGLU gene NAGLU Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920;Late-onset painful sensory neuropathy, AD 12202988;25818867 False 1 0;33;67 4.3 True ENSG00000108784 ENSG00000108784 HGNC:7632 NGF gene NGF Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology BIALLELIC, autosomal or pseudoautosomal Congenital sensory neuropathy with selective loss of small myelinated fibers;Neuropathy, hereditary sensory and autonomic, type V, 608654;Hereditary sensory neuropathy type V;HSAN 5 20978020;15131306;26562335;14976160 False 1 0;33;67 4.3 True ENSG00000134259 ENSG00000134259 HGNC:7808 NKX2-1 gene NKX2-1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chorea, hereditary benign 118700;Choreoathetosis, hypothyroidism, and neonatal respiratory distress 24555207;12196653 False 1 0;60;40 4.3 False ENSG00000136352 ENSG00000136352 HGNC:11825 NMNAT2 gene NMNAT2 Expert Review Red;Other Paroxysmal central nervous system disorders Neurology BIALLELIC, autosomal or pseudoautosomal polyneuropathy;erythromelalgia 31132363;31136762 False 1 0;0;100 4.3 False ENSG00000157064 ENSG00000157064 HGNC:16789 NTRK1 gene NTRK1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology BIALLELIC, autosomal or pseudoautosomal HSAN 4;Hereditary sensory neuropathy type IV;Insensitivity to pain, congenital, with anhidrosis, 256800 11668614;8696348;18077166 False 1 0;33;67 4.3 True ENSG00000198400 ENSG00000198400 HGNC:8031 NTRK2 gene NTRK2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Obesity, hyperphagia, and developmental delay, 613886;Epileptic encephalopathy, early infantile, 58, 617830 16702999;15494731 False 1 0;33;67 4.3 True ENSG00000148053 ENSG00000148053 HGNC:8032 PER2 gene PER2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Advanced sleep phase syndrome, familial, 1, 604348 11232563 False 1 0;33;67 4.3 True ENSG00000132326 ENSG00000132326 HGNC:8846 PRDM12 gene PRDM12 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type VIII, 616488;Hereditary sensory and autonomic neuropathy type VIII;HSAN 8 26975306;26005867 False 1 0;33;67 4.3 True ENSG00000130711 ENSG00000130711 HGNC:13997 PRNP gene PRNP Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebral amyloid angiopathy, PRNP-related, 137440 25287017;27716661;26768678;24224623 False 1 0;33;67 4.3 True ENSG00000171867 ENSG00000171867 HGNC:9449 PYGM gene PYGM Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology BIALLELIC, autosomal or pseudoautosomal McArdle disease, 232600 False 1 0;33;67 4.3 True ENSG00000068976 ENSG00000068976 HGNC:9726 RAB7A gene RAB7A Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary motor and sensory neuropathy IIB;HSAN1/2B;Charcot-Marie-Tooth disease, type 2B, 600882 15455439;12545426;17060578 False 1 0;33;67 4.3 True ENSG00000075785 ENSG00000075785 HGNC:9788 RETREG1 gene RETREG1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology BIALLELIC, autosomal or pseudoautosomal Hereditary sensory and autonomic neuropathy;Neuropathy, hereditary sensory and autonomic, type IIB, 613115;HSAN 2B 24327336;21115472;19838196 False 1 0;33;67 4.3 True ENSG00000154153 ENSG00000154153 HGNC:25964 RYR1 gene RYR1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Central core disease of muscle, 117000 False 1 0;33;67 4.3 True ENSG00000196218 ENSG00000196218 HGNC:10483 SCN10A gene SCN10A Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Painful small fibre neuropathy;SFN;Small fibre neuropathy;Familial episodic pain syndrome-2;Episodic pain syndrome, familial, 2, 615551 24776970;27598514;24813307;28665811;23115331;26711856;25316021;24006052;25250524 False 1 0;33;67 4.3 True ENSG00000185313 ENSG00000185313 HGNC:10582 SCN11A gene SCN11A Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial episodic pain syndrome;Episodic pain syndrome, familial, 3, 615552;Hereditary sensory and autonomic neuropathy type VII;Neuropathy, hereditary sensory and autonomic, type VII, 615548 24776970;24207120;27503742;28665811;24813307;24036948;25316021;26645915;28298626 False 1 0;33;67 4.3 True ENSG00000168356 ENSG00000168356 HGNC:10583 SCN4A gene SCN4A Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thyrotoxic Periodic Paralysis, Susceptibility To, 2;Hypokalemic periodic paralysis, type 2, 613;Potassium-Aggravated Myotonia;Hyperkalemic periodic paralysis, type 2, 170500;Myasthenic syndrome, acetazolamide-responsive, 614198;Hyperkalemic Periodic Paralysis;Episodic weakness;Myotonia;Hypokalemic Periodic Paralysis 17395131;15534250 False 1 0;33;67 4.3 True ENSG00000007314 ENSG00000007314 HGNC:10591 SCN9A gene SCN9A Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Paroxysmal extreme pain disorder, 167400;Paroxysmal Extreme Pain Disorder;Congenital Indifference to Pain;Erythermalgia, primary, AD, 133020;Paroxysmal extreme pain disorder, AD, 167400;Small fiber neuropathy, AD,133020;Febrile seizures, familial, 3B, 613863;Dysosteosclerosis;Insensitivity to pain, congenital, AR, 243000;Epilepsy, generalized, with febrile seizures plus, type 7, 613863;Erythermalgia, Primary;HSAN2D, autosomal recessive, AR, 243000;Insensitivity to pain, channelopathy-associated, 243000;Erythermalgia, primary, 133020;Hereditary Sensory Neuropathy 17145499;16392115;17679678;17470132;24813307;28665811;25316021;16216943;1536168;24817410;15958509;28235406;23596073;17167479;14985375 False 1 0;33;67 4.3 True ENSG00000169432 ENSG00000169432 HGNC:10597 SEPT9 gene SEPT9 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophy, hereditary neuralgic, 162100;Hereditary neuralgic amyotrophy 19451530;21556032;16186812 False 1 0;33;67 4.3 True ENSG00000184640 ENSG00000184640 HGNC:7323 SLC6A4 gene SLC6A4 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SLC6A4-Related Behavior Disorders;{Anxiety-related personality traits} 607834;{Obsessive-compulsive disorder} 17101915;16642437;15642926 False 1 0;33;67 4.3 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000108576 ENSG00000108576 HGNC:11050 SPR gene SPR Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 False 1 0;40;60 4.3 True ENSG00000116096 ENSG00000116096 HGNC:11257 SPTLC1 gene SPTLC1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HSAN 1;Neuropathy, hereditary sensory and autonomic, type IA, 162400;Hereditary sensory neuropathy type IA 11242114;15037712;11242106 False 1 0;33;67 4.3 True ENSG00000090054 ENSG00000090054 HGNC:11277 SPTLC2 gene SPTLC2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HSAN 1;Hereditary sensory and autonomic neuropathy type IC;Neuropathy, hereditary sensory and autonomic, type IC, 613640 27025386;26681808;20920666;12207934;23658386 False 1 0;33;67 4.3 True ENSG00000100596 ENSG00000100596 HGNC:11278 TBP gene TBP Expert Review Red;London North GLH;NHS GMS Paroxysmal central nervous system disorders Neurology Other Spinocerebellar ataxia 17, OMIM:607136;{Parkinson disease, susceptibility to}, OMIM:168600 False 1 0;25;75 4.3 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000112592 ENSG00000112592 HGNC:11588 TRPA1 gene TRPA1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Episodic pain syndrome, familial, 1, 615040;Familial episodic pain syndrome type I 28314413;20718100;28436534;24778270;16564016;20547126;24564660;21468319 False 1 0;33;67 4.3 True ENSG00000104321 ENSG00000104321 HGNC:497 TRPV4 gene TRPV4 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary motor and sensory neuropathy, type IIc, 606071;sexual disinhibition;confusion;apathi;impaired memory;impaired speech;compulsive eating and drinking (or decreased eating);irritability;recurrent hypersomnia;behavioral disturbances;transient symptoms at the end, amnesia, moderate elation and insomnia;Monozygotic twins concordant for Kleine-Levin Syndrome;altered tactile, gustative, and olphatory perceptions;normality between episodes;feeling of unreality;depression and anxiety 22547884 False 1 0;33;67 4.3 True ENSG00000111199 ENSG00000111199 HGNC:18083 TTR gene TTR Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Carpal tunnel syndrome, familial, 115430;Hereditary amyloidosis;Amyloidosis, hereditary, transthyretin-related, 105210;Familial amyloid polyneuropathy 12771253;The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. 8th ed.Benson, M. D. Amyloidosis. In: Scriver, C. R et al.: New York: McGraw-Hill . 2001.;25069833;19365058;28678039;26800456;8309582;14640030;16433699;3011930;30878017;31131842;31118583;31111153;30120737 False 1 0;33;67 4.3 True ENSG00000118271 ENSG00000118271 HGNC:12405 UBR4 gene UBR4 Expert Review Red;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia, type 8, 616055 23982692 False 1 0;25;75 4.3 True ENSG00000127481 ENSG00000127481 HGNC:30313 WNK1 gene WNK1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Paroxysmal central nervous system disorders Neurology BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type II, OMIM:201300 21625937;15911806;18521183;15455397;15060842;16636245;16946995 False 1 0;33;67 4.3 True ENSG00000060237 ENSG00000060237 HGNC:14540 ATN1_CAG str ATN1 NHS GMS;Expert Review Red;Expert list Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentatorubral-pallidoluysian atrophy, OMIM:125370 20301664;8136840;20301664;8136840;8136826;7614090 False 1 50;0;50 4.3 False ENSG00000111676 ENSG00000111676 HGNC:3033 12 7045880 7045936 6936717 6936772 CAG 36 48 CACNA1A_CAG str CACNA1A NHS GMS;Expert Review Red;Expert list Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 6, OMIM:183086 False 1 50;0;50 4.3 False ENSG00000141837 ENSG00000141837 HGNC:1388 19 13318673 13318711 13207859 13207897 CAG 19 20 CSTB_CCCCGCCCCGCG str CSTB NHS GMS;Expert Review Red;Expert list Paroxysmal central nervous system disorders Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 False 1 50;0;50 4.3 False ENSG00000160213 ENSG00000160213 HGNC:2482 21 45196328 45196351 43776429 43776470 CCCCGCCCCGCG 18 30 DMPK_CTG str DMPK NHS GMS;Expert Review Red;Expert list Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 1, OMIM:160900 False 1 50;0;50 4.3 False ENSG00000104936 ENSG00000104936 HGNC:2933 19 46273463 46273522 45770205 45770264 CTG 35 50 TBP_CAG str TBP NHS GMS;Expert Review Red;Expert list Paroxysmal central nervous system disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 17, OMIM:607136;{Parkinson disease, susceptibility to}, OMIM:168600 False 1 50;0;50 4.3 False ENSG00000112592 ENSG00000112592 HGNC:11588 6 170870996 170871109 170561908 170562021 CAG 41 49 ISCA-37468-Loss region Expert Review Red;London North GLH;NHS GMS Paroxysmal central nervous system disorders Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) short stature;severe intellectual disability;lip-smacking;exiting behavior;autistic features;hypotonia;stereotypical hand movements;eleveated serotonin levels;episodes of sudden loss of muscle tone 20485326;22365943;23414621 False 1 0;0;100 4.3 False X 43654906 43882474 3 60 cnv_loss Xp11.23 region (includes MAOA and MAOB) Loss