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 ATL1 gene ATL1 Expert Review Green;Literaure;Review Pain syndromes Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, hereditary sensory, type ID, 613708;HSN1D;Hereditary spastic paraplegia, 182600;Hereditary sensory neuropathy 21194679;22340599 False 3 100;0;0 1.12 False ENSG00000198513 ENSG00000198513 HGNC:11231 ATL3 gene ATL3 Expert Review Green;Literaure;Review Pain syndromes Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, hereditary sensory, type IF, 615632;HSN1F 24459106;24736309;24459106 False 3 50;50;0 1.12 False ENSG00000184743 ENSG00000184743 HGNC:24526 ELP1 gene ELP1 BRIDGE Study Tier 1 Gene;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Pain syndromes Channelopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dysautonomia, familial, OMIM:223900 8102296;11179021;11179008;17985250 False 3 67;33;0 1.12 False ENSG00000070061 ENSG00000070061 HGNC:5959 GLA gene GLA Expert list;Expert Review Green Pain syndromes Channelopathies Neurology and neurodevelopmental disorders 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 3 100;0;0 1.12 False ENSG00000102393 ENSG00000102393 HGNC:4296 KIF1A gene KIF1A Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literaure;Review Pain syndromes Channelopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory, type IIC, OMIM:614213 21820098;25265257 False 3 50;50;0 1.12 False ENSG00000130294 ENSG00000130294 HGNC:888 NGF gene NGF BRIDGE Study Tier 1 Gene;Emory Genetics Laboratory;Expert Review Green;UKGTN Pain syndromes Channelopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary sensory neuropathy type V;HSAN 5;Neuropathy, hereditary sensory and autonomic, type V, 608654;Congenital sensory neuropathy with selective loss of small myelinated fibers 14976160;20978020;26562335;15131306 False 3 67;33;0 1.12 False ENSG00000134259 ENSG00000134259 HGNC:7808 NTRK1 gene NTRK1 BRIDGE Study Tier 1 Gene;Expert Review Green Pain syndromes Channelopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary sensory neuropathy type IV;HSAN 4;Insensitivity to pain, congenital, with anhidrosis, 256800 8696348;11668614;18077166 False 3 100;0;0 1.12 False ENSG00000198400 ENSG00000198400 HGNC:8031 PRDM12 gene PRDM12 BRIDGE Study Tier 1 Gene;Expert Review Green Pain syndromes Channelopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal HSAN VIII;insensitivity to pain;Hereditary sensory and autonomic neuropathy type VIII;HSAN 8;Neuropathy, hereditary sensory and autonomic, type VIII, 616488 26005867;26975306;25891934 False 3 100;0;0 1.12 False ENSG00000130711 ENSG00000130711 HGNC:13997 PRNP gene PRNP Expert Review;Expert Review Green Pain syndromes Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cerebral amyloid angiopathy, PRNP-related, 137440" 27716661; 26768678; 25287017; 24224623 False 3 100;0;0 1.12 False ENSG00000171867 ENSG00000171867 HGNC:9449 RAB7A gene RAB7A BRIDGE Study Tier 1 Gene;Expert Review Green Pain syndromes Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary motor and sensory neuropathy IIB;HSAN1/2B;Charcot-Marie-Tooth disease, type 2B, 600882 12545426;17060578; 15455439 False 3 100;0;0 1.12 False ENSG00000075785 ENSG00000075785 HGNC:9788 RETREG1 gene RETREG1 BRIDGE Study Tier 1 Gene;Expert Review Green Pain syndromes Channelopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary sensory and autonomic neuropathy;HSAN 2B;Neuropathy, hereditary sensory and autonomic, type IIB, 613115 19838196;21115472;24327336 False 3 100;0;0 1.12 False ENSG00000154153 ENSG00000154153 HGNC:25964 SCN10A gene SCN10A BRIDGE Study Tier 1 Gene;Expert Review Green Pain syndromes Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial episodic pain syndrome-2;Episodic pain syndrome, familial, 2, 615551;Painful small fibre neuropathy;SFN;Small fibre neuropathy 24006052;23115331;26711856;24776970;25250524;27598514;28665811;24813307;25316021 False 3 100;0;0 1.12 False ENSG00000185313 ENSG00000185313 HGNC:10582 SCN11A gene SCN11A BRIDGE Study Tier 1 Gene;Expert Review Green Pain syndromes Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial episodic pain syndrome;Hereditary sensory and autonomic neuropathy type VII;Neuropathy, hereditary sensory and autonomic, type VII, 615548;Episodic pain syndrome, familial, 3, 615552 24207120;24776970;24036948;28298626;27503742;26645915;28665811;25316021;24813307 False 3 100;0;0 1.12 False ENSG00000168356 ENSG00000168356 HGNC:10583 SCN9A gene SCN9A BRIDGE Study Tier 1 Gene;Expert Review Green Pain syndromes Channelopathies Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Erythermalgia, primary, AD, 133020;Small fiber neuropathy, AD,133020;HSAN2D, autosomal recessive, AR, 243000;Insensitivity to pain, congenital, AR, 243000;Paroxysmal extreme pain disorder, AD, 167400 17167479;14985375;28665811;28235406;24813307;25316021;16392115;16216943;1536168;15958509;16392115;17167479;17470132;23596073;17145499;24817410;17679678;28665811 False 3 100;0;0 1.12 False ENSG00000169432 ENSG00000169432 HGNC:10597 SEPT9 gene SEPT9 BRIDGE Study Tier 1 Gene;Expert Review Green Pain syndromes Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary neuralgic amyotrophy;Amyotrophy, hereditary neuralgic, 162100 16186812;19451530;21556032 False 3 100;0;0 1.12 False ENSG00000184640 ENSG00000184640 HGNC:7323 SPTLC1 gene SPTLC1 BRIDGE Study Tier 1 Gene;Expert Review Green Pain syndromes Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary sensory neuropathy type IA;HSAN 1;Neuropathy, hereditary sensory and autonomic, type IA, 162400 11242106;15037712;11242114 False 3 100;0;0 1.12 False ENSG00000090054 ENSG00000090054 HGNC:11277 SPTLC2 gene SPTLC2 BRIDGE Study Tier 1 Gene;Expert Review Green Pain syndromes Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary sensory and autonomic neuropathy type IC;HSAN 1;Neuropathy, hereditary sensory and autonomic, type IC, 613640 12207934;20920666;23658386;27025386;26681808 False 3 100;0;0 1.12 False ENSG00000100596 ENSG00000100596 HGNC:11278 TRPA1 gene TRPA1 Expert Review Green;Literaure;Review Pain syndromes Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic pain syndrome, familial, 615040;Familial episodic pain syndrome type I 20547126;16564016;21468319;28314413;24778270;24564660;20718100;28436534 False 3 50;50;0 1.12 False ENSG00000104321 ENSG00000104321 HGNC:497 TTR gene TTR BRIDGE Study Tier 1 Gene;Expert Review Green Pain syndromes Channelopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary amyloidosis;Amyloidosis, hereditary, transthyretin-related, 105210;Familial amyloid polyneuropathy;Carpal tunnel syndrome, familial, 115430 3011930;14640030;28678039;26800456;25069833;12771253;19365058;16433699;8309582;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;30878017;31131842;31118583;31111153;30120737 False 3 100;0;0 1.12 False ENSG00000118271 ENSG00000118271 HGNC:12405 WNK1 gene WNK1 BRIDGE Study Tier 1 Gene;Expert Review Green Pain syndromes Channelopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type II, OMIM:201300 15060842;18521183;21625937;15455397;15911806;16946995;16636245 False 3 100;0;0 1.12 False ENSG00000060237 ENSG00000060237 HGNC:14540 MPV17 gene MPV17 Expert Review Amber;Literaure;Review Pain syndromes Channelopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810;Navajo neurohepatopathy;Pain insensitivity 185990;11431741;16582910;16909392;23714749;22508010 False 2 0;50;50 1.12 False ENSG00000115204 ENSG00000115204 HGNC:7224 NAGLU gene NAGLU Emory Genetics Laboratory;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Literaure;Review;UKGTN Pain syndromes Channelopathies Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920;Late-onset painful sensory neuropathy, AD 25818867;12202988 False 2 0;100;0 1.12 False ENSG00000108784 ENSG00000108784 HGNC:7632 CCT5 gene CCT5 Literaure;Review Pain syndromes Channelopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory, with spastic paraplegia, 256840;HSAN with spastic paraplegia 16399879;25124038;28623285;12874111 False 1 0;0;100 1.12 False ENSG00000150753 ENSG00000150753 HGNC:1618 CLTCL1 gene CLTCL1 Literaure;Review Pain syndromes Channelopathies Neurology and neurodevelopmental disorders Unknown Congenital insensitivity to pain 26068709 False 1 0;0;100 1.12 False ENSG00000070371 ENSG00000070371 HGNC:2093 FAAHP1 gene FAAHP1 Literature Pain syndromes Channelopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pain insensitivity 30929760 False 1 0;0;100 1.12 False ENSG00000232022 ENSG00000232022 HGNC:50679 NMNAT2 gene NMNAT2 Expert Review Red;Research Pain syndromes Channelopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal polyneuropathy;erythromelalgia 31132363 False 1 100;0;0 1.12 False ENSG00000157064 ENSG00000157064 HGNC:16789