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;Genomics England PanelApp	Pain syndromes		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	HSN1D;Neuropathy, hereditary sensory, type ID, 613708;Hereditary spastic paraplegia, 182600;Hereditary sensory neuropathy			Pain;HP:0012531	21194679;22340599		False	3	0;0;0	0.34	False		ENSG00000198513	ENSG00000198513	HGNC:11231													
ATL3	gene	ATL3	Expert Review Green;Genomics England PanelApp	Pain syndromes		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neuropathy, hereditary sensory, type IF, 615632;HSN1F			Pain;HP:0012531	24459106;24736309		False	3	0;0;0	0.34	False		ENSG00000184743	ENSG00000184743	HGNC:24526													
DST	gene	DST	Expert Review Green;Other	Pain syndromes		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neuropathy, hereditary sensory and autonomic, type VI MIM#614653			Pain;HP:0012531	28468842;32528525;22522446;30371979		False	3	100;0;0	0.34	True		ENSG00000151914	ENSG00000151914	HGNC:1090													
ELP1	gene	ELP1	Expert Review Green;Genomics England PanelApp	Pain syndromes		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Familial dysautonomia;NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III;Dysautonomia, familial, 223900			Pain;HP:0012531	17985250;11179021;11179008;8102296		False	3	0;0;0	0.34	False		ENSG00000070061	ENSG00000070061	HGNC:5959													
GLA	gene	GLA	Expert Review Green;Genomics England PanelApp	Pain syndromes		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"			Pain;HP:0012531			False	3	0;0;0	0.34	False		ENSG00000102393	ENSG00000102393	HGNC:4296													
KIF1A	gene	KIF1A	Expert Review Green;Genomics England PanelApp	Pain syndromes		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Hereditary Sensory and Autonomic Neuropathy, Type II;Neuropathy, hereditary sensory, type IIC, 614213			Pain;HP:0012531	25265257;21820098		False	3	0;0;0	0.34	False		ENSG00000130294	ENSG00000130294	HGNC:888													
NGF	gene	NGF	Expert Review Green;Genomics England PanelApp	Pain syndromes		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neuropathy, hereditary sensory and autonomic, type V, 608654;HSAN 5;Congenital sensory neuropathy with selective loss of small myelinated fibers;Hereditary sensory neuropathy type V			Pain;HP:0012531	26562335;20978020;14976160;15131306		False	3	0;0;0	0.34	False		ENSG00000134259	ENSG00000134259	HGNC:7808													
NTRK1	gene	NTRK1	Expert Review Green;Genomics England PanelApp	Pain syndromes		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	HSAN 4;Insensitivity to pain, congenital, with anhidrosis, 256800;Hereditary sensory neuropathy type IV			Pain;HP:0012531	11668614;8696348;18077166		False	3	0;0;0	0.34	False		ENSG00000198400	ENSG00000198400	HGNC:8031													
PRDM12	gene	PRDM12	Expert Review Green;Genomics England PanelApp	Pain syndromes		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	insensitivity to pain;Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488;MONDO:0014662			Pain;HP:0012531	26975306;25891934;26005867;33789102;33010785;32828702		False	3	100;0;0	0.34	True		ENSG00000130711	ENSG00000130711	HGNC:13997													
PRNP	gene	PRNP	Expert Review Green;Genomics England PanelApp	Pain syndromes		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Cerebral amyloid angiopathy, PRNP-related,	137440"			Pain;HP:0012531	27716661;24224623;25287017;26768678		False	3	0;0;0	0.34	False		ENSG00000171867	ENSG00000171867	HGNC:9449													
RAB7A	gene	RAB7A	Expert Review Green;Genomics England PanelApp	Pain syndromes		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Charcot-Marie-Tooth disease, type 2B, MIM# 600882;MONDO:0010949			Pain;HP:0012531	17060578;15455439;12545426		False	3	100;0;0	0.34	True		ENSG00000075785	ENSG00000075785	HGNC:9788													
RETREG1	gene	RETREG1	Expert Review Green;Genomics England PanelApp	Pain syndromes		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115;MONDO:0013142			Pain;HP:0012531	19838196;21115472;24327336;24327336;31737055;31596031		False	3	100;0;0	0.34	True		ENSG00000154153	ENSG00000154153	HGNC:25964													
SCN10A	gene	SCN10A	Expert Review Green;Genomics England PanelApp	Pain syndromes		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Small fibre neuropathy;Episodic pain syndrome, familial, 2, MIM# 615551			Pain;HP:0012531	33775738;30731422;30554136;23115331;26711856;24776970;25316021;25250524;24006052;28665811;27598514;24813307		False	3	100;0;0	0.34	True		ENSG00000185313	ENSG00000185313	HGNC:10582													
SCN11A	gene	SCN11A	Expert Review Green;Genomics England PanelApp	Pain syndromes		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Episodic pain syndrome, familial, 3, MIM# 615552			Pain;HP:0012531	30554136;28298626;24776970;25316021;24207120;27503742;24036948;28665811;24813307;26645915		False	3	100;0;0	0.34	True	Other	ENSG00000168356	ENSG00000168356	HGNC:10583													
SCN9A	gene	SCN9A	Expert Review Green;Genomics England PanelApp	Pain syndromes		Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	HSAN2D, autosomal recessive, AR, 243000;Erythermalgia, primary, AD, 133020;Small fiber neuropathy, AD,133020;Insensitivity to pain, congenital, AR, 243000;Paroxysmal extreme pain disorder, AD, 167400			Pain;HP:0012531	16392115;17167479;17470132;17145499;17679678;25316021;15958509;28665811;23596073;24817410;28235406;16216943;24813307;14985375;1536168		False	3	0;0;0	0.34	False		ENSG00000169432	ENSG00000169432	HGNC:10597													
SEPT9	gene	SEPT9	Expert Review Green;Genomics England PanelApp	Pain syndromes		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Amyotrophy, hereditary neuralgic, 162100;Hereditary neuralgic amyotrophy			Pain;HP:0012531	21556032;16186812;19451530		False	3	100;0;0	0.34	True		ENSG00000184640	ENSG00000184640	HGNC:7323													
SPTLC1	gene	SPTLC1	Expert Review Green;Genomics England PanelApp	Pain syndromes		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			Pain;HP:0012531	11242114;11242106;15037712		False	3	0;0;0	0.34	False		ENSG00000090054	ENSG00000090054	HGNC:11277													
SPTLC2	gene	SPTLC2	Expert Review Green;Genomics England PanelApp	Pain syndromes		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			Pain;HP:0012531	26681808;23658386;12207934;27025386;20920666		False	3	0;0;0	0.34	False		ENSG00000100596	ENSG00000100596	HGNC:11278													
TTR	gene	TTR	Expert Review Green;Genomics England PanelApp	Pain syndromes		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			Pain;HP:0012531	14640030;26800456;12771253;30120737;16433699;25069833;30878017;31111153;31118583;28678039;19365058;31131842;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;3011930		False	3	0;0;0	0.34	False		ENSG00000118271	ENSG00000118271	HGNC:12405													
WNK1	gene	WNK1	Expert Review Green;Genomics England PanelApp	Pain syndromes		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neuropathy, hereditary sensory and autonomic, type II, 201300;HSAN 2;Hereditary sensory and autonomic neuropathy type IIA			Pain;HP:0012531	15911806;16636245;16946995;21625937;15455397;18521183;15060842		False	3	0;0;0	0.34	False		ENSG00000060237	ENSG00000060237	HGNC:14540													
CCT5	gene	CCT5	Expert Review Amber;Genomics England PanelApp	Pain syndromes		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neuropathy, hereditary sensory, with spastic paraplegia, 256840;HSAN with spastic paraplegia			Pain;HP:0012531	12874111;16399879;25124038;28623285		False	2	0;100;0	0.34	True		ENSG00000150753	ENSG00000150753	HGNC:1618													
CLTCL1	gene	CLTCL1	Expert Review Amber;Genomics England PanelApp;Literaure;Review	Pain syndromes		Neurology and neurodevelopmental disorders	Unknown	Congenital insensitivity to pain			Pain;HP:0012531	26068709;29402896		False	2	0;100;0	0.34	True		ENSG00000070371	ENSG00000070371	HGNC:2093													
NAGLU	gene	NAGLU	Expert Review Amber;Genomics England PanelApp	Pain syndromes		Neurology and neurodevelopmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920;Late-onset painful sensory neuropathy, AD			Pain;HP:0012531	25818867;12202988		False	2	0;100;0	0.34	True		ENSG00000108784	ENSG00000108784	HGNC:7632													
NMNAT2	gene	NMNAT2	Expert Review Amber;Genomics England PanelApp;Research	Pain syndromes		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	polyneuropathy;erythromelalgia			Pain;HP:0012531	31132363;25271157;20126265		False	2	0;100;0	0.34	True		ENSG00000157064	ENSG00000157064	HGNC:16789													
TRPA1	gene	TRPA1	Expert Review Amber;Genomics England PanelApp	Pain syndromes		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Familial episodic pain syndrome type I;Episodic pain syndrome, familial,  615040			Pain;HP:0012531	28314413;21468319;24778270;20718100;16564016;28436534;24564660;20547126		False	2	0;100;0	0.34	True		ENSG00000104321	ENSG00000104321	HGNC:497