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 AAAS gene AAAS Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial dysautonomia BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome, OMIM:231550;Triple-A syndrome, MONDO:0009279 11062474, 7895750 False 3 100;0;0 1.18 False ENSG00000094914 ENSG00000094914 HGNC:13666 ELP1 gene ELP1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial dysautonomia BIALLELIC, autosomal or pseudoautosomal Dysautonomia, familial, OMIM:223900 11179008;27317387;10090896;26769677;12687659 False 3 100;0;0 1.18 False ENSG00000070061 ENSG00000070061 HGNC:5959 GMPPA gene GMPPA Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen Familial dysautonomia BIALLELIC, autosomal or pseudoautosomal Alacrima, achalasia, and mental retardation syndrome, 615510 24035193 False 3 100;0;0 1.18 False ENSG00000144591 ENSG00000144591 HGNC:22923 KIF1A gene KIF1A Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial dysautonomia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neuropathy, hereditary sensory, type IIC, OMIM:614213;NESCAV syndrome, OMIM:614255 21820098;21089229;32096284 False 3 50;50;0 1.18 False ENSG00000130294 ENSG00000130294 HGNC:888 NGF gene NGF Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial dysautonomia BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type V 608654 14976160;20978020;23176824;19038341 False 3 100;0;0 1.18 False ENSG00000134259 ENSG00000134259 HGNC:7808 NTRK1 gene NTRK1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial dysautonomia BIALLELIC, autosomal or pseudoautosomal "Insensitivity to pain, congenital, with anhidrosis 256800" 26579324;25316729 False 3 100;0;0 1.18 False ENSG00000198400 ENSG00000198400 HGNC:8031 PHOX2B gene PHOX2B Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial dysautonomia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Central hypoventilation syndrome, congenital, with or without Hirschsprung disease 209880 12640453, 20301600 False 3 100;0;0 1.18 False ENSG00000109132 ENSG00000109132 HGNC:9143 PRDM12 gene PRDM12 Expert Review Green;Other Familial dysautonomia BIALLELIC, autosomal or pseudoautosomal " Neuropathy, hereditary sensory and autonomic, type VIII 616488" 26005867 False 3 100;0;0 1.18 False ENSG00000130711 ENSG00000130711 HGNC:13997 RETREG1 gene RETREG1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial dysautonomia BIALLELIC, autosomal or pseudoautosomal " Neuropathy, hereditary sensory and autonomic, type IIB 613115" 19838196; 24327336 False 3 100;0;0 1.18 False ENSG00000154153 ENSG00000154153 HGNC:25964 SCN11A gene SCN11A Expert Review Green;Radboud University Medical Center, Nijmegen Familial dysautonomia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neuropathy, hereditary sensory and autonomic, type VII 615548" 24036948;26746779;25118027 False 3 50;0;50 1.18 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000168356 ENSG00000168356 HGNC:10583 SCN9A gene SCN9A Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial dysautonomia BIALLELIC, autosomal or pseudoautosomal HSAN2D, autosomal recessive, 243000; Insensitivity to pain, congenital, 243000 23596073 False 3 50;50;0 1.18 False ENSG00000169432 ENSG00000169432 HGNC:10597 SPTLC1 gene SPTLC1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial dysautonomia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neuropathy, hereditary sensory and autonomic, type IA 162400" 19651702; 11242114; 19132419 False 3 100;0;0 1.18 False ENSG00000090054 ENSG00000090054 HGNC:11277 SPTLC2 gene SPTLC2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial dysautonomia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neuropathy, hereditary sensory and autonomic, type IC 613640" 20920666;27025386;26573920;23658386 False 3 100;0;0 1.18 False ENSG00000100596 ENSG00000100596 HGNC:11278 WNK1 gene WNK1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial dysautonomia BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type II, OMIM:201300 18521183;14610273;15455397;15060842 False 3 100;0;0 1.18 False ENSG00000060237 ENSG00000060237 HGNC:14540 PRNP gene PRNP Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial dysautonomia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Insomnia, fatal familial 600072" 1439789; 16227536 False 2 50;0;50 1.18 False ENSG00000171867 ENSG00000171867 HGNC:9449 TTR gene TTR Emory Genetics Laboratory;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial dysautonomia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, hereditary, transthyretin-related 105210 12978172;30878017;31131842;31118583;31111153;30120737 False 2 100;0;0 1.18 False ENSG00000118271 ENSG00000118271 HGNC:12405 ATL1 gene ATL1 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Familial dysautonomia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neuropathy, hereditary sensory, type ID 613708" 21194679;22340599 False 1 50;0;50 1.18 False ENSG00000198513 ENSG00000198513 HGNC:11231 ATL3 gene ATL3 Expert Review Red;Radboud University Medical Center, Nijmegen Familial dysautonomia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neuropathy, hereditary sensory, type IF 615632" 24736309;24459106 False 1 50;0;50 1.18 False ENSG00000184743 ENSG00000184743 HGNC:24526 COQ2 gene COQ2 Expert Review Red;Literature Familial dysautonomia BOTH monoallelic and biallelic, autosomal or pseudoautosomal Multiple system atrophy, susceptibility to, 146500 17420317 False 1 0;0;100 1.18 False ENSG00000173085 ENSG00000173085 HGNC:25223 DNMT1 gene DNMT1 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial dysautonomia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neuropathy, hereditary sensory, type IE 614116" 21532572; 23365052 False 1 100;0;0 1.18 False ENSG00000130816 ENSG00000130816 HGNC:2976 DST gene DST Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial dysautonomia BIALLELIC, autosomal or pseudoautosomal "Neuropathy, hereditary sensory and autonomic, type VI 614653" 22522446;26043942;25195653;24381311 False 1 0;33;67 1.18 True ENSG00000151914 ENSG00000151914 HGNC:1090 MYO1H gene MYO1H Expert Review Red;Literature Familial dysautonomia BIALLELIC, autosomal or pseudoautosomal ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482 28779001 False 1 0;0;100 1.18 False ENSG00000174527 ENSG00000174527 HGNC:13879 TECPR2 gene TECPR2 Expert Review Red;Radboud University Medical Center, Nijmegen Familial dysautonomia BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 49, autosomal recessive 615031" 23176824;26542466 False 1 100;0;0 1.18 False ENSG00000196663 ENSG00000196663 HGNC:19957