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 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 1.17 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 1.17 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 1.17 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 1.17 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 1.17 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 1.17 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 1.17 False ENSG00000196663 ENSG00000196663 HGNC:19957