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 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 1.17 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 1.17 False ENSG00000118271 ENSG00000118271 HGNC:12405