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 TSC1 gene TSC1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Classical tuberous sclerosis Neurodevelopmental disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Focal cortical dysplasia, Taylor balloon cell type, 607341Lymphangioleiomyomatosis, 606690Tuberous sclerosis-1, 191100;Tuberous Sclerosis PMID: 17304050 False 3 100;0;0 1.2 True ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Classical tuberous sclerosis Neurodevelopmental disorders Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis-2, 613254;Tuberous Sclerosis PMID: 17304050 False 3 100;0;0 1.2 True ENSG00000103197 ENSG00000103197 HGNC:12363