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 ABCC9 gene ABCC9 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1O ;Dilated Cardiomyopathy, Dominant False 3 0;0;100 1.35 True ENSG00000069431 ENSG00000069431 HGNC:60 ACTC1 gene ACTC1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1R False 3 0;0;100 1.35 True ENSG00000159251 ENSG00000159251 HGNC:143 ACTN2 gene ACTN2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dilated Cardiomyopathy, Dominant False 3 0;0;100 1.35 True ENSG00000077522 ENSG00000077522 HGNC:164 BAG3 gene BAG3 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1HH False 3 100;0;0 1.35 True ENSG00000151929 ENSG00000151929 HGNC:939 CSRP3 gene CSRP3 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1M False 3 0;0;100 1.35 True ENSG00000129170 ENSG00000129170 HGNC:2472 DES gene DES Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1I, False 3 0;0;100 1.35 True ENSG00000175084 ENSG00000175084 HGNC:2770 DMD gene DMD Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cardiomyopathy, dilated, 3B;Dilated Cardiomyopathy, X-Linked False 3 100;0;0 1.35 True ENSG00000198947 ENSG00000198947 HGNC:2928 DSP gene DSP Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dilated cardiomyopathy with woolly hair and keratoderma False 3 100;0;0 1.35 True ENSG00000096696 ENSG00000096696 HGNC:3052 EPG5 gene EPG5 Expert Review;Expert Review Green Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Vici syndrome, 242840; IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM 23222957;25331754;26917586;26395118;23838600;23674064;28624465 False 3 0;0;0 1.35 False ENSG00000152223 ENSG00000152223 HGNC:29331 EYA4 gene EYA4 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1J False 3 0;100;0 1.35 True ENSG00000112319 ENSG00000112319 HGNC:3522 FKTN gene FKTN Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1X;Dilated Cardiomyopathy, Recessive http://europepmc.org/abstract/MED/17036286 False 3 0;100;0 1.35 True ENSG00000106692 ENSG00000106692 HGNC:3622 LDB3 gene LDB3 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated 1C False 3 0;0;100 1.35 True ENSG00000122367 ENSG00000122367 HGNC:15710 LMNA gene LMNA Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1A False 3 100;0;0 1.35 True ENSG00000160789 ENSG00000160789 HGNC:6636 MYBPC3 gene MYBPC3 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1MM;Dilated cardiomyopathy; Left ventricular non-compaction False 3 0;0;100 1.35 True ENSG00000134571 ENSG00000134571 HGNC:7551 MYH6 gene MYH6 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1EE False 3 0;0;100 1.35 True ENSG00000197616 ENSG00000197616 HGNC:7576 MYH7 gene MYH7 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1S False 3 100;0;0 1.35 True ENSG00000092054 ENSG00000092054 HGNC:7577 NEXN gene NEXN Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1CC False 3 0;0;100 1.35 True ENSG00000162614 ENSG00000162614 HGNC:29557 PLN gene PLN Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1P False 3 100;0;0 1.35 True ENSG00000198523 ENSG00000198523 HGNC:9080 RAB3GAP2 gene RAB3GAP2 Expert Review;Expert Review Green Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal 212720;614225 16532399 False 3 100;0;0 1.35 False ENSG00000118873 ENSG00000118873 HGNC:17168 RBM20 gene RBM20 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1DD False 3 100;0;0 1.35 True ENSG00000203867 ENSG00000203867 HGNC:27424 SCN5A gene SCN5A Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1E 28391114 False 3 100;0;0 1.35 True ENSG00000183873 ENSG00000183873 HGNC:10593 SGCD gene SGCD Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1L False 3 0;100;0 1.35 True ENSG00000170624 ENSG00000170624 HGNC:10807 SLC40A1 gene SLC40A1 Expert Review;Expert Review Green Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hemochromatosis, type 4 606069 False 3 100;0;0 1.35 False ENSG00000138449 ENSG00000138449 HGNC:10909 TAZ gene TAZ Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Dilated Cardiomyopathy, X-Linked False 3 100;0;0 1.35 True ENSG00000102125 ENSG00000102125 HGNC:11577 TCAP gene TCAP Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1N False 3 0;0;100 1.35 True ENSG00000173991 ENSG00000173991 HGNC:11610 TFR2 gene TFR2 Expert Review;Expert Review Green Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 3 604250 False 3 100;0;0 1.35 False ENSG00000106327 ENSG00000106327 HGNC:11762 TNNC1 gene TNNC1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1Z False 3 0;0;100 1.35 True ENSG00000114854 ENSG00000114854 HGNC:11943 TNNI3 gene TNNI3 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, 2A,; Cardiomyopathy, dilated, 1FF False 3 100;0;0 1.35 True ENSG00000129991 ENSG00000129991 HGNC:11947 TNNT2 gene TNNT2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1D False 3 100;0;0 1.35 True ENSG00000118194 ENSG00000118194 HGNC:11949 TPM1 gene TPM1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1Y False 3 100;0;0 1.35 True ENSG00000140416 ENSG00000140416 HGNC:12010 TTN gene TTN Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1G False 3 100;0;0 1.35 True ENSG00000155657 ENSG00000155657 HGNC:12403 VCL gene VCL Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1W False 3 100;0;0 1.35 True ENSG00000035403 ENSG00000035403 HGNC:12665 ANKRD1 gene ANKRD1 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dilated Cardiomyopathy, Dominant False 2 0;0;100 1.35 False ENSG00000148677 ENSG00000148677 HGNC:15819 CRYAB gene CRYAB Emory Genetics Laboratory;Expert list;Radboud University Medical Center, Nijmegen Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders Cardiomyopathy, dilated, 1II, False 2 0;0;100 1.35 False ENSG00000109846 ENSG00000109846 HGNC:2389 GATAD1 gene GATAD1 Emory Genetics Laboratory;Expert list;Radboud University Medical Center, Nijmegen Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders Cardiomyopathy, dilated, 2B False 2 0;100;0 1.35 False ENSG00000157259 ENSG00000157259 HGNC:29941 MYPN gene MYPN Emory Genetics Laboratory;Expert list;Radboud University Medical Center, Nijmegen Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders Cardiomyopathy, dilated, 1KK False 2 0;0;100 1.35 False ENSG00000138347 ENSG00000138347 HGNC:23246 PSEN1 gene PSEN1 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1U False 2 0;100;0 1.35 False ENSG00000080815 ENSG00000080815 HGNC:9508 PSEN2 gene PSEN2 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Dilated Cardiomyopathy (DCM) Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1V False 2 0;100;0 1.35 False ENSG00000143801 ENSG00000143801 HGNC:9509