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 ACTC1 gene ACTC1 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1R, MIM# 613424;Cardiomyopathy, hypertrophic, 11, MIM# 612098;Left ventricular noncompaction 4, MIM# 613424 False 3 100;0;0 0.169 True ENSG00000159251 ENSG00000159251 HGNC:143 ACVRL1 gene ACVRL1 Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376" 34012068 False 3 100;0;0 0.169 True ENSG00000139567 ENSG00000139567 HGNC:175 APC gene APC Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adenomatous polyposis coli, MIM# 175100 False 3 100;0;0 0.169 True ENSG00000134982 ENSG00000134982 HGNC:583 APOB gene APOB Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercholesterolemia, familial, 2, MIM# 144010 False 3 100;0;0 0.169 True ENSG00000084674 ENSG00000084674 HGNC:603 ATP7B gene ATP7B Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Wilson disease, MIM# 277900 False 3 100;0;0 0.169 True ENSG00000123191 ENSG00000123191 HGNC:870 BAG3 gene BAG3 Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1HH, MIM# 613881;Myopathy, myofibrillar, 6, MIM# 612954 35802134 False 3 0;0;0 0.169 True ENSG00000151929 ENSG00000151929 HGNC:939 BMPR1A gene BMPR1A Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polyposis, juvenile intestinal, MIM# 174900 False 3 100;0;0 0.169 True ENSG00000107779 ENSG00000107779 HGNC:1076 BRCA1 gene BRCA1 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast-ovarian cancer, familial, 1, MIM# 604370 False 3 100;0;0 0.169 True ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast-ovarian cancer, familial, 2, MIM#612555 False 3 100;0;0 0.169 True ENSG00000139618 ENSG00000139618 HGNC:1101 BTD gene BTD Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal "Biotinidase deficiency, MIM# 253260" 34012068 False 3 100;0;0 0.169 True ENSG00000169814 ENSG00000169814 HGNC:1122 CACNA1S gene CACNA1S Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Malignant hyperthermia susceptibility 5, MIM# 601887 False 3 100;0;0 0.169 True ENSG00000081248 ENSG00000081248 HGNC:1397 CASQ2 gene CASQ2 Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal "Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938" 34012068 False 3 100;0;0 0.169 True ENSG00000118729 ENSG00000118729 HGNC:1513 COL3A1 gene COL3A1 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome, vascular type, MIM# 130050 False 3 100;0;0 0.169 True ENSG00000168542 ENSG00000168542 HGNC:2201 DES gene DES Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1I, MIM# 604765;Myopathy, myofibrillar, 1 , MIM#601419 35802134 False 3 0;0;0 0.169 True ENSG00000175084 ENSG00000175084 HGNC:2770 DSC2 gene DSC2 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 11, MIM# 610476 False 3 100;0;0 0.169 True ENSG00000134755 ENSG00000134755 HGNC:3036 DSG2 gene DSG2 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 10, MIM# 610193 False 3 100;0;0 0.169 True ENSG00000046604 ENSG00000046604 HGNC:3049 DSP gene DSP Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 8, MIM# 607450;Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821 False 3 100;0;0 0.169 True ENSG00000096696 ENSG00000096696 HGNC:3052 ENG gene ENG Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300" 34012068 False 3 100;0;0 0.169 True ENSG00000106991 ENSG00000106991 HGNC:3349 FBN1 gene FBN1 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marfan syndrome, MIM# 154700 False 3 100;0;0 0.169 True ENSG00000166147 ENSG00000166147 HGNC:3603 FLNC gene FLNC Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, familial hypertrophic, 26, MIM# 617047" 34012068 False 3 100;0;0 0.169 True ENSG00000128591 ENSG00000128591 HGNC:3756 GAA gene GAA Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal "Glycogen storage disease II 232300;Pompe disease" 34012068 False 3 100;0;0 0.169 True ENSG00000171298 ENSG00000171298 HGNC:4065 GLA gene GLA Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease, MIM# 301500 False 3 100;0;0 0.169 True ENSG00000102393 ENSG00000102393 HGNC:4296 HFE gene HFE Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Haemochromatosis, MIM# 235200 False 3 100;0;0 0.169 True ENSG00000010704 ENSG00000010704 HGNC:4886 HNF1A gene HNF1A Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "MODY, type III , MIM#600496" 34012068 False 3 100;0;0 0.169 True ENSG00000135100 ENSG00000135100 HGNC:11621 KCNH2 gene KCNH2 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 2, MIM# 613688 False 3 100;0;0 0.169 True ENSG00000055118 ENSG00000055118 HGNC:6251 KCNQ1 gene KCNQ1 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 1, MIM# 192500 False 3 100;0;0 0.169 True ENSG00000053918 ENSG00000053918 HGNC:6294 LDLR gene LDLR Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercholesterolemia, familial, 1, MIM# 143890 False 3 100;0;0 0.169 True ENSG00000130164 ENSG00000130164 HGNC:6547 LMNA gene LMNA Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1A, MIM# 115200 False 3 100;0;0 0.169 True ENSG00000160789 ENSG00000160789 HGNC:6636 MAX gene MAX Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Pheochromocytoma, susceptibility to} 171300" 34012068 False 3 100;0;0 0.169 True ENSG00000125952 ENSG00000125952 HGNC:6913 MEN1 gene MEN1 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia 1, MIM# 131100 False 3 100;0;0 0.169 True ENSG00000133895 ENSG00000133895 HGNC:7010 MLH1 gene MLH1 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colorectal cancer, hereditary nonpolyposis, type 2, MIM# 609310 False 3 100;0;0 0.169 True ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colorectal cancer, hereditary nonpolyposis, type 1, MIM# 120435 False 3 100;0;0 0.169 True ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colorectal cancer, hereditary nonpolyposis, type 5, MIM# 614350 False 3 100;0;0 0.169 True ENSG00000116062 ENSG00000116062 HGNC:7329 MUTYH gene MUTYH Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Adenomas, multiple colorectal, MIM# 608456 False 3 100;0;0 0.169 True ENSG00000132781 ENSG00000132781 HGNC:7527 MYBPC3 gene MYBPC3 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1MM, MIM# 615396;Cardiomyopathy, hypertrophic, 4, MIM# 115197;Left ventricular noncompaction 10, MIM# 615396 False 3 100;0;0 0.169 True ENSG00000134571 ENSG00000134571 HGNC:7551 MYH11 gene MYH11 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 4, MIM# 132900 False 3 100;0;0 0.169 True ENSG00000133392 ENSG00000133392 HGNC:7569 MYH7 gene MYH7 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1S, MIM# 613426;Cardiomyopathy, hypertrophic, 1, MIM# 192600 False 3 100;0;0 0.169 True ENSG00000092054 ENSG00000092054 HGNC:7577 MYL2 gene MYL2 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 10, MIM# 608758 False 3 100;0;0 0.169 True ENSG00000111245 ENSG00000111245 HGNC:7583 MYL3 gene MYL3 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, hypertrophic, 8, MIM# 608751 False 3 100;0;0 0.169 True ENSG00000160808 ENSG00000160808 HGNC:7584 NF2 gene NF2 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis, type 2, MIM# 101000 False 3 100;0;0 0.169 True ENSG00000186575 ENSG00000186575 HGNC:7773 OTC gene OTC Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Ornithine transcarbamylase deficiency, MIM# 311250 False 3 100;0;0 0.169 True ENSG00000036473 ENSG00000036473 HGNC:8512 PALB2 gene PALB2 Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Breast cancer, susceptibility to} 114480" 34012068 False 3 100;0;0 0.169 True ENSG00000083093 ENSG00000083093 HGNC:26144 PCSK9 gene PCSK9 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercholesterolemia, familial, 3, MIM# 603776 False 3 100;0;0 0.169 True ENSG00000169174 ENSG00000169174 HGNC:20001 PKP2 gene PKP2 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 9, MIM# 609040 False 3 100;0;0 0.169 True ENSG00000057294 ENSG00000057294 HGNC:9024 PMS2 gene PMS2 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colorectal cancer, hereditary nonpolyposis, type 4, MIM# 614337 False 3 100;0;0 0.169 True ENSG00000122512 ENSG00000122512 HGNC:9122 PRKAG2 gene PRKAG2 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic 6, MIM# 600858 False 3 100;0;0 0.169 True ENSG00000106617 ENSG00000106617 HGNC:9386 PTEN gene PTEN Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cowden syndrome 1, MIM# 158350;PTEN hamartoma tumour syndrome (MONDO#0017623) False 3 100;0;0 0.169 True ENSG00000171862 ENSG00000171862 HGNC:9588 RB1 gene RB1 Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinoblastoma MONDO:0008380 False 3 0;0;0 0.169 True ENSG00000139687 ENSG00000139687 HGNC:9884 RBM20 gene RBM20 Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1DD MIM#613172 AD 35802134 False 3 0;0;0 0.169 True ENSG00000203867 ENSG00000203867 HGNC:27424 RET gene RET Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia IIA, MIM# 171400;Multiple endocrine neoplasia IIB, MIM# 162300 False 3 100;0;0 0.169 True ENSG00000165731 ENSG00000165731 HGNC:9967 RPE65 gene RPE65 Expert list;Expert Review Green Additional findings_Adult Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal RPE-related retinopathy 34012068 False 3 100;0;0 0.169 True ENSG00000116745 ENSG00000116745 HGNC:10294 RYR1 gene RYR1 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Malignant hyperthermia susceptibility 1}, MIM#145600 False 3 100;0;0 0.169 True ENSG00000196218 ENSG00000196218 HGNC:10483 RYR2 gene RYR2 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 2 , MIM#600996;Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772 False 3 100;0;0 0.169 True ENSG00000198626 ENSG00000198626 HGNC:10484 SCN5A gene SCN5A Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation, familial, 10, MIM# 614022;Brugada syndrome 1, MIM# 601144 AD 3 Cardiomyopathy, dilated, 1E 601154 AD 3 Heart block, nonprogressive, MIM# 113900;Heart block, progressive, type IA, MIM# 113900;Long QT syndrome 3, MIM# 603830 False 3 100;0;0 0.169 True ENSG00000183873 ENSG00000183873 HGNC:10593 SDHAF2 gene SDHAF2 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paragangliomas 2, MIM# 601650 False 3 100;0;0 0.169 True ENSG00000167985 ENSG00000167985 HGNC:26034 SDHB gene SDHB Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paragangliomas 4, MIM# 115310 False 3 100;0;0 0.169 True ENSG00000117118 ENSG00000117118 HGNC:10681 SDHC gene SDHC Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paragangliomas 3, MIM# 605373 False 3 100;0;0 0.169 True ENSG00000143252 ENSG00000143252 HGNC:10682 SDHD gene SDHD Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paragangliomas 1, with or without deafness, MIM# 168000;Pheochromocytoma, MIM# 171300 False 3 100;0;0 0.169 True ENSG00000204370 ENSG00000204370 HGNC:10683 SMAD3 gene SMAD3 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 3, MIM# 613795 False 3 100;0;0 0.169 True ENSG00000166949 ENSG00000166949 HGNC:6769 SMAD4 gene SMAD4 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted vJuvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050 False 3 100;0;0 0.169 True ENSG00000141646 ENSG00000141646 HGNC:6770 STK11 gene STK11 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Peutz-Jeghers syndrome, MIM# 175200 False 3 100;0;0 0.169 True ENSG00000118046 ENSG00000118046 HGNC:11389 TGFBR1 gene TGFBR1 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 1, MIM# 609192 False 3 100;0;0 0.169 True ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 2, MIM# 610168 False 3 100;0;0 0.169 True ENSG00000163513 ENSG00000163513 HGNC:11773 TMEM127 gene TMEM127 Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Pheochromocytoma, susceptibility to} 171300" 34012068 False 3 100;0;0 0.169 True ENSG00000135956 ENSG00000135956 HGNC:26038 TMEM43 gene TMEM43 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 5, MIM# 604400 False 3 100;0;0 0.169 True ENSG00000170876 ENSG00000170876 HGNC:28472 TNNC1 gene TNNC1 Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1Z, MIM# 611879 35802134 False 3 0;0;0 0.169 True ENSG00000114854 ENSG00000114854 HGNC:11943 TNNI3 gene TNNI3 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1FF, MIM# 613286;Cardiomyopathy, familial restrictive, MIM#1 115210;Cardiomyopathy, hypertrophic, 7 , MIM#613690 False 3 100;0;0 0.169 True ENSG00000129991 ENSG00000129991 HGNC:11947 TNNT2 gene TNNT2 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1D, MIM# 601494;Cardiomyopathy, familial restrictive, 3, MIM# 612422;Cardiomyopathy, hypertrophic, 2, MIM# 115195;Left ventricular noncompaction 6, MIM# 601494 False 3 100;0;0 0.169 True ENSG00000118194 ENSG00000118194 HGNC:11949 TP53 gene TP53 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Li-Fraumeni syndrome, MIM# 151623 False 3 100;0;0 0.169 True ENSG00000141510 ENSG00000141510 HGNC:11998 TPM1 gene TPM1 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1Y, MIM# 611878;Cardiomyopathy, hypertrophic, 3, MIM# 115196;Left ventricular noncompaction 9, MIM# 611878 False 3 100;0;0 0.169 True ENSG00000140416 ENSG00000140416 HGNC:12010 TRDN gene TRDN Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal "Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441" 34012068 False 3 100;0;0 0.169 True ENSG00000186439 ENSG00000186439 HGNC:12261 TSC1 gene TSC1 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis-1, MIM# 191100 False 3 100;0;0 0.169 True ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis-2, MIM# 613254 False 3 100;0;0 0.169 True ENSG00000103197 ENSG00000103197 HGNC:12363 TTN gene TTN Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, dilated, 1G, MIM# 604145" 34012068 False 3 100;0;0 0.169 True ENSG00000155657 ENSG00000155657 HGNC:12403 TTR gene TTR Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary transthyretin-related amyloidosis MIM#105210 35802134 False 3 0;0;0 0.169 True ENSG00000118271 ENSG00000118271 HGNC:12405 VHL gene VHL Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted von Hippel-Lindau syndrome , MIM#193300 False 3 100;0;0 0.169 True ENSG00000134086 ENSG00000134086 HGNC:12687 WT1 gene WT1 Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilms' tumor MIM#194070 35802134 False 3 0;0;0 0.169 True ENSG00000184937 ENSG00000184937 HGNC:12796