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 ACTA2 gene ACTA2 Expert Review Green;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 6, MIM# 611788;Multisystemic smooth muscle dysfunction syndrome, MIM# 613834 30724374 False 3 100;0;0 0.318 True ENSG00000107796 ENSG00000107796 HGNC:130 ANXA11 gene ANXA11 Expert list;Expert Review Green Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy and brain white matter abnormalities, MIM# 619733;Amyotrophic lateral sclerosis 23, MIM# 617839 28469040;29845112;30109997;34048612 False 3 100;0;0 0.318 True ENSG00000122359 ENSG00000122359 HGNC:535 APC gene APC Expert Review Green;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adenomatous polyposis coli, MIM# 175100 False 3 100;0;0 0.318 True ENSG00000134982 ENSG00000134982 HGNC:583 APOB gene APOB Expert Review Green;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercholesterolemia, familial, 2, MIM# 144010 False 3 100;0;0 0.318 True ENSG00000084674 ENSG00000084674 HGNC:603 APOE gene APOE Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alzheimer disease 2, MIM# 104310;Hyperlipoproteinemia, type III (MIM#617347);Sea-blue histiocyte disease (MIM#269600) 27014949;34058468;33679311;33679311 False 3 33;67;0 0.318 True ENSG00000130203 ENSG00000130203 HGNC:613 APP gene APP Expert Review Green;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alzheimer's Disease (MIM#104300) 17121991;1520398;15365148;15668448;1671712;1678058 False 3 100;0;0 0.318 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000142192 ENSG00000142192 HGNC:620 ATP13A2 gene ATP13A2 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Incidentalome BIALLELIC, autosomal or pseudoautosomal Kufor-Rakeb syndrome, MIM# 606693 False 3 100;0;0 0.318 True ENSG00000159363 ENSG00000159363 HGNC:30213 ATP7B gene ATP7B Expert Review Green;Expert Review Red;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome BIALLELIC, autosomal or pseudoautosomal Wilson Disease (MONDO:0010200;MIM #277900) 8298639;9554743;10790207;7626145;16133174 False 3 67;0;33 0.318 False ENSG00000123191 ENSG00000123191 HGNC:870 BAP1 gene BAP1 Expert list;Expert Review Green Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tumor predisposition syndrome, MIM# 614327 21941004;23684012;21874000;21874003 False 3 100;0;0 0.318 True ENSG00000163930 ENSG00000163930 HGNC:950 BGN gene BGN Expert Review Green;Victorian Clinical Genetics Services Incidentalome X-LINKED: hemizygous mutation in males, biallelic mutations in females Meester-Loeys syndrome, MIM# 300989;Spondyloepimetaphyseal dysplasia, X-linked, MIM# 300106 30071989;27632686;17502576 False 3 100;0;0 0.318 True ENSG00000182492 ENSG00000182492 HGNC:1044 BRCA1 gene BRCA1 Expert Review Green;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast-ovarian cancer, familial, 1, MIM# 604370 False 3 100;0;0 0.318 True ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert Review Green;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast-ovarian cancer, familial, 2, MIM#612555 False 3 100;0;0 0.318 True ENSG00000139618 ENSG00000139618 HGNC:1101 CACNA1C gene CACNA1C Expert list;Expert Review Green;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy;congenital heart defects;conduction abnormalities;Timothy syndrome, MIM# 601005;Long QT syndrome 8, MIM# 618447 26253506;28490369;28866666 False 3 100;0;0 0.318 True ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA1S gene CACNA1S Expert Review Green;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Malignant hyperthermia susceptibility 5, MIM# 601887 False 3 100;0;0 0.318 True ENSG00000081248 ENSG00000081248 HGNC:1397 CASQ2 gene CASQ2 Expert Review Green;Victorian Clinical Genetics Services Incidentalome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938 611938 False 3 100;0;0 0.318 True ENSG00000118729 ENSG00000118729 HGNC:1513 CDH1 gene CDH1 Expert Review Green;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 3 0;0;0 0.318 False ENSG00000039068 ENSG00000039068 HGNC:1748 CHCHD2 gene CHCHD2 Expert list;Expert Review Green Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinson disease 22, autosomal dominant MIM#616710 32068847;25662902;31600778;26705026 False 3 100;0;0 0.318 True ENSG00000106153 ENSG00000106153 HGNC:21645 CHEK2 gene CHEK2 Expert Review Green;Other Incidentalome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Li-Fraumeni syndrome 2 (MIM#609265);{Breast cancer, susceptibility to} (MIM#114480);{Colorectal cancer, susceptibility to} (MIM#114500);{Prostate cancer, familial, susceptibility to} (MIM#176807) 36529819 False 3 100;0;0 0.318 True ENSG00000183765 ENSG00000183765 HGNC:16627 CHMP2B gene CHMP2B Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MIM#600795;MONDO:0010936) 20301378;16041373 False 3 100;0;0 0.318 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000083937 ENSG00000083937 HGNC:24537 COL3A1 gene COL3A1 Expert Review Green;Victorian Clinical Genetics Services Incidentalome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ehlers-Danlos syndrome, vascular type, MIM# 130050;Polymicrogyria with or without vascular-type EDS, MIM# 618343 28742248;19455184;25205403;30071989;25758994 False 3 100;0;0 0.318 True ENSG00000168542 ENSG00000168542 HGNC:2201 DDX41 gene DDX41 Expert list;Expert Review Green Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871" False 3 100;0;0 0.318 True ENSG00000183258 ENSG00000183258 HGNC:18674 DICER1 gene DICER1 Expert Review Green;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 3 0;0;0 0.318 False ENSG00000100697 ENSG00000100697 HGNC:17098 DSC2 gene DSC2 Expert Review Green;Literature;Victorian Clinical Genetics Services Incidentalome BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 11, MIM# 610476;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476 33831308;17963498;21062920;23863954;17186466;18957847;17033975;28339476 False 3 50;50;0 0.318 True ENSG00000134755 ENSG00000134755 HGNC:3036 DSG2 gene DSG2 Expert Review Green;Victorian Clinical Genetics Services Incidentalome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 10, MIM# 610193;Cardiomyopathy, dilated, 1BB, MIM# 612877 33949662;18678517;21859740;28764973;35941102;33831308 False 3 100;0;0 0.318 True ENSG00000046604 ENSG00000046604 HGNC:3049 DSP gene DSP Expert Review Green;Victorian Clinical Genetics Services Incidentalome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 8, MIM# 607450;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821;Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676;Epidermolysis bullosa, lethal acantholytic, MIM# 609638 15941723;25765472;23954618;20864495;21397041;24938629;22240500;31073624;30345701;11063735;33831308 False 3 100;0;0 0.318 True ENSG00000096696 ENSG00000096696 HGNC:3052 FBN1 gene FBN1 Expert Review Green;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acromicric dysplasia (102370);Ectopia lentis, familial (129600);Geleophysic dysplasia 2 (614185);Marfan lipodystrophy syndrome (616914);Marfan syndrome (154700);MASS syndrome (604308);Stiff skin syndrome (184900);Weill-Marchesani syndrome 2, dominant (608328) 29357934 False 3 100;0;0 0.318 True ENSG00000166147 ENSG00000166147 HGNC:3603 FTL gene FTL Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration with brain iron accumulation 3, MIM# 606159 11438811;18854324;15099026;15173247 False 3 100;0;0 0.318 True ENSG00000087086 ENSG00000087086 HGNC:3999 FUS gene FUS Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, MIM# 608030 32941707;32770214;19251628;19251627 False 3 100;0;0 0.318 True ENSG00000089280 ENSG00000089280 HGNC:4010 GBA gene GBA Expert Review Green;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinson's disease, MONDO:0005180, GBA-related 35639160 False 3 0;100;0 0.318 True ENSG00000177628 ENSG00000177628 HGNC:4177 GLA gene GLA Expert Review Green;Victorian Clinical Genetics Services Incidentalome X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease 301500;Fabry disease, cardiac variant 301500 8878432;31613176;30681346 False 3 67;0;33 0.318 True Other ENSG00000102393 ENSG00000102393 HGNC:4296 GRN gene GRN ClinGen;Expert Review Green;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923 18184915;23596077;20301545;17436289 False 3 100;0;0 0.318 True ENSG00000030582 ENSG00000030582 HGNC:4601 HCN4 gene HCN4 ClinGen;Expert Review Green;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sick sinus syndrome 2, MIM# 163800;Aortopathy 12750403;15123648;16407510;17646576;25145518;30071989;27173043 False 3 50;50;0 0.318 True ENSG00000138622 ENSG00000138622 HGNC:16882 ITM2B gene ITM2B Expert list;Expert Review Green Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Dementia, familial British MIM#176500;Dementia, familial Danish MIM#117300" 10391242;10781099;20385796;33814452 False 3 100;0;0 0.318 True Other ENSG00000136156 ENSG00000136156 HGNC:6174 KCNE1 gene KCNE1 Expert Review Green;Victorian Clinical Genetics Services Incidentalome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome 2, MIM# 612347;Long QT syndrome 5, MIM# 613695 False 3 50;50;0 0.318 True ENSG00000180509 ENSG00000180509 HGNC:6240 KCNH2 gene KCNH2 Expert Review Green;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 2, MIM# 613688;Short QT syndrome , MIM#1 609620 31983240 False 3 100;0;0 0.318 True ENSG00000055118 ENSG00000055118 HGNC:6251 KCNQ1 gene KCNQ1 Expert Review Green;Victorian Clinical Genetics Services Incidentalome BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Long QT syndrome 1, MIM# 192500;Short QT syndrome 2, MIM# 609621;Jervell and Lange-Nielsen syndrome, MIM# 220400;Atrial fibrillation, familial, 3, MIM# 607554 False 3 100;0;0 0.318 True ENSG00000053918 ENSG00000053918 HGNC:6294 LDLR gene LDLR Expert Review Green;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercholesterolemia, familial, 1, MIM# 143890 10978268 False 3 100;0;0 0.318 True ENSG00000130164 ENSG00000130164 HGNC:6547 LMNA gene LMNA Expert list;Expert Review Green;Victorian Clinical Genetics Services Incidentalome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1A, MIM# 115200;Arrhythmogenic right ventricular cardiomyopathy;Lipodystrophy, familial partial, type 2, MIM# 151660;Emery-Dreifuss muscular dystrophy 2, MIM#181350;Mandibuloacral dysplasia 248370;Restrictive dermopathy, lethal 275210;Hutchinson-Gilford progeria 176670;Muscular dystrophy, congenital 613205 22199124;25837155;26620845 False 3 100;0;0 0.318 True ENSG00000160789 ENSG00000160789 HGNC:6636 LRRK2 gene LRRK2 Expert Review Green;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinson Disease type 8 (MONDO:0005180, MIM#607060) 20301387;17200152;15541308;16172858;17060595;31038182;27521182;28487191 False 3 100;0;0 0.318 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000188906 ENSG00000188906 HGNC:18618 LZTR1 gene LZTR1 Expert Review Green;Victorian Clinical Genetics Services Incidentalome Unknown False 3 0;0;0 0.318 False ENSG00000099949 ENSG00000099949 HGNC:6742 MAPT gene MAPT Expert Review Green;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Supranuclear palsy, progressive (MIM# 601104) AD;Supranuclear palsy, progressive atypical (MIM# 260540) AR 20838030;11220749 False 3 100;0;0 0.318 True ENSG00000186868 ENSG00000186868 HGNC:6893 MBD4 gene MBD4 Expert Review Green;Literature Incidentalome BIALLELIC, autosomal or pseudoautosomal Hereditary neoplastic syndrome, MBD4-associated MONDO:0015356 35460607 False 3 50;50;0 0.318 True ENSG00000129071 ENSG00000129071 HGNC:6919 MEN1 gene MEN1 Expert Review Green;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia 1, MIM# 131100 False 3 100;0;0 0.318 True ENSG00000133895 ENSG00000133895 HGNC:7010 MLH1 gene MLH1 Expert Review Green;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal mismatch repair cancer syndrome 1 MONDO:0010159 False 3 100;0;0 0.318 True ENSG00000076242 ENSG00000076242 HGNC:7127 MLH3 gene MLH3 Expert Review Green;Victorian Clinical Genetics Services Incidentalome Unknown False 3 0;0;0 0.318 False ENSG00000119684 ENSG00000119684 HGNC:7128 MSH2 gene MSH2 Expert Review Green;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Expert Review Green;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000116062 ENSG00000116062 HGNC:7329 MUTYH gene MUTYH Expert Review Green;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000132781 ENSG00000132781 HGNC:7527 MYBPC3 gene MYBPC3 Expert Review Green;Victorian Clinical Genetics Services Incidentalome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1MM, MIM#615396;Cardiomyopathy, hypertrophic, 4, MIM# 115197 False 3 75;25;0 0.318 True ENSG00000134571 ENSG00000134571 HGNC:7551 MYH11 gene MYH11 Expert Review Green;Victorian Clinical Genetics Services Incidentalome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Visceral myopathy 2, MIM# 619350;Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive, MIM#619351;Aortic aneurysm, familial thoracic 4, MIM# 132900 30071989;16444274;17666408;27081537;31944481 False 3 100;0;0 0.318 True ENSG00000133392 ENSG00000133392 HGNC:7569 MYH7 gene MYH7 Expert Review Green;Victorian Clinical Genetics Services Incidentalome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1S, MIM# 613426;MONDO:0013262;Cardiomyopathy, hypertrophic, 1, MIM# 192600;Laing distal myopathy, MIM# 160500;Myopathy, myosin storage, autosomal dominant, MIM# 608358;Myopathy, myosin storage, autosomal recessive, MIM# 255160 21483645;30874888;21846512;30384889;25935763;24558114;27000522;31179125;24119082;27965028;33947203;30681346;15322983 False 3 100;0;0 0.318 True ENSG00000092054 ENSG00000092054 HGNC:7577 MYL2 gene MYL2 Expert Review Green;Victorian Clinical Genetics Services Incidentalome BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM# 619424;Cardiomyopathy, hypertrophic, 10, MIM# 608758 23365102;32453731;30681346 False 3 100;0;0 0.318 True ENSG00000111245 ENSG00000111245 HGNC:7583 MYL3 gene MYL3 Expert Review Green;Victorian Clinical Genetics Services Incidentalome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, hypertrophic, 8, MIM# 608751 30681346 False 3 100;0;0 0.318 True ENSG00000160808 ENSG00000160808 HGNC:7584 MYLK gene MYLK Expert Review Green;Victorian Clinical Genetics Services Incidentalome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aortic aneurysm, familial thoracic 7, MIM#613780;Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#249210 28602422;30071989;27586135;21055718;25907466 False 3 100;0;0 0.318 True ENSG00000065534 ENSG00000065534 HGNC:7590 NF2 gene NF2 Expert Review Green;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis, type 2, MIM# 101000 33075808 False 3 100;0;0 0.318 True ENSG00000186575 ENSG00000186575 HGNC:7773 NOTCH3 gene NOTCH3 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000074181 ENSG00000074181 HGNC:7883 NPC1 gene NPC1 Expert Review Green;Victorian Clinical Genetics Services Incidentalome Unknown False 3 0;100;0 0.318 False ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert Review Green;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000119655 ENSG00000119655 HGNC:14537 NTHL1 gene NTHL1 Expert Review Green;Literature Incidentalome BIALLELIC, autosomal or pseudoautosomal NTHL1-associated cancer syndrome 33454955 False 3 100;0;0 0.318 True ENSG00000065057 ENSG00000065057 HGNC:8028 OPTN gene OPTN Expert Review Green;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000123240 ENSG00000123240 HGNC:17142 PALB2 gene PALB2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000083093 ENSG00000083093 HGNC:26144 PANK2 gene PANK2 Expert Review Green;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000125779 ENSG00000125779 HGNC:15894 PARK7 gene PARK7 Expert Review Green;Victorian Clinical Genetics Services Incidentalome Unknown False 3 50;50;0 0.318 False ENSG00000116288 ENSG00000116288 HGNC:16369 PCSK9 gene PCSK9 Expert Review Green;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Familial Hypercholesterolemia 3 (MONDO:0011369;MIM# 603776);Low-density lipoprotein cholesterol level quantitative trait locus-1 (LDLCQ1;MIM# 603776) 24404629;18354137;12730697;15654334;16909389 False 3 100;0;0 0.318 True ENSG00000169174 ENSG00000169174 HGNC:20001 PICALM gene PICALM Expert Review Green;Victorian Clinical Genetics Services Incidentalome Unknown False 3 0;0;0 0.318 False ENSG00000073921 ENSG00000073921 HGNC:15514 PINK1 gene PINK1 Expert Review Green;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000158828 ENSG00000158828 HGNC:14581 PKP2 gene PKP2 Expert Review Green;Literature;Victorian Clinical Genetics Services Incidentalome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 9, MIM# 609040;Dilated cardiomyopathy, MONDO:0005021, PKP2-related 30562116;35059364;38050058;15489853;16567567 False 3 50;50;0 0.318 True ENSG00000057294 ENSG00000057294 HGNC:9024 PLA2G6 gene PLA2G6 Expert Review Green;Victorian Clinical Genetics Services Incidentalome Unknown False 3 0;100;0 0.318 False ENSG00000184381 ENSG00000184381 HGNC:9039 PMS2 gene PMS2 Expert Review Green;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000122512 ENSG00000122512 HGNC:9122 POT1 gene POT1 Expert list;Expert Review Green Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary neoplastic syndrome, MONDO:0015356, POT1-related (PMID:27528712;PMID: 29693246;PMID: 34769003;PMID: 36467798;PMID: 33216348;PMID: 24686849;PMID:24686846;PMID: 26403419;PMID: 32492864) False 3 100;0;0 0.318 True ENSG00000128513 ENSG00000128513 HGNC:17284 PRKAG2 gene PRKAG2 Expert Review Green;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic 6, MIM# 600858;Glycogen storage disease of heart, lethal congenital, MIM# 261740 15877279;17667862;32646569;30681346 False 3 50;0;50 0.318 True ENSG00000106617 ENSG00000106617 HGNC:9386 PRKN gene PRKN Expert Review Green;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000185345 ENSG00000185345 HGNC:8607 PRNP gene PRNP Expert Review Green;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000171867 ENSG00000171867 HGNC:9449 PSEN1 gene PSEN1 Expert Review Green;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000080815 ENSG00000080815 HGNC:9508 PSEN2 gene PSEN2 Expert Review Green;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000143801 ENSG00000143801 HGNC:9509 PTEN gene PTEN Expert Review Green;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000171862 ENSG00000171862 HGNC:9588 RAD51D gene RAD51D Expert Review Green;Literature Incidentalome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Breast-ovarian cancer, familial, susceptibility to, 4} 614291 PMID: 28646019;31937788;26057125 False 3 100;0;0 0.318 True ENSG00000185379 ENSG00000185379 HGNC:9823 RB1 gene RB1 Expert Review Green;Victorian Clinical Genetics Services Incidentalome Unknown False 3 0;0;0 0.318 False ENSG00000139687 ENSG00000139687 HGNC:9884 RET gene RET Expert Review Green;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000165731 ENSG00000165731 HGNC:9967 RYR2 gene RYR2 Expert Review Green;Literature;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772;Arrhythmogenic right ventricular dysplasia 2, MIM# 600996;Hypertrophic cardiomyopathy 11159936;25041964;29543670;11208676;12093772 False 3 67;33;0 0.318 True ENSG00000198626 ENSG00000198626 HGNC:10484 SCN1B gene SCN1B Expert Review Green;Victorian Clinical Genetics Services Incidentalome Unknown False 3 0;100;0 0.318 False ENSG00000105711 ENSG00000105711 HGNC:10586 SCN5A gene SCN5A Expert Review Green;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 3 (MIM#603830);Sick sinus syndrome 1, MIM# 608567;Ventricular fibrillation, familial, 1, MIM# 603829;Brugada syndrome 1, MIM# 601144;Heart block, progressive, type IA, MIM# 113900;Cardiomyopathy, dilated, 1E, MIM# 601154 15671429;15671429;19808398;21596231;20458009;22675453;22766342;22999724;29871609;29506689;31514951;31930659;31520233;17512504;21824921;30218094 False 3 100;0;0 0.318 True ENSG00000183873 ENSG00000183873 HGNC:10593 SDHAF2 gene SDHAF2 Expert Review Green;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000167985 ENSG00000167985 HGNC:26034 SDHB gene SDHB Expert Review Green;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000117118 ENSG00000117118 HGNC:10681 SDHC gene SDHC Expert Review Green;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000143252 ENSG00000143252 HGNC:10682 SDHD gene SDHD Expert Review Green;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000204370 ENSG00000204370 HGNC:10683 SETX gene SETX Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Incidentalome Unknown False 3 50;0;50 0.318 False ENSG00000107290 ENSG00000107290 HGNC:445 SMAD3 gene SMAD3 Expert Review Green;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 3, MIM# 613795 21217753;30661052;30071989 False 3 100;0;0 0.318 True ENSG00000166949 ENSG00000166949 HGNC:6769 SNCA gene SNCA Expert Review Green;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Dementia, Lewy body (MIM#127750);Parkinson disease 1 (MIM#168601);Parkinson disease 4 (MIM#605543) 32849182;26858591;32740728 False 3 100;0;0 0.318 True ENSG00000145335 ENSG00000145335 HGNC:11138 SNCAIP gene SNCAIP Expert Review Green;Victorian Clinical Genetics Services Incidentalome Unknown False 3 0;0;100 0.318 False ENSG00000064692 ENSG00000064692 HGNC:11139 SOD1 gene SOD1 Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Incidentalome Unknown False 3 50;0;50 0.318 False ENSG00000142168 ENSG00000142168 HGNC:11179 SORL1 gene SORL1 Expert Review Green;Victorian Clinical Genetics Services Incidentalome Unknown False 3 0;0;100 0.318 False ENSG00000137642 ENSG00000137642 HGNC:11185 SPART gene SPART Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Incidentalome Unknown False 3 0;0;100 0.318 False ENSG00000133104 ENSG00000133104 HGNC:18514 SPG11 gene SPG11 Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000104133 ENSG00000104133 HGNC:11226 STK11 gene STK11 Expert Review Green;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000118046 ENSG00000118046 HGNC:11389 TARDBP gene TARDBP Expert Review Green;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000120948 ENSG00000120948 HGNC:11571 TBK1 gene TBK1 Expert Review;Expert Review Green Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (MIM#616439), AD 25803835;26581300;31000212;25943890 False 3 100;0;0 0.318 True ENSG00000183735 ENSG00000183735 HGNC:11584 TGFBR1 gene TGFBR1 Expert Review Green;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 1, MIM# 609192 30071989;27879313 False 3 100;0;0 0.318 True ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Expert Review Green;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 2 , MIM#610168 30071989;27879313 False 3 100;0;0 0.318 True ENSG00000163513 ENSG00000163513 HGNC:11773 TH gene TH Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Incidentalome Unknown False 3 0;0;100 0.318 False ENSG00000180176 ENSG00000180176 HGNC:11782 THSD4 gene THSD4 Expert Review Green;Literature Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 12, MIM# 619825 32855533 False 3 100;0;0 0.318 True ENSG00000187720 ENSG00000187720 HGNC:25835 TMEM43 gene TMEM43 Expert Review Green;Literature;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 5, MIM# 604400;Auditory neuropathy, autosomal dominant 3, MIM# 619832;Emery-Dreifuss muscular dystrophy 7 (MIM#614302) 18313022;21214875;23812740;22725725;24598986;29980933;34050020;21391237;30311943;33831308 False 3 50;50;0 0.318 True ENSG00000170876 ENSG00000170876 HGNC:28472 TNNI3 gene TNNI3 Expert Review Green;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1FF, MIM#613286;Cardiomyopathy, hypertrophic, 7, MIM# 613690;Cardiomyopathy, familial restrictive, MIM#1115210 22464770;31568572;19590045;20215591;21846512;2226790;30681346;15607392 False 3 100;0;0 0.318 True ENSG00000129991 ENSG00000129991 HGNC:11947 TNNT2 gene TNNT2 Expert Review Green;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1D, MIM# 601494;Cardiomyopathy, hypertrophic, 2, MIM# 115195;Cardiomyopathy, familial restrictive, 3, MIM# 612422;Left ventricular noncompaction 6, MIM# 601494 33947203;11106718;20978592;20031601;15542288;17556660;30681346 False 3 100;0;0 0.318 True ENSG00000118194 ENSG00000118194 HGNC:11949 TP53 gene TP53 Expert Review Green;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000141510 ENSG00000141510 HGNC:11998 TPM1 gene TPM1 Expert Review Green;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1Y, MIM# 611878;Cardiomyopathy, hypertrophic, 3, MIM# 115196 11273725;23147248;20117437;15249230;20215591;21483645;31983221;28600229 False 3 100;0;0 0.318 True ENSG00000140416 ENSG00000140416 HGNC:12010 TRIM28 gene TRIM28 Expert Review Green;Literature Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilm's tumour 30694527 False 3 100;0;0 0.318 True ENSG00000130726 ENSG00000130726 HGNC:16384 TSC1 gene TSC1 Expert Review Green;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert Review Green;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000103197 ENSG00000103197 HGNC:12363 TTN gene TTN Expert Review Green;Victorian Clinical Genetics Services Incidentalome BOTH monoallelic and biallelic, autosomal or pseudoautosomal 25589632;28045975;22335739;33947203 False 3 67;33;0 0.318 True ENSG00000155657 ENSG00000155657 HGNC:12403 UBQLN2 gene UBQLN2 Expert Review Green;Victorian Clinical Genetics Services Incidentalome Unknown False 3 0;100;0 0.318 False ENSG00000188021 ENSG00000188021 HGNC:12509 UCHL1 gene UCHL1 Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Incidentalome BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 79A, autosomal dominant, MIM# 620221;Spastic paraplegia 79, autosomal recessive, MIM# 615491;MONDO:0014209;Neurodegenerative disease, MONDO:0005559, UCHL1-related 23359680;3340629;28007905;32656641;29735986;28007905;35986737 False 3 50;0;50 0.318 True ENSG00000154277 ENSG00000154277 HGNC:12513 VAPB gene VAPB Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Incidentalome Unknown False 3 0;50;50 0.318 False ENSG00000124164 ENSG00000124164 HGNC:12649 VCP gene VCP Expert Review Green;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000165280 ENSG00000165280 HGNC:12666 VHL gene VHL Expert Review Green;Melbourne Genomics Health Alliance;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000134086 ENSG00000134086 HGNC:12687 VPS13A gene VPS13A Expert Review Green;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000197969 ENSG00000197969 HGNC:1908 WT1 gene WT1 Expert Review Green;Victorian Clinical Genetics Services Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Denys-Drash syndrome, MIM# 194080;Frasier syndrome, MIM#136680;Wilms tumor, type 1, MIM#194070;Nephrotic syndrome, type 4, MIM#256370 False 3 100;0;0 0.318 True ENSG00000184937 ENSG00000184937 HGNC:12796 XK gene XK Expert Review Green;Melbourne Genomics Health Alliance Complex Neurology Flagship;Victorian Clinical Genetics Services Incidentalome Unknown False 3 100;0;0 0.318 False ENSG00000047597 ENSG00000047597 HGNC:12811 FTDALS str C9orf72 Expert Review Green;Expert list Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550 25577942;21944779;21944778 False 3 100;0;0 0.318 True ENSG00000147894 ENSG00000147894 HGNC:28337 9 27573427 27573544 27573529 27573546 GGGGCC 25 60 HD str HTT Expert Review Green;Expert list Incidentalome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Huntington disease MIM#143100 8458085;20301482;29325606 False 3 100;0;0 0.318 True ENSG00000197386 ENSG00000197386 HGNC:4851 4 3076604 3076666 3074877 3074939 CAG 26 40