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 ABCD1 gene ABCD1 Expert list;Expert Review Green Additional findings_Adult Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Adrenoleukodystrophy, MIM#300100 False 3 100;0;0 2.0 True ENSG00000101986 ENSG00000101986 HGNC:61 ACADM gene ACADM Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450 False 3 100;0;0 2.0 True ENSG00000117054 ENSG00000117054 HGNC:89 ACTA2 gene ACTA2 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 6, MIM# 611788 False 3 100;0;0 2.0 True ENSG00000107796 ENSG00000107796 HGNC:130 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 2.0 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 2.0 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 2.0 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 2.0 True ENSG00000084674 ENSG00000084674 HGNC:603 ASS1 gene ASS1 Expert Review Green;Literature Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Citrullinaemia MIM#215700 False 3 100;0;0 2.0 True ENSG00000130707 ENSG00000130707 HGNC:758 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 2.0 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 2.0 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 2.0 True ENSG00000107779 ENSG00000107779 HGNC:1076 BRCA1 gene BRCA1 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Breast-ovarian cancer, familial, 1, MIM# 604370;Fanconi anaemia, complementation group S, MIM# 617883 False 3 100;0;0 2.0 True ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert Review Green;Melbourne Genomics Health Alliance Additional findings_Adult Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Breast-ovarian cancer, familial, 2, MIM#612555;Fanconi anaemia, complementation group D1, MIM# 605724 False 3 100;0;0 2.0 True ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group J, MIM# 609054 False 3 100;0;0 2.0 True ENSG00000136492 ENSG00000136492 HGNC:20473 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 2.0 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 2.0 True ENSG00000081248 ENSG00000081248 HGNC:1397 CALM1 gene CALM1 Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ventricular tachycardia, catecholaminergic polymorphic, 4 614916;Long QT syndrome 14, MIM# 616247 False 3 100;0;0 2.0 True ENSG00000198668 ENSG00000198668 HGNC:1442 CALM2 gene CALM2 Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990;Long QT syndrome 15 616249 False 3 100;0;0 2.0 True ENSG00000143933 ENSG00000143933 HGNC:1445 CALM3 gene CALM3 Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ventricular tachycardia, catecholaminergic polymorphic 6, MIM# 618782;Long QT syndrome 16, MIM# 618782 False 3 100;0;0 2.0 True ENSG00000160014 ENSG00000160014 HGNC:1449 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 2.0 True ENSG00000118729 ENSG00000118729 HGNC:1513 CBS gene CBS Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200 False 3 100;0;0 2.0 True ENSG00000160200 ENSG00000160200 HGNC:1550 CDC73 gene CDC73 Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperparathyroidism-jaw tumour syndrome, MIM# 145001;Hyperparathyroidism, familial primary, MIM# 145000 False 3 100;0;0 2.0 True ENSG00000134371 ENSG00000134371 HGNC:16783 CDH1 gene CDH1 Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diffuse gastric cancer, MONDO:0957519;CDH1-related diffuse gastric and lobular breast cancer syndrome, MONDO:0100488 False 3 100;0;0 2.0 True ENSG00000039068 ENSG00000039068 HGNC:1748 CDKN1B gene CDKN1B Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia type 4, MEN4, OMIM #610755 False 3 100;0;0 2.0 True ENSG00000111276 ENSG00000111276 HGNC:1785 CDKN2A gene CDKN2A Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Melanoma-pancreatic cancer syndrome} MIM#606719 False 3 100;0;0 2.0 True ENSG00000147889 ENSG00000147889 HGNC:1787 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 2.0 True ENSG00000168542 ENSG00000168542 HGNC:2201 COL4A3 gene COL4A3 Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Alport syndrome 2, autosomal recessive, MIM# 203780 False 3 100;0;0 2.0 True ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 Expert Review Green;Literature Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Alport syndrome 2, autosomal recessive, MIM#203780 False 3 100;0;0 2.0 True ENSG00000081052 ENSG00000081052 HGNC:2206 COL4A5 gene COL4A5 Expert list;Expert Review Green 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) Alport syndrome 1, X-linked, MIM# 301050 False 3 100;0;0 2.0 True ENSG00000188153 ENSG00000188153 HGNC:2207 CP gene CP Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Aceruloplasminaemia, MIM#604290 False 3 100;0;0 2.0 True ENSG00000047457 ENSG00000047457 HGNC:2295 CPS1 gene CPS1 Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Carbamoylphosphate synthetase I deficiency MIM#237300 False 3 100;0;0 2.0 True ENSG00000021826 ENSG00000021826 HGNC:2323 CPT2 gene CPT2 Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal CPT II deficiency, myopathic, stress-induced, MIM# 255110 False 3 100;0;0 2.0 True ENSG00000157184 ENSG00000157184 HGNC:2330 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 2.0 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 2.0 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 2.0 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 2.0 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 2.0 True ENSG00000106991 ENSG00000106991 HGNC:3349 EPCAM gene EPCAM Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lynch syndrome 8, MONDO:0013196 False 3 100;0;0 2.0 True Other ENSG00000119888 ENSG00000119888 HGNC:11529 ERCC4 gene ERCC4 Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group Q, MIM# 615272 False 3 100;0;0 2.0 True ENSG00000175595 ENSG00000175595 HGNC:3436 F5 gene F5 Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Factor V deficiency, MIM# 227400 False 3 100;0;0 2.0 True ENSG00000198734 ENSG00000198734 HGNC:3542 F7 gene F7 Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Factor VII deficiency, MIM# 227500 False 3 100;0;0 2.0 True ENSG00000057593 ENSG00000057593 HGNC:3544 FANCA gene FANCA Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group A, MIM# 227650 False 3 100;0;0 2.0 True ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert Review;Expert Review Green Additional findings_Adult Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Fanconi anaemia, complementation group B, MIM# 300514 False 3 100;0;0 2.0 True ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group C, MIM# 227645 False 3 100;0;0 2.0 True ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group D2, MIM# 227646 False 3 100;0;0 2.0 True ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group E, MIM# 600901 False 3 100;0;0 2.0 True ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group F 603467 False 3 100;0;0 2.0 True ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group G, MIM# 614082 False 3 100;0;0 2.0 True ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group I, MIM# 609053 False 3 100;0;0 2.0 True ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert Review;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group L, MIM# 614083 False 3 100;0;0 2.0 True ENSG00000115392 ENSG00000115392 HGNC:20748 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 2.0 True ENSG00000166147 ENSG00000166147 HGNC:3603 FH gene FH Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888 False 3 100;0;0 2.0 True ENSG00000091483 ENSG00000091483 HGNC:3700 FLCN gene FLCN Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Birt-Hogg-Dube syndrome (MIM#135150) False 3 100;0;0 2.0 True ENSG00000154803 ENSG00000154803 HGNC:27310 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 2.0 True ENSG00000128591 ENSG00000128591 HGNC:3756 G6PD gene G6PD Expert list;Expert Review Green Additional findings_Adult Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Haemolytic anemia, G6PD deficient (favism), MIM# 300908 False 3 100;0;0 2.0 True ENSG00000160211 ENSG00000160211 HGNC:4057 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 2.0 True ENSG00000171298 ENSG00000171298 HGNC:4065 GBA gene GBA Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Gaucher disease, type I MIM#230900 False 3 100;0;0 2.0 True ENSG00000177628 ENSG00000177628 HGNC:4177 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 2.0 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 2.0 True ENSG00000010704 ENSG00000010704 HGNC:4886 HMBS gene HMBS Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porphyria, acute intermittent, MIM#176000 False 3 100;0;0 2.0 True ENSG00000256269 ENSG00000256269 HGNC:4982 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 2.0 True ENSG00000135100 ENSG00000135100 HGNC:11621 HNF1B gene HNF1B Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cysts and diabetes syndrome, MIM# 137920 False 3 100;0;0 2.0 True ENSG00000108753 ENSG00000275410 HGNC:11630 HNF4A gene HNF4A Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MODY, type I, OMIM # 125850 False 3 100;0;0 2.0 True ENSG00000101076 ENSG00000101076 HGNC:5024 ITGA2B gene ITGA2B Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Glanzmann thrombasthaenia 1, MIM# 273800 False 3 100;0;0 2.0 True ENSG00000005961 ENSG00000005961 HGNC:6138 ITGB3 gene ITGB3 Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bleeding disorder, platelet-type, 24, MIM#619271 False 3 100;0;0 2.0 True ENSG00000259207 ENSG00000259207 HGNC:6156 JUP gene JUP Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 12 MIM# 611528;Naxos disease MIM# 601214 False 3 100;0;0 2.0 True ENSG00000173801 ENSG00000173801 HGNC:6207 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 2.0 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 2.0 True ENSG00000053918 ENSG00000053918 HGNC:6294 LAMP2 gene LAMP2 Expert list;Expert Review Green 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) Danon disease, MIM#300257 False 3 100;0;0 2.0 True ENSG00000005893 ENSG00000005893 HGNC:6501 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 2.0 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 2.0 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 2.0 True ENSG00000125952 ENSG00000125952 HGNC:6913 MEFV gene MEFV Expert Review;Expert Review Green Additional findings_Adult Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Familial Mediterranean fever MIM#134610;Familial Mediterranean fever MIM#249100 False 3 100;0;0 2.0 True ENSG00000103313 ENSG00000103313 HGNC:6998 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 2.0 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 2.0 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 2.0 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 2.0 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 2.0 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 2.0 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 2.0 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 2.0 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 2.0 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 2.0 True ENSG00000160808 ENSG00000160808 HGNC:7584 NAGS gene NAGS Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal N-acetylglutamate synthase deficiency - MIM#237310 False 3 100;0;0 2.0 True ENSG00000161653 ENSG00000161653 HGNC:17996 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 2.0 True ENSG00000186575 ENSG00000186575 HGNC:7773 OAT gene OAT Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870 False 3 100;0;0 2.0 True ENSG00000065154 ENSG00000065154 HGNC:8091 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 2.0 True ENSG00000036473 ENSG00000036473 HGNC:8512 PALB2 gene PALB2 Expert list;Expert Review Green Additional findings_Adult Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Breast cancer, susceptibility to} 114480;Fanconi anaemia, complementation group N, MIM# 610832 34012068 False 3 100;0;0 2.0 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 2.0 True ENSG00000169174 ENSG00000169174 HGNC:20001 PHYH gene PHYH Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Refsum disease, MIM# 266500 False 3 100;0;0 2.0 True ENSG00000107537 ENSG00000107537 HGNC:8940 PIK3R1 gene PIK3R1 Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SHORT syndrome, MIM# 269880 False 3 100;0;0 2.0 True ENSG00000145675 ENSG00000145675 HGNC:8979 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 2.0 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 2.0 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 2.0 True ENSG00000106617 ENSG00000106617 HGNC:9386 PRKAR1A gene PRKAR1A Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Carney complex, type 1, MIM# 160980 False 3 100;0;0 2.0 True ENSG00000108946 ENSG00000108946 HGNC:9388 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 2.0 True ENSG00000171862 ENSG00000171862 HGNC:9588 PYGM gene PYGM Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal McArdle disease, MIM# 232600 False 3 100;0;0 2.0 True ENSG00000068976 ENSG00000068976 HGNC:9726 RAD51C gene RAD51C Expert Review;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group O, MIM# 613390 False 3 100;0;0 2.0 True ENSG00000108384 ENSG00000108384 HGNC:9820 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 2.0 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 2.0 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 2.0 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 2.0 True ENSG00000116745 ENSG00000116745 HGNC:10294 RUNX1 gene RUNX1 Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399 False 3 100;0;0 2.0 True ENSG00000159216 ENSG00000159216 HGNC:10471 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 2.0 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 2.0 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 2.0 True ENSG00000183873 ENSG00000183873 HGNC:10593 SDHA gene SDHA Expert list;Expert Review Green Additional findings_Adult Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paragangliomas 5 , MIM#614165 False 3 100;0;0 2.0 True ENSG00000073578 ENSG00000073578 HGNC:10680 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 2.0 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 2.0 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 2.0 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 2.0 True ENSG00000204370 ENSG00000204370 HGNC:10683 SERPINA1 gene SERPINA1 Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal alpha 1-antitrypsin deficiency, MONDO#0013282 False 3 100;0;0 2.0 True ENSG00000197249 ENSG00000197249 HGNC:8941 SLC22A5 gene SLC22A5 Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary, MIM# 212140 False 3 100;0;0 2.0 True ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A13 gene SLC25A13 Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Citrullinaemia, adult-onset type II, MIM# 603471 False 3 100;0;0 2.0 True ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A15 gene SLC25A15 Expert list;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Hyperornithinaemia-hyperammonaemia-homocitrullinaemia syndrome , MIM#238970 False 3 100;0;0 2.0 True ENSG00000102743 ENSG00000102743 HGNC:10985 SLX4 gene SLX4 Expert Review;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group P, MIM# 613951 False 3 100;0;0 2.0 True ENSG00000188827 ENSG00000188827 HGNC:23845 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 2.0 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 2.0 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 2.0 True ENSG00000118046 ENSG00000118046 HGNC:11389 TECRL gene TECRL Expert Review;Expert Review Green Additional findings_Adult Screening BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021 False 3 100;0;0 2.0 True ENSG00000205678 ENSG00000205678 HGNC:27365 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 2.0 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 2.0 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 2.0 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 2.0 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 2.0 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 2.0 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 2.0 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 2.0 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 2.0 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 2.0 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 2.0 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 2.0 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 2.0 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 2.0 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 2.0 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 2.0 True ENSG00000184937 ENSG00000184937 HGNC:12796