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 ABCC6 gene ABCC6 Expert Review Red;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;100 4.5 False ENSG00000091262 ENSG00000091262 HGNC:57 ACVR1 gene ACVR1 Expert Review Red;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 4.5 False ENSG00000115170 ENSG00000115170 HGNC:171 ADAMTS2 gene ADAMTS2 Expert Review Red;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 4.5 False ENSG00000087116 ENSG00000087116 HGNC:218 ALDH18A1 gene ALDH18A1 Expert Review Red;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;100 4.5 False ENSG00000059573 ENSG00000059573 HGNC:9722 ATP6V0A2 gene ATP6V0A2 Expert Review Red;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 4.5 False ENSG00000185344 ENSG00000185344 HGNC:18481 ATP7A gene ATP7A Expert Review Red;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females False 1 0;0;100 4.5 False ENSG00000165240 ENSG00000165240 HGNC:869 B4GALT7 gene B4GALT7 Expert Review Red;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 4.5 False ENSG00000027847 ENSG00000027847 HGNC:930 CHST14 gene CHST14 Expert Review Red;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 4.5 False ENSG00000169105 ENSG00000169105 HGNC:24464 COL11A1 gene COL11A1 Expert Review Red;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;100 4.5 False ENSG00000060718 ENSG00000060718 HGNC:2186 COL11A2 gene COL11A2 Expert Review Red;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 20618517 False 1 0;0;100 4.5 False ENSG00000204248 ENSG00000204248 HGNC:2187 COL1A2 gene COL1A2 Expert Review Red;London South GLH;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ehlers-Danlos syndrome, cardiac valvular form;Ehlers-Danlos syndrome, type VIIB False 1 33;33;33 4.5 True ENSG00000164692 ENSG00000164692 HGNC:2198 COL2A1 gene COL2A1 Expert Review Red;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 4.5 False ENSG00000139219 ENSG00000139219 HGNC:2200 COL4A1 gene COL4A1 Expert Review Red;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773;Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps False 1 0;0;100 4.5 False ENSG00000187498 ENSG00000187498 HGNC:2202 COL9A1 gene COL9A1 Expert Review Red;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 4.5 False ENSG00000112280 ENSG00000112280 HGNC:2217 COL9A2 gene COL9A2 Expert Review Red;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;100 4.5 False ENSG00000049089 ENSG00000049089 HGNC:2218 COL9A3 gene COL9A3 Expert Review Red;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 4.5 False ENSG00000092758 ENSG00000092758 HGNC:2219 EMILIN1 gene EMILIN1 Expert Review Red;London South GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology False 1 0;25;75 4.5 False ENSG00000138080 ENSG00000138080 HGNC:19880 FLCN gene FLCN Expert Review Red;London South GLH;NHS GMS;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Birt-Hogg-Dube syndrome,135150;Pneumothorax, primary spontaneous, 173600 False 1 0;50;50 4.5 False ENSG00000154803 ENSG00000154803 HGNC:27310 HEY2 gene HEY2 Expert Review Red;Literature Thoracic aortic aneurysm or dissection (GMS) Cardiology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal congenital heart defects, multiple type, MONDO:0000119;thoracic aortic aneurysm, MONDO:0005396 32820247 False 1 0;0;100 4.5 False ENSG00000135547 ENSG00000135547 HGNC:4881 HNRNPK gene HNRNPK Expert Review Red;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;20;80 4.5 False ENSG00000165119 ENSG00000165119 HGNC:5044 KCNN1 gene KCNN1 Expert Review Red;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology Unknown False 1 0;0;100 4.5 False ENSG00000105642 ENSG00000105642 HGNC:6290 LTBP2 gene LTBP2 Expert Review Red;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology BIALLELIC, autosomal or pseudoautosomal Marfan syndrome False 1 0;0;100 4.5 False ENSG00000119681 ENSG00000119681 HGNC:6715 MAT2A gene MAT2A Expert Review Red;London South GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology False 1 0;50;50 4.5 False ENSG00000168906 ENSG00000168906 HGNC:6904 MED12 gene MED12 Expert Review Red;London South GLH;NHS GMS;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Lujan-Fryns syndrome, OMIM:309520;Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders 17369503;20630950;23506379;28724790 False 1 29;14;57 4.5 False ENSG00000184634 ENSG00000184634 HGNC:11957 MYLK2 gene MYLK2 Expert Review Red;London South GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology False 1 0;25;75 4.5 False ENSG00000101306 ENSG00000101306 HGNC:16243 PKD1 gene PKD1 Expert Review Red;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Connective Tissue Disorders;Polycystic kidney disease, adult type I,173900 False 1 0;0;100 4.5 False ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 Expert Review Red;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Connective Tissue Disorders;Polycystic kidney disease 2, 613095 False 1 0;0;100 4.5 False ENSG00000118762 ENSG00000118762 HGNC:9009 SLC39A13 gene SLC39A13 Expert Review Red;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 4.5 False ENSG00000165915 ENSG00000165915 HGNC:20859 SMAD6 gene SMAD6 Expert Review Red;London South GLH;NHS GMS Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aortic valve disease 2 614823 30796334;28659821;30963242;39069920;40133303 False 1 14;43;43 4.5 False ENSG00000137834 ENSG00000137834 HGNC:6772 THBS2 gene THBS2 Expert Review Red;Literature Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Ehlers-Danlos syndrome, classic-like, 3, OMIM:620865 38433265 False 1 0;0;100 4.5 False Other ENSG00000186340 ENSG00000186340 HGNC:11786 TNXB gene TNXB Expert Review Red;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 4.5 False ENSG00000168477 ENSG00000168477 HGNC:11976 ZNF469 gene ZNF469 Expert Review Red;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 4.5 False ENSG00000225614 ENSG00000225614 HGNC:23216