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 list;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal #614473- Arterial calcification, generalized, of infancy, 2;#264800- Pseudoxanthoma elasticum;#177850- Pseudoxanthoma elasticum, forme fruste 10835643 False 1 0;0;100 1.129 False ENSG00000091262 ENSG00000091262 HGNC:57 ACVR1 gene ACVR1 Expert list;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 1.129 False ENSG00000115170 ENSG00000115170 HGNC:171 ADAMTS2 gene ADAMTS2 Expert list;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 225410 Ehlers-Danlos syndrome, type VIIC 10417273 False 1 0;0;100 1.129 False ENSG00000087116 ENSG00000087116 HGNC:218 ALDH18A1 gene ALDH18A1 Expert list;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;100 1.129 False ENSG00000059573 ENSG00000059573 HGNC:9722 ATP6V0A2 gene ATP6V0A2 Expert list;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 1.129 False ENSG00000185344 ENSG00000185344 HGNC:18481 ATP7A gene ATP7A Expert list;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females False 1 0;0;100 1.129 False ENSG00000165240 ENSG00000165240 HGNC:869 B4GALT7 gene B4GALT7 Expert list;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 1.129 False ENSG00000027847 ENSG00000027847 HGNC:930 CHST14 gene CHST14 Expert list;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 1.129 False ENSG00000169105 ENSG00000169105 HGNC:24464 COL11A1 gene COL11A1 Expert list;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;100 1.129 False ENSG00000060718 ENSG00000060718 HGNC:2186 COL11A2 gene COL11A2 Expert list;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;100 1.129 False ENSG00000204248 ENSG00000204248 HGNC:2187 COL2A1 gene COL2A1 Expert list;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 1.129 False ENSG00000139219 ENSG00000139219 HGNC:2200 COL4A1 gene COL4A1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps ;Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773 False 1 0;0;100 1.129 True ENSG00000187498 ENSG00000187498 HGNC:2202 COL9A1 gene COL9A1 Expert list;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 1.129 False ENSG00000112280 ENSG00000112280 HGNC:2217 COL9A2 gene COL9A2 Expert list;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;100 1.129 False ENSG00000049089 ENSG00000049089 HGNC:2218 COL9A3 gene COL9A3 Expert list;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 1.129 False ENSG00000092758 ENSG00000092758 HGNC:2219 EMILIN1 gene EMILIN1 London South GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders False 1 0;100;0 1.129 False ENSG00000138080 ENSG00000138080 HGNC:19880 FKBP14 gene FKBP14 Expert list;Expert Review Red;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal False 1 67;0;33 1.129 True ENSG00000106080 ENSG00000106080 HGNC:18625 FOXE3 gene FOXE3 Literature;London South GLH;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Aortic aneurysm, familial thoracic 11, susceptibility to} 26854927 False 1 50;50;0 1.129 False ENSG00000186790 ENSG00000186790 HGNC:3808 HNRNPK gene HNRNPK Other;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;33;67 1.129 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000165119 ENSG00000165119 HGNC:5044 KCNN1 gene KCNN1 South West GLH;UKGTN Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders Unknown False 1 0;0;100 1.129 False ENSG00000105642 ENSG00000105642 HGNC:6290 LTBP2 gene LTBP2 Literature;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Marfan syndrome 22539340; doi:10. 1007/ s12265-016-9673-5 False 1 0;0;100 1.129 False ENSG00000119681 ENSG00000119681 HGNC:6715 MAT2A gene MAT2A London South GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders False 1 0;100;0 1.129 False ENSG00000168906 ENSG00000168906 HGNC:6904 MED12 gene MED12 Emory Genetics Laboratory;Expert Review Red;London South GLH;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders 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 False 1 50;25;25 1.129 True ENSG00000184634 ENSG00000184634 HGNC:11957 MFAP5 gene MFAP5 London South GLH;Other;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 9, 616166 25434006; 26854089 False 1 0;100;0 1.129 False ENSG00000197614 ENSG00000197614 HGNC:29673 MYLK2 gene MYLK2 London South GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders False 1 0;100;0 1.129 False ENSG00000101306 ENSG00000101306 HGNC:16243 PKD1 gene PKD1 Expert Review;Expert Review Red;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease, adult type I,173900;Connective Tissue Disorders 19165178;20558538;22034641 False 1 0;0;100 1.129 False ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 Expert Review;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 2, 613095;Connective Tissue Disorders False 1 0;0;100 1.129 False ENSG00000118762 ENSG00000118762 HGNC:9009 SLC39A13 gene SLC39A13 Expert list;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 1.129 False ENSG00000165915 ENSG00000165915 HGNC:20859 SMAD6 gene SMAD6 London South GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders False 1 0;100;0 1.129 False ENSG00000137834 ENSG00000137834 HGNC:6772 TNXB gene TNXB Expert list;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 1.129 False ENSG00000168477 ENSG00000168477 HGNC:11976 ZNF469 gene ZNF469 Expert list;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 1.129 False ENSG00000225614 ENSG00000225614 HGNC:23216