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 ABL1 gene ABL1 Expert Review Green;Literature;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart defects and skeletal malformations syndrome, 617602;Congenital finger flexion contractures (HP:0005879);Congenital septal defect (HP:0004760);Generalized joint laxity (HP:0002761);Ascending aortic dilation (HP:0004970);Scoliosis (HP:0002650);Failure to thrive in infancy (HP:0001531);Hypospadias (HP:0000047);Pectus excavatum (HP:0000767) 28288113 False 3 33;33;33 1.129 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000097007 ENSG00000097007 HGNC:76 ACTA2 gene ACTA2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;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 Aortic aneurysm, familial thoracic 6, 611788;Thoracic Aortic Aneurysms and Aortic Dissections ;Moyamoya disease 5 (614042);Thoracic aortic aneurysm and dissection; Moyamoya disease 5, 614042;Isolated familial thoracic aortic aneurysms and dissection;Multisystemic smooth muscle dysfunction syndrome (613834);Aortic aneurysm, familial thoracic 6 (611788); Multisystemic smooth muscle dysfunction syndrome, 613834 17994018 False 3 83;17;0 1.129 True ENSG00000107796 ENSG00000107796 HGNC:130 ADAMTSL4 gene ADAMTSL4 Expert Review Green;UKGTN Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Ectopia lentis et pupillae;Ectopia lentis, isolated, autosomal recessive False 3 100;0;0 1.129 False ENSG00000143382 ENSG00000143382 HGNC:19706 ARIH1 gene ARIH1 Expert Review Green;Literature Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thoracic aortic aneurysm, MONDO:0005396 29689197;32102558 False 3 100;0;0 1.129 False ENSG00000166233 ENSG00000166233 HGNC:689 BGN gene BGN Expert Review Green;London South GLH;Other;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) syndromic thoracic aortic aneurysm and dissection; X-linked syndromic TAAD 27632686;17502576 False 3 67;33;0 1.129 True ENSG00000182492 ENSG00000182492 HGNC:1044 COL1A1 gene COL1A1 Expert list;Expert Review Green;London South GLH;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome, classic, 130000;Ehlers-Danlos syndrome, type VIIA, 130060 26188975;14630726 False 3 33;33;33 1.129 True ENSG00000108821 ENSG00000108821 HGNC:2197 COL1A2 gene COL1A2 Expert list;Expert Review Green;London South GLH;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ehlers-Danlos syndrome, cardiac valvular form;Ehlers-Danlos syndrome, type VIIB 15077201;17211858;21593863 False 3 33;33;33 1.129 True ENSG00000164692 ENSG00000164692 HGNC:2198 COL3A1 gene COL3A1 Emory Genetics Laboratory;Expert list;Expert Review Green;London South GLH;North West GLH;South West GLH;UKGTN Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ehlers-Danlos syndrome, vascular type, OMIM:130050;Polymicrogyria with or without vascular-type EDS, OMIM:618343 25758994;2243125 False 3 83;17;0 1.129 True ENSG00000168542 ENSG00000168542 HGNC:2201 COL5A1 gene COL5A1 Emory Genetics Laboratory;Expert list;Expert Review Green;London South GLH;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome, classic type, OMIM:130000;Fibromuscular dysplasia, multifocal, OMIM:619329 26188975;10946364;28868310;25845371;239975631;2180144;29543232;32938213 False 3 40;60;0 1.129 True ENSG00000130635 ENSG00000130635 HGNC:2209 COL5A2 gene COL5A2 Emory Genetics Laboratory;Expert list;Expert Review Green;London South GLH;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted multisystemic smooth muscle dysfunction syndrome;Ehlers-Danlos syndrome, classic type, 130000 26188975;29543232 False 3 50;50;0 1.129 True ENSG00000204262 ENSG00000204262 HGNC:2210 EFEMP2 gene EFEMP2 Expert list;Expert Review Green;London South GLH;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IB, 614437;aortic aneurysm 20019329;17937443;22440127;16685658 False 3 75;25;0 1.129 True ENSG00000172638 ENSG00000172638 HGNC:3219 ELN gene ELN Expert list;Expert Review Green;London South GLH;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cutis laxa, autosomal dominant, 123700;Supravalvar aortic stenosis, 185500 16085695 False 3 67;33;0 1.129 True ENSG00000049540 ENSG00000049540 HGNC:3327 FBLN5 gene FBLN5 Expert list;Expert Review Green;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Cutis laxa, autosomal dominant 2, OMIM:614434;Cutis laxa, autosomal recessive, type IA, OMIM:219100 12189163;27089918;11805835;11805834;16153447 False 3 67;33;0 1.129 True ENSG00000140092 ENSG00000140092 HGNC:3602 FBN1 gene FBN1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;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 Ectopia lentis, familial (129600);Marfan syndrome (154700);Marfan lipodystrophy syndrome (616914);Aortic aneurysm, ascending, and dissection ;Weill-Marchesani syndrome 2, dominant, (608328);Acromicric dysplasia (102370);Stiff skin syndrome (184900);MASS syndrome (604308);ongenital contracturalarachnodactyly;Geleophysic dysplasia 2 (614185);Marfan Syndrome 20082464 False 3 86;14;0 1.129 True ENSG00000166147 ENSG00000166147 HGNC:3603 FBN2 gene FBN2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;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 Contractural arachnodactyly, congenital, 121050;Congenital Contractural Arachnodactyly 25975422 False 3 50;50;0 1.129 True ENSG00000138829 ENSG00000138829 HGNC:3604 FLCN gene FLCN Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;London South GLH;South West GLH;UKGTN Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pneumothorax, primary spontaneous, 173600;Birt-Hogg-Dube syndrome,135150 15657874;17496196;20413710;21550484;19483054;15852235;15805188;12204536;26928018 False 3 0;75;25 1.129 False ENSG00000154803 ENSG00000154803 HGNC:27310 FLNA gene FLNA Emory Genetics Laboratory;Expert list;Expert Review Green;London South GLH;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cardiac valvular dysplasia, X-linked, OMIM:314400;Heterotopia, periventricular, 1, OMIM:300049 23032111;26188975;17172441 False 3 75;25;0 1.129 True ENSG00000196924 ENSG00000196924 HGNC:3754 IPO8 gene IPO8 Expert Review Green;Literature Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Loeys-Dietz syndrome-like;cardiovascular, neurologic, skeletal and immunologic abnormalities 34010604;34010605 False 3 100;0;0 1.129 False ENSG00000133704 ENSG00000133704 HGNC:9853 LOX gene LOX Expert Review Green;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;Aortic aneurysm, familial thoracic 10, 617168 26838787;27432961 False 3 50;50;0 1.129 True ENSG00000113083 ENSG00000113083 HGNC:6664 MYH11 gene MYH11 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;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 Aortic aneurysm, familial thoracic 4, 132900 ;Aortic aneurysm, familial thoracic 4 (132900) 27081537;17666408;16444274;doi:10. 1007/ s12265-016-9673-5 False 3 86;14;0 1.129 True ENSG00000133392 ENSG00000133392 HGNC:7569 MYLK gene MYLK Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;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 Aortic aneurysm, familial thoracic 7, OMIM:613780 21055718 False 3 80;20;0 1.129 True ENSG00000065534 ENSG00000065534 HGNC:7590 NOTCH1 gene NOTCH1 Expert Review Green;London South GLH;South West GLH;UKGTN Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic valve disease 1, 109730 16025100;23102684;17662764;26820064;16729972 False 3 67;33;0 1.129 True ENSG00000148400 ENSG00000148400 HGNC:7881 PLOD1 gene PLOD1 Expert Review Green;London South GLH;Other;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, type VI, 225400; kyphoscoliotic EDS 15666309 False 3 67;33;0 1.129 True ENSG00000083444 ENSG00000083444 HGNC:9081 PRKG1 gene PRKG1 Expert Review Green;London South GLH;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 Aortic aneurysm, familial thoracic 8, 615436 False 3 75;25;0 1.129 True ENSG00000185532 ENSG00000185532 HGNC:9414 SKI gene SKI Emory Genetics Laboratory;Expert Review Green;London South GLH;North West GLH;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders;Shprintzen-Goldberg Craniosynostosis Syndrome, 182212;Shprintzen-Goldberg syndrome (182212) 23023332 False 3 80;20;0 1.129 True ENSG00000157933 ENSG00000157933 HGNC:10896 SLC2A10 gene SLC2A10 Emory Genetics Laboratory;Expert list;Expert Review Green;London South GLH;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders;Arterial tortuosity syndrome, 208050 23142374;22001912;16550171 False 3 60;40;0 1.129 True ENSG00000197496 ENSG00000197496 HGNC:13444 SMAD2 gene SMAD2 Expert Review Green;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 arterial aneurysms and dissections 26247899 False 3 67;33;0 1.129 True Other - please provide details in the comments ENSG00000175387 ENSG00000175387 HGNC:6768 SMAD3 gene SMAD3 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;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 Loeys Dietz syndrome, type 3, 613795 ;Loeys Dietz syndrome, type 3 (613795) 21217753;29392890 False 3 83;17;0 1.129 True ENSG00000166949 ENSG00000166949 HGNC:6769 SMAD4 gene SMAD4 Expert list;Expert Review Green;London South GLH;South West GLH Thoracic aortic aneurysm or dissection Connective tissue disorders and aortopathies Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 26699655;23239472;25931195 False 3 40;60;0 1.129 True ENSG00000141646 ENSG00000141646 HGNC:6770 TGFB2 gene TGFB2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;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 Loeys-Dietz syndrome 4, 614816;Loeys-Dietz syndrome 4 (614816) 29392890 False 3 86;14;0 1.129 True ENSG00000092969 ENSG00000092969 HGNC:11768 TGFB3 gene TGFB3 Expert Review Green;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 Loeys-Dietz syndrome 5, 615582;Arrhythmogenic right ventricular dysplasia 1, 107970 25835445 False 3 60;20;20 1.129 True ENSG00000119699 ENSG00000119699 HGNC:11769 TGFBR1 gene TGFBR1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;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 Loeys-Dietz syndrome ; Loeys Dietz syndrome, type 2A, 608967;Loeys Dietz syndrome, type 1A, 609192;Loeys Dietz syndrome, type 1A (609192) 16928994 False 3 83;17;0 1.129 True ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;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 Loeys-Dietz syndrome ; Loeys Dietz syndrome, type 2B, 610380 ;Loeys Dietz syndrome, type 2 (610168);Loeys Dietz syndrome, type 1B, 610168 16928994 False 3 83;17;0 1.129 True ENSG00000163513 ENSG00000163513 HGNC:11773