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 (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Failure to thrive in infancy (HP:0001531);Generalized joint laxity (HP:0002761);Ascending aortic dilation (HP:0004970);Congenital finger flexion contractures (HP:0005879);Hypospadias (HP:0000047);Pectus excavatum (HP:0000767);Congenital heart defects and skeletal malformations syndrome, 617602;Scoliosis (HP:0002650);Congenital septal defect (HP:0004760) 28288113 False 3 40;40;20 4.5 False ENSG00000097007 ENSG00000097007 HGNC:76 ACTA2 gene ACTA2 Expert Review Green;London South GLH;North West GLH;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 6, 611788;Aortic aneurysm, familial thoracic 6 (611788);Thoracic aortic aneurysm and dissection;Multisystemic smooth muscle dysfunction syndrome, 613834;Moyamoya disease 5 (614042);Thoracic Aortic Aneurysms and Aortic Dissections;Multisystemic smooth muscle dysfunction syndrome (613834);Moyamoya disease 5, 614042;Isolated familial thoracic aortic aneurysms and dissection 17994018;26888179 False 3 88;12;0 4.5 False ENSG00000107796 ENSG00000107796 HGNC:130 ASPH gene ASPH Expert Review Green;Literature;NHS GMS Thoracic aortic aneurysm or dissection (GMS) Cardiology BIALLELIC, autosomal or pseudoautosomal Traboulsi syndrome, OMIM:601552;facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome, MONDO:0011106 35918038 False 3 100;0;0 4.5 False ENSG00000198363 ENSG00000198363 HGNC:757 BGN gene BGN Expert Review Green;London South GLH;NHS GMS;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) X-linked syndromic TAAD;syndromic thoracic aortic aneurysm and dissection False 3 80;20;0 4.5 False ENSG00000182492 ENSG00000182492 HGNC:1044 CBS gene CBS Expert Review Green;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology BIALLELIC, autosomal or pseudoautosomal Marfan syndrome;Homocystinuria, B6-responsive and nonresponsive types, 236200 747076;18799873;16733360;2041851;23525608;28980096 False 3 43;29;29 4.5 False ENSG00000160200 ENSG00000160200 HGNC:1550 COL1A1 gene COL1A1 Expert Review Green;London South GLH;NHS GMS;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome, arthrochalasia type, 1, OMIM:130060 14630726;26188975;35587586 False 3 44;22;33 4.5 True ENSG00000108821 ENSG00000108821 HGNC:2197 COL3A1 gene COL3A1 Expert Review Green;London South GLH;North West GLH;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology 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;26888179 False 3 88;12;0 4.5 False ENSG00000168542 ENSG00000168542 HGNC:2201 COL5A1 gene COL5A1 Expert Review Green;London South GLH;NHS GMS;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome, classic type, OMIM:130000;Fibromuscular dysplasia, multifocal, OMIM:619329 32938213;28868310;10946364;26188975 False 3 86;14;0 4.5 True ENSG00000130635 ENSG00000130635 HGNC:2209 COL5A2 gene COL5A2 Expert Review Green;London South GLH;NHS GMS;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome, classic type, 130000;multisystemic smooth muscle dysfunction syndrome 28868310 False 3 86;14;0 4.5 True ENSG00000204262 ENSG00000204262 HGNC:2210 EFEMP2 gene EFEMP2 Expert Review Green;London South GLH;NHS GMS;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IB, 614437;aortic aneurysm 28868310;22440127;20019329;17937443 False 3 86;14;0 4.5 False ENSG00000172638 ENSG00000172638 HGNC:3219 ELN gene ELN Expert Review Green;London South GLH;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Supravalvar aortic stenosis, 185500;Cutis laxa, autosomal dominant, 123700 27866049;23250899;27080061;16085695 False 3 43;57;0 4.5 False ENSG00000049540 ENSG00000049540 HGNC:3327 FBLN5 gene FBLN5 Expert Review Green;NHS GMS;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology 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 50;50;0 4.5 False ENSG00000140092 ENSG00000140092 HGNC:3602 FBN1 gene FBN1 Expert Review Green;London South GLH;North West GLH;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Weill-Marchesani syndrome 2, dominant, (608328);Marfan syndrome (154700);Ectopia lentis, familial (129600);Marfan lipodystrophy syndrome (616914);MASS syndrome (604308);Stiff skin syndrome (184900);Geleophysic dysplasia 2 (614185);Marfan Syndrome;Aortic aneurysm, ascending, and dissection;ongenital contracturalarachnodactyly;Acromicric dysplasia (102370) 26888179;20082464;7762551 False 3 89;11;0 4.5 False ENSG00000166147 ENSG00000166147 HGNC:3603 FBN2 gene FBN2 Expert Review Green;London South GLH;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital Contractural Arachnodactyly;Contractural arachnodactyly, congenital, 121050 25944730;29907982 False 3 67;33;0 4.5 False ENSG00000138829 ENSG00000138829 HGNC:3604 FKBP14 gene FKBP14 Expert Review Green;NHS GMS;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, kyphoscoliotic type, 2 614557 22265013 False 3 50;33;17 4.5 False ENSG00000106080 ENSG00000106080 HGNC:18625 FLNA gene FLNA Expert Review Green;London South GLH;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology 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 29334594;9883725;26188975;17172441 False 3 62;38;0 4.5 False ENSG00000196924 ENSG00000196924 HGNC:3754 IPO8 gene IPO8 Expert Review Green;Literature;NHS GMS Thoracic aortic aneurysm or dissection (GMS) Cardiology BIALLELIC, autosomal or pseudoautosomal Loeys-Dietz syndrome-like;cardiovascular, neurologic, skeletal and immunologic abnormalities 34010604;34010605 False 3 100;0;0 4.5 False ENSG00000133704 ENSG00000133704 HGNC:9853 LOX gene LOX Expert Review Green;London South GLH;NHS GMS;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 10, 617168;aortic aneurysm 26838787;27432961 False 3 80;20;0 4.5 False ENSG00000113083 ENSG00000113083 HGNC:6664 MFAP5 gene MFAP5 Expert Review Green;London South GLH;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 9, 616166 False 3 14;86;0 4.5 False ENSG00000197614 ENSG00000197614 HGNC:29673 MYH11 gene MYH11 Expert Review Green;London South GLH;North West GLH;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 4, 132900;Aortic aneurysm, familial thoracic 4 (132900) 17666408;16444274;27081537;26888179 False 3 89;11;0 4.5 False ENSG00000133392 ENSG00000133392 HGNC:7569 MYLK gene MYLK Expert Review Green;London South GLH;North West GLH;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 7, OMIM:613780 27586135;21055718;25907466 False 3 86;14;0 4.5 False ENSG00000065534 ENSG00000065534 HGNC:7590 NOTCH1 gene NOTCH1 Expert Review Green;London South GLH;NHS GMS;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic valve disease 1, 109730 29907982;18593716;16729972;26820064 False 3 83;17;0 4.5 False ENSG00000148400 ENSG00000148400 HGNC:7881 PLOD1 gene PLOD1 Expert Review Green;London South GLH;NHS GMS;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology BIALLELIC, autosomal or pseudoautosomal kyphoscoliotic EDS;Ehlers-Danlos syndrome, type VI, 225400 False 3 57;43;0 4.5 True ENSG00000083444 ENSG00000083444 HGNC:9081 PMEPA1 gene PMEPA1 Expert Review Green;NHS GMS;Research Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted thoracic aortic aneurysm, MONDO:0005396;tall stature;dolichocephaly;abnormal axial skeletal morphology;pes planus;Loeys-Dietz syndrome, MONDO:0018954 36928819 False 3 100;0;0 4.5 False ENSG00000124225 ENSG00000124225 HGNC:14107 PRKG1 gene PRKG1 Expert Review Green;London South GLH;NHS GMS;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 8, 615436 23910461;30577811;27442293 False 3 83;17;0 4.5 False ENSG00000185532 ENSG00000185532 HGNC:9414 SECISBP2 gene SECISBP2 Expert Review Green;Literature;NHS GMS Thoracic aortic aneurysm or dissection (GMS) Cardiology BIALLELIC, autosomal or pseudoautosomal Thyroid hormone metabolism, abnormal, 1, OMIM:609698;thoracic aortic aneurysm 21084748;38042913 False 3 100;0;0 4.5 False ENSG00000187742 ENSG00000187742 HGNC:30972 SKI gene SKI Expert Review Green;London South GLH;North West GLH;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Shprintzen-Goldberg Craniosynostosis Syndrome, 182212;Shprintzen-Goldberg syndrome (182212);Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders 23023332 False 3 86;14;0 4.5 False ENSG00000157933 ENSG00000157933 HGNC:10896 SLC2A10 gene SLC2A10 Expert Review Green;London South GLH;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology BIALLELIC, autosomal or pseudoautosomal Arterial tortuosity syndrome, 208050;Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders 22001912;16550171;25944730;17935213 False 3 88;12;0 4.5 False ENSG00000197496 ENSG00000197496 HGNC:13444 SMAD2 gene SMAD2 Expert Review Green;London South GLH;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted arterial aneurysms and dissections False 3 57;43;0 4.5 False ENSG00000175387 ENSG00000175387 HGNC:6768 SMAD3 gene SMAD3 Expert Review Green;London South GLH;North West GLH;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys Dietz syndrome, type 3 (613795);Loeys Dietz syndrome, type 3, 613795 26888179;21217753;29392890 False 3 88;12;0 4.5 False ENSG00000166949 ENSG00000166949 HGNC:6769 SMAD4 gene SMAD4 Expert Review Green;London South GLH;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 False 3 33;67;0 4.5 False ENSG00000141646 ENSG00000141646 HGNC:6770 TGFB2 gene TGFB2 Expert Review Green;London South GLH;North West GLH;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 4, 614816;Loeys-Dietz syndrome 4 (614816) 29392890;22772368 False 3 89;11;0 4.5 False ENSG00000092969 ENSG00000092969 HGNC:11768 TGFB3 gene TGFB3 Expert Review Green;London South GLH;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 5, 615582;Arrhythmogenic right ventricular dysplasia 1, 107970 25835445 False 3 75;12;12 4.5 False ENSG00000119699 ENSG00000119699 HGNC:11769 TGFBR1 gene TGFBR1 Expert Review Green;London South GLH;North West GLH;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys Dietz syndrome, type 2A, 608967;Loeys-Dietz syndrome;Loeys Dietz syndrome, type 1A, 609192;Loeys Dietz syndrome, type 1A (609192) 16928994;16791849;26888179 False 3 88;12;0 4.5 False ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Expert Review Green;London South GLH;North West GLH;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome;Loeys Dietz syndrome, type 1B, 610168;Loeys Dietz syndrome, type 2 (610168);Loeys Dietz syndrome, type 2B, 610380 16928994;16027248;26888179 False 3 88;12;0 4.5 False ENSG00000163513 ENSG00000163513 HGNC:11773 ARIH1 gene ARIH1 Expert Review Amber;Literature Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thoracic aortic aneurysm, MONDO:0005396 29689197;32102558 False 2 50;50;0 4.5 False ENSG00000166233 ENSG00000166233 HGNC:689 FOXE3 gene FOXE3 Expert Review Amber;London South GLH;South West GLH Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 11, (susceptibility to) 617349 26854927 False 2 29;71;0 4.5 False ENSG00000186790 ENSG00000186790 HGNC:3808 LTBP3 gene LTBP3 Expert Review Amber;NHS GMS Thoracic aortic aneurysm or dissection (GMS) Cardiology BIALLELIC, autosomal or pseudoautosomal Short stature;dental anomalies;aortopathy;facial dysmorphism;learning disability;Dental anomalies and short stature, OMIM:601216 25899461;29625025 False 2 67;33;0 4.5 False ENSG00000168056 ENSG00000168056 HGNC:6716 THSD4 gene THSD4 Expert Review Amber;Literature Thoracic aortic aneurysm or dissection (GMS) Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted familial thoracic aortic aneurysm and aortic dissection, MONDO:0019625 32855533 False 2 50;50;0 4.5 False ENSG00000187720 ENSG00000187720 HGNC:25835