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;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart defects and skeletal malformations syndrome (MIM# 617602) Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 30071989;28288113 False 3 50;50;0 1.86 True ENSG00000097007 ENSG00000097007 HGNC:76 ACTA2 gene ACTA2 Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Aortic aneurysm, familial thoracic 6, MIM# 611788" Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 30724374 False 3 100;0;0 1.86 True ENSG00000107796 ENSG00000107796 HGNC:130 ADAMTS10 gene ADAMTS10 Expert Review Green;Other Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani syndrome 1, recessive MIM#277600 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 15368195;20301293 False 3 100;0;0 1.86 True ENSG00000142303 ENSG00000142303 HGNC:13201 ADAMTS17 gene ADAMTS17 Expert Review Green;Other Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Weill-Marchesani 4 syndrome, recessive MIM#613195 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 19836009;20301293 False 3 100;0;0 1.86 True ENSG00000140470 ENSG00000140470 HGNC:17109 ADAMTS2 gene ADAMTS2 Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410) Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 PMID: 30071989;26765342;28306229 False 3 100;0;0 1.86 True ENSG00000087116 ENSG00000087116 HGNC:218 AEBP1 gene AEBP1 Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000" Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 29606302;30668708;30548383;30759870 False 3 100;0;0 1.86 True ENSG00000106624 ENSG00000106624 HGNC:303 ALDH18A1 gene ALDH18A1 Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Cutis laxa, autosomal dominant 3 (MIM# 616603);Cutis laxa, autosomal recessive, type IIIA (MIM# 219150) Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 PMID: 30071989;26320891;24913064;18478038;21739576;22411858;28228640 False 3 100;0;0 1.86 True ENSG00000059573 ENSG00000059573 HGNC:9722 ARIH1 gene ARIH1 Expert Review Green;Other Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thoracic aortic aneurysm, MONDO:0005396, ARIH1-related Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 29689197;32102558 False 3 100;0;0 1.86 True ENSG00000166233 ENSG00000166233 HGNC:689 ATP6V0A2 gene ATP6V0A2 Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIA (MIM# 219200), Wrinkly skin syndrome (MIM# 278250) Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 PMID: 23963297 False 3 100;0;0 1.86 True ENSG00000185344 ENSG00000185344 HGNC:18481 ATP6V1E1 gene ATP6V1E1 Expert list;Expert Review Green Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIC MIM#617402 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 28065471;27023906 False 3 100;0;0 1.86 True ENSG00000131100 ENSG00000131100 HGNC:857 ATP7A gene ATP7A Expert list;Expert Review Green Aortopathy_Connective Tissue Disorders Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Occipital horn syndrome, MIM#304150;Menkes disease, MIM#309400 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 False 3 100;0;0 1.86 True ENSG00000165240 ENSG00000165240 HGNC:869 B3GALT6 gene B3GALT6 Expert list;Expert Review Green Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Ehlers Danlos syndrome, progeroid type, 2, 615349;Spondylodysplastic EDS Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 29931299;28306229 False 3 100;0;0 1.86 True ENSG00000176022 ENSG00000176022 HGNC:17978 B4GALT7 gene B4GALT7 Expert list;Expert Review Green Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome with short stature and limb anomalies, 130070;Spondylodysplastic EDS Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 28306229;26940150;24755949;23956117 False 3 100;0;0 1.86 True ENSG00000027847 ENSG00000027847 HGNC:930 BGN gene BGN Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Meester-Loeys syndrome, MIM# 300989" Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 30071989;27632686;17502576 False 3 100;0;0 1.86 True ENSG00000182492 ENSG00000182492 HGNC:1044 C1R gene C1R Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080) Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 30071989;27745832;28306229 False 3 100;0;0 1.86 True ENSG00000159403 ENSG00000159403 HGNC:1246 C1S gene C1S Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Ehlers-Danlos syndrome, periodontal type, 2 MIM#617174" Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 30071989;27745832;31921203;28306229 False 3 100;0;0 1.86 True ENSG00000182326 ENSG00000182326 HGNC:1247 CBS gene CBS Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria (MIM# 236200) Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 30071989;1301198;10408774;7762555;12815602;16307898;25455305;26667307;29508359 False 3 100;0;0 1.86 True ENSG00000160200 ENSG00000160200 HGNC:1550 CHST14 gene CHST14 Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 1 (MIM# 601776) Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 PMID: 28306229;25703627;26373698 False 3 100;0;0 1.86 True ENSG00000169105 ENSG00000169105 HGNC:24464 COL11A1 gene COL11A1 Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stickler syndrome, type II MIM#604841 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 8872475;20301479 False 3 100;0;0 1.86 True ENSG00000060718 ENSG00000060718 HGNC:2186 COL12A1 gene COL12A1 Expert list;Expert Review Green Aortopathy_Connective Tissue Disorders Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathic EDS;Bethlem myopathy 2 MIM#616471;Ullrich congenital muscular dystrophy 2 MIM#616470 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 28306229;31273343;24334604;37458870;37353357 False 3 100;0;0 1.86 True ENSG00000111799 ENSG00000111799 HGNC:2188 COL1A1 gene COL1A1 Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM# 130060" Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 30071989;28981071 False 3 100;0;0 1.86 True ENSG00000108821 ENSG00000108821 HGNC:2197 COL1A2 gene COL1A2 Expert list;Expert Review Green Aortopathy_Connective Tissue Disorders Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ehlers-Danlos syndrome, arthrochalasia type, 2 MIM#617821;Ehlers-Danlos syndrome, cardiac valvular type MIM#225320 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 28306229;32091183;2993307;30821104 False 3 100;0;0 1.86 True ENSG00000164692 ENSG00000164692 HGNC:2198 COL2A1 gene COL2A1 Expert Review Green;Other Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stickler syndrome, type I MIM#108300 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 1677770;20301479 False 3 100;0;0 1.86 True ENSG00000139219 ENSG00000139219 HGNC:2200 COL3A1 gene COL3A1 Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Ehlers-Danlos syndrome, vascular type, MIM# 130050;Polymicrogyria with or without vascular-type EDS, MIM# 618343" Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 30071989;25758994 False 3 100;0;0 1.86 True ENSG00000168542 ENSG00000168542 HGNC:2201 COL5A1 gene COL5A1 Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Ehlers-Danlos syndrome, classic type, 1, MIM# 130000;Fibromuscular dysplasia, multifocal, MIM# 619329" Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 30071989;32938213 False 3 100;0;0 1.86 True ENSG00000130635 ENSG00000130635 HGNC:2209 COL5A2 gene COL5A2 Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome, classic type, 2, MIM#130010 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 20847697;22696272 False 3 100;0;0 1.86 True ENSG00000204262 ENSG00000204262 HGNC:2210 DLG4 gene DLG4 Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder 62, MIM#618793;Marfanoid features Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 33597769;29460436 False 3 100;0;0 1.86 True ENSG00000132535 ENSG00000132535 HGNC:2903 DSE gene DSE Expert list;Expert Review Green Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 2 MIM#615539 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 28306229;23704329;25703627;32130795 False 3 100;0;0 1.86 True ENSG00000111817 ENSG00000111817 HGNC:21144 EFEMP1 gene EFEMP1 Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type ID, MIM# 620780 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 32006683;31792352;33807164 False 3 50;50;0 1.86 True ENSG00000115380 ENSG00000115380 HGNC:3218 EFEMP2 gene EFEMP2 Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IB MIM# 614437 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 20389311;19664000;16685658;17937443;22943132;22440127 False 3 100;0;0 1.86 True ENSG00000172638 ENSG00000172638 HGNC:3219 ELN gene ELN Expert Review Green;Other Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cutis laxa 123700;Supravalvar aortic stenosis 185500 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 27866049;31560829;19844261;19844261 False 3 100;0;0 1.86 True ENSG00000049540 ENSG00000049540 HGNC:3327 EMILIN1 gene EMILIN1 Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Neuronopathy, distal hereditary motor, type X, MIM# 620080;Arterial tortuosity-bone fragility syndrome, MIM# 620908" Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 PMID: 36351433;31978608;26462740 False 3 50;50;0 1.86 True ENSG00000138080 ENSG00000138080 HGNC:19880 FBLN5 gene FBLN5 Expert list;Expert Review Green Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Cutis laxa, autosomal recessive, type IA, MIM# 219100" Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 3232707;22829427;11805835 False 3 100;0;0 1.86 True ENSG00000140092 ENSG00000140092 HGNC:3602 FBN1 gene FBN1 Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marfan syndrome (154700);MASS syndrome (604308) Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 29357934 False 3 100;0;0 1.86 True ENSG00000166147 ENSG00000166147 HGNC:3603 FBN2 gene FBN2 Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Contractural arachnodactyly, congenital, MIM# 121050 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 33571691 False 3 100;0;0 1.86 True ENSG00000138829 ENSG00000138829 HGNC:3604 FKBP14 gene FKBP14 Expert list;Expert Review Green Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MIM#614557 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 22265013;28306229;24773188;27149304 False 3 100;0;0 1.86 True ENSG00000106080 ENSG00000106080 HGNC:18625 FLNA gene FLNA Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Heterotopia, periventricular, 1 MIM# 300049;Cardiac valvular dysplasia, X-linked MIM# 314400. Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 30071989;29334594 False 3 100;0;0 1.86 True ENSG00000196924 ENSG00000196924 HGNC:3754 IPO8 gene IPO8 Expert Review;Expert Review Green Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472;Loeys-Dietz syndrome-like;cardiovascular, neurologic, skeletal and immunologic abnormalities" Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 34010604 False 3 50;50;0 1.86 True ENSG00000133704 ENSG00000133704 HGNC:9853 KCNMA1 gene KCNMA1 Expert list;Expert Review Green Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Liang-Wang syndrome, MIM# 618729" Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 31152168 False 3 100;0;0 1.86 True ENSG00000156113 ENSG00000156113 HGNC:6284 LOX gene LOX Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 10, MIM#617168 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 30071989;26838787;30675029 False 3 100;0;0 1.86 True ENSG00000113083 ENSG00000113083 HGNC:6664 LTBP1 gene LTBP1 Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIE MIM#619451 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 33991472 False 3 100;0;0 1.86 True ENSG00000049323 ENSG00000049323 HGNC:6714 LTBP3 gene LTBP3 Expert Review Green;Other Aortopathy_Connective Tissue Disorders Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Thoracic aortic aneurysms and dissections Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 29625025;34150014 False 3 50;50;0 1.86 True ENSG00000168056 ENSG00000168056 HGNC:6716 LTBP4 gene LTBP4 Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Cutis laxa, autosomal recessive, type IC (MIM# 613177)" Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 PMID: 22829427 False 3 100;0;0 1.86 True ENSG00000090006 ENSG00000090006 HGNC:6717 MED12 gene MED12 Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Lujan-Fryns syndrome, MIM# 309520;Ohdo syndrome, X-linked, MIM# 300895;Opitz-Kaveggia syndrome, MIM# 305450" Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 30071989;19938245;17369503 False 3 100;0;0 1.86 True ENSG00000184634 ENSG00000184634 HGNC:11957 MYH11 gene MYH11 Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders Unknown Aortic aneurysm, familial thoracic 4, MIM#160745 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 30071989;16444274;17666408;27081537 False 3 100;0;0 1.86 True ENSG00000133392 ENSG00000133392 HGNC:7569 MYLK gene MYLK Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 7, MIM#613780 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 30071989;27586135;21055718;25907466 False 3 100;0;0 1.86 True ENSG00000065534 ENSG00000065534 HGNC:7590 NOTCH1 gene NOTCH1 Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aortic valve disease MIM# 109730;Thoracic aortic aneurysm Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 16729972;26820064;16025100;25963545 False 3 100;0;0 1.86 True ENSG00000148400 ENSG00000148400 HGNC:7881 NPR3 gene NPR3 Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Boudin-Mortier syndrome, MIM#619543;Tall stature, skeletal abnormalities, aortic dilatation Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 30032985 False 3 100;0;0 1.86 True ENSG00000113389 ENSG00000113389 HGNC:7945 PCGF2 gene PCGF2 Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Turnpenny-Fry syndrome, MIM#618371 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 30343942 False 3 50;50;0 1.86 True ENSG00000056661 ENSG00000277258 HGNC:12929 PDGFRB gene PDGFRB Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted aneurysm;scoliosis;atrophic skin;stroke;infantile myofibromatosis Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 PMID: 33683022;32291752 False 3 100;0;0 1.86 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000113721 ENSG00000113721 HGNC:8804 PLOD1 gene PLOD1 Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, kyphoscoliotic type, MIM# 225400 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 28306225;28306229 False 3 100;0;0 1.86 True ENSG00000083444 ENSG00000083444 HGNC:9081 PLOD3 gene PLOD3 Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Lysyl hydroxylase 3 deficiency, MIM#612394 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 18834968;31129566;30237576;30463024 False 3 100;0;0 1.86 True ENSG00000106397 ENSG00000106397 HGNC:9083 PRDM5 gene PRDM5 Expert list;Expert Review Green Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Brittle cornea syndrome 2, MIM#614170 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 28306229;21664999 False 3 100;0;0 1.86 True ENSG00000138738 ENSG00000138738 HGNC:9349 PRKG1 gene PRKG1 Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 8, MIM#615436 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 30071989;23910461;30577811 False 3 100;0;0 1.86 True ENSG00000185532 ENSG00000185532 HGNC:9414 PTDSS1 gene PTDSS1 Expert list;Expert Review Green Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lenz-Majewski hyperostotic dwarfism MIM#151050 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 24241535;29341480;31403251 False 3 100;0;0 1.86 True Other ENSG00000156471 ENSG00000156471 HGNC:9587 PYCR1 gene PYCR1 Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Cutis laxa, autosomal recessive, type IIB, MIM# 612940;Cutis laxa, autosomal recessive, type IIIB, MIM# 614438" Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 PMID: 19648921;4076251;22052856;19576563;19648921;9648921;22052856;28294978;27756598 False 3 100;0;0 1.86 True ENSG00000183010 ENSG00000183010 HGNC:9721 RIN2 gene RIN2 Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Macrocephaly, alopecia, cutis laxa, and scoliosis (MIM# 613075) Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 19631308;20424861;23963297;24449201 False 3 100;0;0 1.86 True ENSG00000132669 ENSG00000132669 HGNC:18750 SKI gene SKI Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Shprintzen-Goldberg syndrome, MIM#182212 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 30071989;23023332;24736733 False 3 100;0;0 1.86 True ENSG00000157933 ENSG00000157933 HGNC:10896 SLC2A10 gene SLC2A10 Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Arterial tortuosity syndrome MIM#208050 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 30071989;16550171;17935213 False 3 100;0;0 1.86 True ENSG00000197496 ENSG00000197496 HGNC:13444 SLC39A13 gene SLC39A13 Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, spondylodysplastic type, MIM# 612350 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 18985159;18513683;28306229;28306225 False 3 100;0;0 1.86 True ENSG00000165915 ENSG00000165915 HGNC:20859 SMAD2 gene SMAD2 Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 6, MIM# 619656 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 29967133 False 3 100;0;0 1.86 True ENSG00000175387 ENSG00000175387 HGNC:6768 SMAD3 gene SMAD3 Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 3, MIM# 613795 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 21217753;30661052 False 3 100;0;0 1.86 True ENSG00000166949 ENSG00000166949 HGNC:6769 SMAD4 gene SMAD4 Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050;Thoracic aortic aneurysm" Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 30809044 False 3 100;0;0 1.86 True ENSG00000141646 ENSG00000141646 HGNC:6770 TGFB2 gene TGFB2 Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Loeys-Dietz syndrome 4, MIM# 614816" Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 30071989;22772371 False 3 100;0;0 1.86 True ENSG00000092969 ENSG00000092969 HGNC:11768 TGFB3 gene TGFB3 Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Loeys-Dietz syndrome 5, MI# 615582" Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 30071989;25835445 False 3 50;50;0 1.86 True ENSG00000119699 ENSG00000119699 HGNC:11769 TGFBR1 gene TGFBR1 Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Loeys-Dietz syndrome 1, MIM# 609192" Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 30071989;27879313 False 3 100;0;0 1.86 True ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Expert Review Green;Victorian Clinical Genetics Services Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Loeys-Dietz syndrome 2, MIM# 610168" Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 30071989;27879313 False 3 100;0;0 1.86 True ENSG00000163513 ENSG00000163513 HGNC:11773 THSD4 gene THSD4 Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 12, MIM# 619825 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 PMID: 32855533 False 3 100;0;0 1.86 True ENSG00000187720 ENSG00000187720 HGNC:25835 TNXB gene TNXB Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, classic-like, 1 MIM# 606408 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 28306229;28306225;23620400 False 3 100;0;0 1.86 True ENSG00000168477 ENSG00000168477 HGNC:11976 ZNF469 gene ZNF469 Expert Review Green;Literature Aortopathy_Connective Tissue Disorders Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Brittle cornea syndrome 1,MIM# 229200 Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166 28306229;28306225 False 3 100;0;0 1.86 True ENSG00000225614 ENSG00000225614 HGNC:23216