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
ADAMTSL2	gene	ADAMTSL2	Expert Review Amber;Literature	Aortopathy_Connective Tissue Disorders		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Dermatosparaxic Ehlers Danlos syndrome			Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166	33369194;26879370		False	2	0;100;0	1.86	True		ENSG00000197859	ENSG00000197859	HGNC:14631													
ATP6V1A	gene	ATP6V1A	Expert Review Amber;Literature	Aortopathy_Connective Tissue Disorders		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Cutis laxa, autosomal recessive, type IID (MIM# 617403)			Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166	PMID: 28065471		False	2	50;50;0	1.86	True		ENSG00000114573	ENSG00000114573	HGNC:851													
COL6A1	gene	COL6A1	Expert Review Amber;Literature	Aortopathy_Connective Tissue Disorders		Cardiovascular disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Bethlem myopathy 1 MIM #158810;Ullrich congenital muscular dystrophy 1 MIM #254090			Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166	PMID: 29277723;24443028.		False	2	50;50;0	1.86	True	Other	ENSG00000142156	ENSG00000142156	HGNC:2211													
COL6A3	gene	COL6A3	Expert Review Amber;Literature	Aortopathy_Connective Tissue Disorders		Cardiovascular disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Bethlem myopathy 1 MIM #158810;Ullrich congenital muscular dystrophy 1 MIM #254090			Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166	PMID: 29277723;24443028.		False	2	50;50;0	1.86	True	Other	ENSG00000163359	ENSG00000163359	HGNC:2213													
FOXE3	gene	FOXE3	Expert Review Amber;Literature	Aortopathy_Connective Tissue Disorders		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"{Aortic aneurysm, familial thoracic 11, susceptibility to}, MIM#	617349"			Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166	30071989;26854927		False	2	0;100;0	1.86	True		ENSG00000186790	ENSG00000186790	HGNC:3808													
GORAB	gene	GORAB	Expert Review Amber;Literature	Aortopathy_Connective Tissue Disorders		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Geroderma osteodysplasticum MIM#231070			Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166	18997784;19681135		False	2	0;100;0	1.86	True		ENSG00000120370	ENSG00000120370	HGNC:25676													
HCN4	gene	HCN4	ClinGen;Expert Review Amber	Aortopathy_Connective Tissue Disorders		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sick sinus syndrome 2 with cardiac noncompaction and ascending aorta dilation			Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166	30071989;27173043		False	2	0;100;0	1.86	True		ENSG00000138622	ENSG00000138622	HGNC:16882													
JAG1	gene	JAG1	Expert Review Amber;Literature	Aortopathy_Connective Tissue Disorders		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	thoracic aortic aneurysm MONDO:0005396			Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166	35819173;30071989;14993126;18570795		False	2	0;100;0	1.86	True		ENSG00000101384	ENSG00000101384	HGNC:6188													
MAPK8	gene	MAPK8	Expert Review Amber;Literature	Aortopathy_Connective Tissue Disorders		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Chronic mucocutaneous candidiasis;Connective tissue disorders			Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166	31784499		False	2	0;100;0	1.86	True		ENSG00000107643	ENSG00000107643	HGNC:6881													
MAT2A	gene	MAT2A	ClinGen;Expert Review Amber	Aortopathy_Connective Tissue Disorders		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Thoracic aortic aneurysm			Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166	30071989;25557781		False	2	0;100;0	1.86	True		ENSG00000168906	ENSG00000168906	HGNC:6904													
MFAP5	gene	MFAP5	Expert Review Amber;Literature	Aortopathy_Connective Tissue Disorders		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Aortic aneurysm, familial thoracic MIM# 616166;MONDO:0014514			Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166	25434006;30763214;33807627;33514025;29524629		False	2	0;100;0	1.86	True		ENSG00000197614	ENSG00000197614	HGNC:29673													
PIEZO2	gene	PIEZO2	Expert Review Amber;Literature	Aortopathy_Connective Tissue Disorders		Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Marden-Walker syndrome (MIM#248700);Arthrogryposis, distal, type 3 (MIM#114300);Arthrogryposis, distal, type 5 (MIM#108145)			Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166	24726473		False	2	0;100;0	1.86	True		ENSG00000154864	ENSG00000154864	HGNC:26270													
PMEPA1	gene	PMEPA1	Expert Review Amber;Literature	Aortopathy_Connective Tissue Disorders		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hereditary disorder of connective tissue, MONDO:0023603, PMEPA1-related			Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166	36928819		False	2	0;100;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	ENSG00000124225	ENSG00000124225	HGNC:14107													
ROBO4	gene	ROBO4	Expert Review Amber;Literature	Aortopathy_Connective Tissue Disorders		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Aortic valve disease 8, MIM# 618496;bicuspid aortic valve;ascending aortic aneurysm;ascending aorta dilatation			Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166	30455415		False	2	50;50;0	1.86	True		ENSG00000154133	ENSG00000154133	HGNC:17985													
SMAD6	gene	SMAD6	Expert Review Amber;Literature	Aortopathy_Connective Tissue Disorders		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Aortic valve disease 2 MIM# 614823			Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166	22275001;28659821;30963242;30848080;30796334		False	2	0;100;0	1.86	True		ENSG00000137834	ENSG00000137834	HGNC:6772													
THBS2	gene	THBS2	Expert Review Amber;Literature	Aortopathy_Connective Tissue Disorders		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ehlers-Danlos syndrome, classic type, 3, MIM# 620865			Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166	PMID: 38433265		False	2	0;100;0	1.86	True		ENSG00000186340	ENSG00000186340	HGNC:11786													
TLN1	gene	TLN1	Expert Review Amber;Literature	Aortopathy_Connective Tissue Disorders		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	idiopathic spontaneous coronary artery dissection MONDO:0007385			Aortic aneurysm;HP:0004942;Joint dislocation;HP:0001373;Cutis laxa;HP:0000973; Ectopia lentis;HP:0001083;Arachnodactyly;HP:0001166	30888838		False	2	0;100;0	1.86	True		ENSG00000137076	ENSG00000137076	HGNC:11845