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 Amber;Literature	Ehlers Danlos syndrome with a likely monogenic cause		Musculoskeletal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Congenital heart defects and skeletal malformations syndrome, OMIM:617602				28288113		False	2	100;0;0	4.8	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	Emory Genetics Laboratory;Expert list;Expert Review Amber	Ehlers Danlos syndrome with a likely monogenic cause		Musculoskeletal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Aortic aneurysm, familial thoracic 6, OMIM:611788				17994018;19409525;21248741;20734336		False	2	100;0;0	4.8	False		ENSG00000107796	ENSG00000107796	HGNC:130													
ADAMTSL2	gene	ADAMTSL2	Expert Review Amber;Literature	Ehlers Danlos syndrome with a likely monogenic cause		Musculoskeletal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Dermatosparaxic Ehlers Danlos syndrome				33369194;26879370		False	2	0;100;0	4.8	False		ENSG00000197859	ENSG00000197859	HGNC:14631													
DCC	gene	DCC	Expert Review Amber;Literature	Ehlers Danlos syndrome with a likely monogenic cause		Musculoskeletal	BIALLELIC, autosomal or pseudoautosomal	Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542				28250456		False	2	0;100;0	4.8	False		ENSG00000187323	ENSG00000187323	HGNC:2701													
FLNA	gene	FLNA	Emory Genetics Laboratory;Expert list;Expert Review Amber	Ehlers Danlos syndrome with a likely monogenic cause		Musculoskeletal	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				11532987;15249610;15459826;15668422;15994863;15994863;16303888;16684786;19917821;20014127;20730588;20888935;21194575;21960593;22238415;22366253;23032111;24906659;26059841;27091362;27144976;27739212;28177866;28457522;29334594;29449050;30089473;30547349;34863227;40883083		False	2	60;0;40	4.8	False		ENSG00000196924	ENSG00000196924	HGNC:3754													
IPO8	gene	IPO8	Expert Review Amber;Literature	Ehlers Danlos syndrome with a likely monogenic cause		Musculoskeletal	BIALLELIC, autosomal or pseudoautosomal	Loeys-Dietz syndrome-like;cardiovascular, neurologic, skeletal and immunologic abnormalities				34010604;34010605		False	2	33;67;0	4.8	False		ENSG00000133704	ENSG00000133704	HGNC:9853													
LTBP1	gene	LTBP1	Expert Review Amber;Literature	Ehlers Danlos syndrome with a likely monogenic cause		Musculoskeletal	BIALLELIC, autosomal or pseudoautosomal	Cutis laxa, autosomal recessive, type IIE, OMIM:619451;Joint hyperlaxity				33991472		False	2	67;33;0	4.8	False		ENSG00000049323	ENSG00000049323	HGNC:6714													
MYLK	gene	MYLK	Emory Genetics Laboratory;Expert list;Expert Review Amber;NHS GMS	Ehlers Danlos syndrome with a likely monogenic cause		Musculoskeletal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Aortic aneurysm, familial thoracic 7, OMIM:613780				21055718;26854089;26188975		False	2	60;20;20	4.8	False		ENSG00000065534	ENSG00000065534	HGNC:7590													
NOTCH1	gene	NOTCH1	Emory Genetics Laboratory;Expert list;Expert Review Amber;NHS GMS	Ehlers Danlos syndrome with a likely monogenic cause		Musculoskeletal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	connective tissue disease, MONDO:0003900				17676603;26820064;16729972		False	2	40;20;40	4.8	False		ENSG00000148400	ENSG00000148400	HGNC:7881													
OLA1	gene	OLA1	Expert Review Amber;Literature	Ehlers Danlos syndrome with a likely monogenic cause		Musculoskeletal	BIALLELIC, autosomal or pseudoautosomal	Ehlers-Danlos syndrome, hypermobility type, MONDO:0007523;neurodevelopmental disorder,MONDO:0700092;microcephaly, MONDO:0001149				41887223		False	2	100;0;0	4.8	False		ENSG00000138430	ENSG00000138430	HGNC:28833													
PIEZO2	gene	PIEZO2	Expert Review;Expert Review Amber	Ehlers Danlos syndrome with a likely monogenic cause		Musculoskeletal	BIALLELIC, autosomal or pseudoautosomal	?Marden-Walker syndrome, OMIM:248700;connective tissue disease, MONDO:0003900				24726473		False	2	0;100;0	4.8	False		ENSG00000154864	ENSG00000154864	HGNC:26270													
THBS2	gene	THBS2	Expert Review Amber;Literature	Ehlers Danlos syndrome with a likely monogenic cause		Musculoskeletal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	?Ehlers-Danlos syndrome, classic-like, 3, OMIM:620865				38433265		False	2	0;100;0	4.8	False	Other	ENSG00000186340	ENSG00000186340	HGNC:11786