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 Connective tissues disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital heart defects and skeletal malformations syndrome, OMIM:617602 28288113 False 2 100;0;0 3.11 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 Connective tissues disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aortic aneurysm, familial thoracic 6, OMIM:611788 17994018;19409525;21248741;20734336 False 2 100;0;0 3.11 False ENSG00000107796 ENSG00000107796 HGNC:130 DCC gene DCC Expert Review Amber;Literature Ehlers Danlos syndrome with a likely monogenic cause Connective tissues disorders Rheumatological disorders BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542 28250456 False 2 0;100;0 3.11 False ENSG00000187323 ENSG00000187323 HGNC:2701 EFEMP1 gene EFEMP1 Expert Review Amber;Literature Ehlers Danlos syndrome with a likely monogenic cause Connective tissues disorders Rheumatological disorders BIALLELIC, autosomal or pseudoautosomal Connective tissue disorder 32006683;31792352;33807164 False 2 100;0;0 3.11 False ENSG00000115380 ENSG00000115380 HGNC:3218 IPO8 gene IPO8 Expert Review Amber;Literature Ehlers Danlos syndrome with a likely monogenic cause Connective tissues disorders Rheumatological disorders BIALLELIC, autosomal or pseudoautosomal Loeys-Dietz syndrome-like;cardiovascular, neurologic, skeletal and immunologic abnormalities 34010604;34010605 False 2 33;67;0 3.11 False ENSG00000133704 ENSG00000133704 HGNC:9853 LTBP1 gene LTBP1 Expert Review Amber;Literature Ehlers Danlos syndrome with a likely monogenic cause Connective tissues disorders Rheumatological disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIE, OMIM:619451;Joint hyperlaxity 33991472 False 2 67;33;0 3.11 False ENSG00000049323 ENSG00000049323 HGNC:6714 LTBP2 gene LTBP2 Expert Review Amber;Literature Ehlers Danlos syndrome with a likely monogenic cause Connective tissues disorders Rheumatological disorders BIALLELIC, autosomal or pseudoautosomal Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, OMIM:251750;Glaucoma 3, primary congenital, D, OMIM:613086;Weill-Marchesani syndrome 3, recessive, OMIM:614819 20179738;20617341;22539340;19361779 False 2 0;100;0 3.11 False ENSG00000119681 ENSG00000119681 HGNC:6715 MYLK gene MYLK Emory Genetics Laboratory;Expert list;Expert Review Amber;NHS GMS Ehlers Danlos syndrome with a likely monogenic cause Connective tissues disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aortic aneurysm, familial thoracic 7, OMIM:613780 21055718;26854089;26188975 False 2 60;20;20 3.11 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 Connective tissues disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown connective tissue disease, MONDO:0003900 17676603;26820064;16729972 False 2 40;20;40 3.11 False ENSG00000148400 ENSG00000148400 HGNC:7881 PIEZO2 gene PIEZO2 Expert Review;Expert Review Amber Ehlers Danlos syndrome with a likely monogenic cause Connective tissues disorders Rheumatological disorders BIALLELIC, autosomal or pseudoautosomal ?Marden-Walker syndrome, OMIM:248700;connective tissue disease, MONDO:0003900 24726473 False 2 0;100;0 3.11 False ENSG00000154864 ENSG00000154864 HGNC:26270