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 ADAMTS2 gene ADAMTS2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, dermatosparaxis type, OMIM:225410 28306229;28306225;1303238;1642226;1403389;15389701;26765342 False 3 75;25;0 4.8 False ENSG00000087116 ENSG00000087116 HGNC:218 AEBP1 gene AEBP1 Expert Review Green;Literature;NHS GMS Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, classic-like, 2, OMIM:618000 29606302 False 3 75;25;0 4.8 False ENSG00000106624 ENSG00000106624 HGNC:303 ALDH18A1 gene ALDH18A1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIIA, OMIM:219150;Cutis laxa, autosomal dominant 3, OMIM:616603 24767728;26320891;11092761;18478038;21739576;24913064 False 3 75;25;0 4.8 False ENSG00000059573 ENSG00000059573 HGNC:9722 ATP6V0A2 gene ATP6V0A2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIA, OMIM:219200;Wrinkly skin syndrome, OMIM:278250 18157129;15657616;22773132;20301755 False 3 80;20;0 4.8 False ENSG00000185344 ENSG00000185344 HGNC:18481 ATP6V1A gene ATP6V1A Expert Review;Expert Review Green;NHS GMS Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IID, OMIM:617403 28065471;33320377 False 3 83;17;0 4.8 False ENSG00000114573 ENSG00000114573 HGNC:851 ATP7A gene ATP7A Expert list;Expert Review Green;NHS GMS Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal X-LINKED: hemizygous mutation in males, biallelic mutations in females Occipital horn syndrome, OMIM:304150 28306229;27604308;10739752;11431706;20170900 False 3 80;20;0 4.8 False ENSG00000165240 ENSG00000165240 HGNC:869 B3GALT6 gene B3GALT6 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, spondylodysplastic type, 2, OMIM:615349;Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, OMIM:271640 23664117;23664118;28306229;28306225 False 3 80;20;0 4.8 False ENSG00000176022 ENSG00000176022 HGNC:17978 B4GALT7 gene B4GALT7 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, spondylodysplastic type, 1, OMIM:130070 23956117;10506123;10473568;12417421;15859521;15211654;15589118;16583246;3631078;27320698;26940150;28306229;28306225 False 3 80;20;0 4.8 False ENSG00000027847 ENSG00000027847 HGNC:930 BGN gene BGN Expert Review Green;NHS GMS;Other 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) Meester-Loeys syndrome, OMIM:300989 27632686 False 3 75;25;0 4.8 False ENSG00000182492 ENSG00000182492 HGNC:1044 C1R gene C1R Expert Review Green;Literature;NHS GMS Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ehlers-Danlos syndrome, periodontal type, 1, OMIM:130080 27745832;28306229;28306225 False 3 80;20;0 4.8 False ENSG00000159403 ENSG00000159403 HGNC:1246 C1S gene C1S Expert Review Green;Literature;NHS GMS Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ehlers-Danlos syndrome, periodontal type, 2, OMIM:617174 27745832;28306229;28306225 False 3 80;20;0 4.8 False ENSG00000182326 ENSG00000182326 HGNC:1247 CBS gene CBS Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;NHS GMS;UKGTN Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Homocystinuria, B6-responsive and nonresponsive types, OMIM:236200 False 3 75;25;0 4.8 False ENSG00000160200 ENSG00000160200 HGNC:1550 CHST14 gene CHST14 Emory Genetics Laboratory;Expert list;Expert Review;Expert Review Green;Literature;NHS GMS;Radboud University Medical Center, Nijmegen Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 1, OMIM:601776 28306229;28306225;9084938;23704329;10766984;11666007;11370633;12508273;16158441;20503305;20842734;21744491;22581468;22987394;22407744;25703627;26373698;26872206 False 3 80;20;0 4.8 False ENSG00000169105 ENSG00000169105 HGNC:24464 COL12A1 gene COL12A1 Expert Review Green;Literature;NHS GMS Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy 2, OMIM:616471;Bethlem myopathy 2, MONDO:0034022 28306229;28306225;24334769;24334604;27348394;35019233 False 3 80;20;0 4.8 False ENSG00000111799 ENSG00000111799 HGNC:2188 COL1A1 gene COL1A1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome, arthrochalasia type, 1, OMIM:130060;Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1, OMIM:619115 28306229;28306225;28192633;17211858;10739762;23587214;2559765;18409203;9295084;1867198 False 3 75;25;0 4.8 False ENSG00000108821 ENSG00000108821 HGNC:2197 COL1A2 gene COL1A2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, OMIM:619120;Ehlers-Danlos syndrome, arthrochalasia type, 2, OMIM:617821;Ehlers-Danlos syndrome, cardiac valvular type, OMIM:225320 28306229;28306225;22892533;18409203;2454224;1712342;9295084;3383844;3049731;11288717;15077201;16816023 False 3 75;25;0 4.8 False ENSG00000164692 ENSG00000164692 HGNC:2198 COL3A1 gene COL3A1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ehlers-Danlos syndrome, vascular type, OMIM:130050;Polymicrogyria with or without vascular-type EDS, OMIM:618343 28306229;28306225;28192633;17211858;2243125;11577371;19455184;21637106;24922459 False 3 75;25;0 4.8 False ENSG00000168542 ENSG00000168542 HGNC:2201 COL5A1 gene COL5A1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome, classic type, 1, OMIM:130000 28306229;28192633;22696272;15264295;9042913;34740257 False 3 75;25;0 4.8 False ENSG00000130635 ENSG00000130635 HGNC:2209 COL5A2 gene COL5A2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome, classic type, 2, OMIM:130010 28306229;28192633;9783710;9425231;9425231 False 3 75;25;0 4.8 False ENSG00000204262 ENSG00000204262 HGNC:2210 COL6A1 gene COL6A1 Expert Review Green;Literature;NHS GMS Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy 1, OMIM:158810;Ullrich congenital muscular dystrophy 1, OMIM:254090 28306229;28306225;8782832;9580662;11865138;12840783;16130093;16130093 False 3 60;40;0 4.8 False ENSG00000142156 ENSG00000142156 HGNC:2211 COL6A2 gene COL6A2 Expert Review Green;Literature;NHS GMS Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy 1,OMIM:158810;Ullrich congenital muscular dystrophy 1, OMIM:254090 28306229;28306225;8782832;11865138;19949035;17886299;11381124;11506412;19564581 False 3 60;40;0 4.8 False ENSG00000142173 ENSG00000142173 HGNC:2212 COL6A3 gene COL6A3 Expert Review Green;Literature;NHS GMS Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy 1, OMIM:158810;Ullrich congenital muscular dystrophy 1, OMIM:254090 28306229;28306225;9536084;17886299;19949035;15563506;11992252;19564581 False 3 75;25;0 4.8 False ENSG00000163359 ENSG00000163359 HGNC:2213 DSE gene DSE Expert Review Green;Literature;NHS GMS Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 2, OMIM:615539 27745832;28306229;28306225;23704329;25703627 False 3 80;20;0 4.8 False ENSG00000111817 ENSG00000111817 HGNC:21144 EFEMP1 gene EFEMP1 Expert Review Green;Literature;NHS GMS Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type ID, OMIM:620780;cutis laxa, MONDO:0016175 32006683;31792352;33807164 False 3 100;0;0 4.8 False ENSG00000115380 ENSG00000115380 HGNC:3218 EFEMP2 gene EFEMP2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IB, OMIM:614437 16685658;17937443;22943132;22943132 False 3 80;20;0 4.8 False ENSG00000172638 ENSG00000172638 HGNC:3219 ELN gene ELN Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cutis laxa, autosomal dominant, OMIM:123700 9580666;9873040;16085695 False 3 75;25;0 4.8 False ENSG00000049540 ENSG00000049540 HGNC:3327 FBLN5 gene FBLN5 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Cutis laxa, autosomal dominant 2, OMIM:614434;Cutis laxa, autosomal recessive, type IA, OMIM:219100 12618961;23328402;22829427;20301756 False 3 75;25;0 4.8 False ENSG00000140092 ENSG00000140092 HGNC:3602 FBN1 gene FBN1 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marfan syndrome, OMIM:154700 False 3 60;40;0 4.8 False ENSG00000166147 ENSG00000166147 HGNC:3603 FBN2 gene FBN2 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Contractural arachnodactyly, congenital, OMIM:121050 9737771;10797416;20799338 False 3 60;40;0 4.8 False ENSG00000138829 ENSG00000138829 HGNC:3604 FKBP14 gene FKBP14 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Other;Radboud University Medical Center, Nijmegen Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, kyphoscoliotic type, 2, OMIM:614557 28306229;28306225;22265013;24773188;24677762;27023906;27149304 False 3 80;20;0 4.8 False ENSG00000106080 ENSG00000106080 HGNC:18625 GORAB gene GORAB Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Other;Radboud University Medical Center, Nijmegen Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Geroderma osteodysplasticum, OMIM:231070 18997784;19681135 False 3 50;17;33 4.8 False ENSG00000120370 ENSG00000120370 HGNC:25676 LOX gene LOX Expert Review;Expert Review Green;NHS GMS;Other Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aortic aneurysm, familial thoracic 10, OMIM:617168 26838787;27432961 False 3 75;25;0 4.8 False ENSG00000113083 ENSG00000113083 HGNC:6664 LTBP2 gene LTBP2 Expert Review Green;Literature;NHS GMS Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal 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 3 50;50;0 4.8 False ENSG00000119681 ENSG00000119681 HGNC:6715 LTBP4 gene LTBP4 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IC, OMIM:613177 26866239;22829427;27339457;25882708 False 3 75;25;0 4.8 False ENSG00000090006 ENSG00000090006 HGNC:6717 PLOD1 gene PLOD1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Other;Radboud University Medical Center, Nijmegen;UKGTN Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, kyphoscoliotic type, 1, OMIM:225400 28306229;28306225;9617436;9220536;15666309;9450904;8163671;25277362 False 3 80;20;0 4.8 False ENSG00000083444 ENSG00000083444 HGNC:9081 PRDM5 gene PRDM5 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Brittle cornea syndrome 2, OMIM:614170 28306229;28306225;23680354 False 3 80;20;0 4.8 False ENSG00000138738 ENSG00000138738 HGNC:9349 PYCR1 gene PYCR1 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIIB, OMIM:614438;Cutis laxa, autosomal recessive, type IIB, OMIM:612940 19648921;4076251;22052856;19576563;19648921;9648921;22052856;28294978 False 3 75;25;0 4.8 False ENSG00000183010 ENSG00000183010 HGNC:9721 RIN2 gene RIN2 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Macrocephaly, alopecia, cutis laxa, and scoliosis, OMIM:613075 19631308;24449201;20424861;27277385 False 3 75;25;0 4.8 False ENSG00000132669 ENSG00000132669 HGNC:18750 ROBO3 gene ROBO3 Expert Review Green;Literature;NHS GMS Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313 15105459; 16525029 False 3 67;33;0 4.8 False ENSG00000154134 ENSG00000154134 HGNC:13433 SKI gene SKI Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Shprintzen-Goldberg syndrome, OMIM:182212 23023332;24736733;24736733 False 3 60;40;0 4.8 False ENSG00000157933 ENSG00000157933 HGNC:10896 SLC39A13 gene SLC39A13 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, spondylodysplastic type, 3, OMIM:612350 18513683;18985159;28306229;28306225 False 3 75;25;0 4.8 False ENSG00000165915 ENSG00000165915 HGNC:20859 SMAD2 gene SMAD2 Expert Review Green;Literature;NHS GMS Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome, MONDO:0018954 26247899;23665959;20301312 False 3 50;25;25 4.8 False ENSG00000175387 ENSG00000175387 HGNC:6768 SMAD3 gene SMAD3 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Loeys-Dietz syndrome 3, OMIM:613795 21217753;21778426;22167769 False 3 60;40;0 4.8 False ENSG00000166949 ENSG00000166949 HGNC:6769 TGFB2 gene TGFB2 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 4, OMIM:614816 22772368;22772371 False 3 75;25;0 4.8 False ENSG00000092969 ENSG00000092969 HGNC:11768 TGFB3 gene TGFB3 Expert Review Green;NHS GMS;Other Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Loeys-Dietz syndrome 5, OMIM:615582 24798638;23824657;25835445 False 3 75;25;0 4.8 False ENSG00000119699 ENSG00000119699 HGNC:11769 TGFBR1 gene TGFBR1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 1, OMIM:609192 False 3 60;40;0 4.8 False ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Loeys-Dietz syndrome 2, OMIM:610168 False 3 80;20;0 4.8 False ENSG00000163513 ENSG00000163513 HGNC:11773 TNXB gene TNXB Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, classic-like, 1, OMIM:606408 28306229;28306225;11642233;15733269;23768946;27582382 False 3 80;20;0 4.8 False ENSG00000168477 ENSG00000168477 HGNC:11976 ZNF469 gene ZNF469 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal BIALLELIC, autosomal or pseudoautosomal Brittle cornea syndrome 1, OMIM:229200 28306229;28306225;23680354 False 3 75;25;0 4.8 False ENSG00000225614 ENSG00000225614 HGNC:23216 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