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
COL9A2	gene	COL9A2	Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Multiple Epiphyseal Dysplasia	Skeletal dysplasias	Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epiphyseal dysplasia, multiple, 2, OMIM:600204				20358595;21922596;20301302		False	3	100;0;0	1.7	True		ENSG00000049089	ENSG00000049089	HGNC:2218													
COL9A3	gene	COL9A3	Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services	Multiple Epiphyseal Dysplasia	Skeletal dysplasias	Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969				21922596;20301302;20301479		False	3	100;0;0	1.7	True		ENSG00000092758	ENSG00000092758	HGNC:2219													
COMP	gene	COMP	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services	Multiple Epiphyseal Dysplasia	Skeletal dysplasias	Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	multiple epiphyseal dysplasia, pseudoachondroplasia;Multiple Epiphyseal Dysplasia, Dominant;Epiphyseal dysplasia, multiple, 1				PMID: 24595329;17133256		False	3	100;0;0	1.7	True		ENSG00000105664	ENSG00000105664	HGNC:2227													
MATN3	gene	MATN3	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Multiple Epiphyseal Dysplasia	Skeletal dysplasias	Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	multiple epiphyseal dysplasia;Multiple Epiphyseal Dysplasia, Dominant;Epiphyseal dysplasia, multiple, 5, 607078				PMID: 21922596;20301302;20358595		False	3	100;0;0	1.7	True		ENSG00000132031	ENSG00000132031	HGNC:6909													
SLC26A2	gene	SLC26A2	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services	Multiple Epiphyseal Dysplasia	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	multiple epiphyseal dysplasia;Multiple Epiphyseal Dysplasia, Recessive;Epiphyseal dysplasia, multiple, 4				PMID: 21922596		False	3	100;0;0	1.7	True		ENSG00000155850	ENSG00000155850	HGNC:10994													
CHST3	gene	CHST3	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Multiple Epiphyseal Dysplasia	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095;Spondyloepiphyseal Dysplasia						False	1	0;0;100	1.7	True		ENSG00000122863	ENSG00000122863	HGNC:1971													
COL11A2	gene	COL11A2	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Multiple Epiphyseal Dysplasia	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Stickler syndrome, type III, 184840;Otospondylomegaepiphyseal dysplasia, 215150;Weissenbacher-Zweymuller syndrome, 277610;Deafness, autosomal dominant 13, 601868;Deafness, autosomal recessive 53, 609706;Fibrochondrogenesis 2, 614524;Otospondylomegaepiphyseal Dysplasia						False	1	0;0;100	1.7	True		ENSG00000204248	ENSG00000204248	HGNC:2187													
COL2A1	gene	COL2A1	Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN	Multiple Epiphyseal Dysplasia	Skeletal dysplasias	Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Multiple epiphyseal dysplasiais;Stickler syndrome, type I, 108300;Kniest dysplasia, 156550;Achondrogenesis, type II or hypochondrogenesis, 200610;SED congenita, 183900;SMED Strudwick type, 184250;Epiphyseal dysplasia, multiple, with myopia and deafness, 132450;Spondyloperipheral dysplasia, 271700;SED, Namaqualand type;Osteoarthritis with mild chondrodysplasia, 604864;Vitreoretinopathy with phalangeal epiphyseal dysplasia;Platyspondylic skeletal dysplasia, Torrance type, 151210;Otospondylomegaepiphyseal dysplasia, 215150;Avascular necrosis of the femoral head, 608805;Legg-Calve-Perthes disease, 150600;Stickler sydrome, type I, nonsyndromic ocular, 609508;Czech dysplasia, 609162				PMID: 21922596		False	1	0;0;100	1.7	True		ENSG00000139219	ENSG00000139219	HGNC:2200													
COL9A1	gene	COL9A1	Emory Genetics Laboratory;Expert;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Multiple Epiphyseal Dysplasia	Skeletal dysplasias	Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	multiple epiphyseal dysplasia;Multiple Epiphyseal Dysplasia, Dominant;Epiphyseal dysplasia, multiple, 6, 614135;Stickler syndrome, type IV, 614134				PMID: 11565064;PMID: 21922596 (no mutations found);PMID: 15523498 (no mutations found);PMID: 14684695 (no mutations found);PMID: 10678658 (no mutations found);PMID: 20358595 (no mutations found);PMID: 16691584 (no mutations found)		False	1	100;0;0	1.7	True	Other - please provide details in the comments	ENSG00000112280	ENSG00000112280	HGNC:2217													
EIF2AK3	gene	EIF2AK3	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;UKGTN	Multiple Epiphyseal Dysplasia	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus;Wolcott-Rallison syndrome						False	1	0;0;100	1.7	True		ENSG00000172071	ENSG00000172071	HGNC:3255													
TRAPPC2	gene	TRAPPC2	Expert Review Red;Illumina TruGenome Clinical Sequencing Services	Multiple Epiphyseal Dysplasia	Skeletal dysplasias	Skeletal disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Spondyloepiphyseal Dysplasia;Spondyloepiphyseal dysplasia tarda						False	1	0;0;100	1.7	True		ENSG00000196459	ENSG00000196459	HGNC:23068