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
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