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
BMP4	gene	BMP4	Expert list;Expert Review Green;NHS GMS	Stickler syndrome		Ophthalmology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Stickler syndrome, MONDO:0019354				30568244;35022715;34926457		False	3	50;50;0	4.5	False		ENSG00000125378	ENSG00000125378	HGNC:1071													
COL11A1	gene	COL11A1	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen	Stickler syndrome		Ophthalmology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Stickler syndrome, type II, OMIM:604841;Marshall syndrome, OMIM:154780				10573014;23922384;20513134;8872475		False	3	100;0;0	4.5	True		ENSG00000060718	ENSG00000060718	HGNC:2186													
COL11A2	gene	COL11A2	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Stickler syndrome		Ophthalmology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Otospondylomegaepiphyseal dysplasia, autosomal dominant, OMIM:184840;Otospondylomegaepiphyseal dysplasia, autosomal recessive, OMIM:215150						False	3	100;0;0	4.5	True		ENSG00000204248	ENSG00000204248	HGNC:2187													
COL2A1	gene	COL2A1	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Stickler syndrome		Ophthalmology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Stickler syndrome, type I, OMIM:108300				16752401;20513134		False	3	0;0;0	4.5	True		ENSG00000139219	ENSG00000139219	HGNC:2200													
COL9A1	gene	COL9A1	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Stickler syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Stickler syndrome, type IV, OMIM:614134						False	3	100;0;0	4.5	True		ENSG00000112280	ENSG00000112280	HGNC:2217													
COL9A2	gene	COL9A2	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Stickler syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Stickler syndrome, type V, OMIM:614284				21671392		False	3	100;0;0	4.5	True		ENSG00000049089	ENSG00000049089	HGNC:2218													
COL9A3	gene	COL9A3	Expert Review;Expert Review Green	Stickler syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Stickler syndrome, MONDO:0019354				24273071 and unpublished observation;30450842;33633367		False	3	67;33;0	4.5	True		ENSG00000092758	ENSG00000092758	HGNC:2219													
GZF1	gene	GZF1	Expert Review Green;Literature	Stickler syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Larsen syndrome, MONDO:0007875				28475863		False	3	100;0;0	4.5	False		ENSG00000125812	ENSG00000125812	HGNC:15808													
VCAN	gene	VCAN	Expert Review;Expert Review Green;NHS GMS	Stickler syndrome		Ophthalmology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Ocular-only Stickler syndrome;Wagner syndrome 1, OMIM:143200				12208278;10729292;11812423		False	3	100;0;0	4.5	False	Other	ENSG00000038427	ENSG00000038427	HGNC:2464													
LOXL3	gene	LOXL3	Expert Review;Expert Review Amber	Stickler syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Stickler syndrome, MONDO:0019354				25663169;30362103		False	2	0;100;0	4.5	True		ENSG00000115318	ENSG00000115318	HGNC:13869													
LRP2	gene	LRP2	Expert list;Expert Review Red	Stickler syndrome		Ophthalmology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Stickler syndrome, MONDO:0019354				23992033		False	1	0;50;50	4.5	False		ENSG00000081479	ENSG00000081479	HGNC:6694