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
COL11A1	gene	COL11A1	Expert Review Green;Victorian Clinical Genetics Services	Stickler Syndrome		Ophthalmological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Stickler syndrome, type II, MIM# 604841, MONDO:0011493			Myopia;HP:0000545; Retinal detachment;HP:0000541; Cleft palate;HP:0000175	32578940		False	3	100;0;0	1.9	True		ENSG00000060718	ENSG00000060718	HGNC:2186													
COL11A2	gene	COL11A2	Expert Review Green;Victorian Clinical Genetics Services	Stickler Syndrome		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Stickler syndrome type 3			Myopia;HP:0000545; Retinal detachment;HP:0000541; Cleft palate;HP:0000175	25240749;22796475;20112039		False	3	100;0;0	1.9	True		ENSG00000204248	ENSG00000204248	HGNC:2187													
COL2A1	gene	COL2A1	Expert Review Green;Victorian Clinical Genetics Services	Stickler Syndrome		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Stickler syndrome, type I, MIM# 108300			Myopia;HP:0000545; Retinal detachment;HP:0000541; Cleft palate;HP:0000175			False	3	100;0;0	1.9	True		ENSG00000139219	ENSG00000139219	HGNC:2200													
COL9A1	gene	COL9A1	Expert Review Green;Victorian Clinical Genetics Services	Stickler Syndrome		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Stickler syndrome, type IV, MIM# 614134			Myopia;HP:0000545; Retinal detachment;HP:0000541; Cleft palate;HP:0000175	16909383;21421862;31090205		False	3	100;0;0	1.9	True		ENSG00000112280	ENSG00000112280	HGNC:2217													
COL9A2	gene	COL9A2	Expert Review Green;Victorian Clinical Genetics Services	Stickler Syndrome		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Stickler syndrome, type V, MIM# 614284			Myopia;HP:0000545; Retinal detachment;HP:0000541; Cleft palate;HP:0000175	21671392;31090205;33356723		False	3	100;0;0	1.9	True		ENSG00000049089	ENSG00000049089	HGNC:2218													
COL9A3	gene	COL9A3	Expert Review Green;Other	Stickler Syndrome		Ophthalmological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Stickler syndrome, type VI, MIM# 620022;Deafness, AD;Peripheral vitreoretinal degeneration and retinal detachment, AD			Myopia;HP:0000545; Retinal detachment;HP:0000541; Cleft palate;HP:0000175	31090205;30450842;20301479;24273071;33633367		False	3	100;0;0	1.9	True		ENSG00000092758	ENSG00000092758	HGNC:2219													
GZF1	gene	GZF1	Expert Review Green;Victorian Clinical Genetics Services	Stickler Syndrome		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Joint laxity, short stature, and myopia, MIM# 617662			Myopia;HP:0000545; Retinal detachment;HP:0000541; Cleft palate;HP:0000175	33009817;28475863		False	3	100;0;0	1.9	True		ENSG00000125812	ENSG00000125812	HGNC:15808													
PLOD3	gene	PLOD3	Expert Review Green;Literature	Stickler Syndrome		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Stickler-like phenotype with high myopia, midface hypoplasia, microretrognathia			Myopia;HP:0000545; Retinal detachment;HP:0000541; Cleft palate;HP:0000175	18834968;30237576;30463024;31129566		False	3	100;0;0	1.9	True		ENSG00000106397	ENSG00000106397	HGNC:9083													
LOXL3	gene	LOXL3	Expert list;Expert Review Amber	Stickler Syndrome		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Stickler syndrome			Myopia;HP:0000545; Retinal detachment;HP:0000541; Cleft palate;HP:0000175	30362103;25663169		False	2	0;100;0	1.9	True		ENSG00000115318	ENSG00000115318	HGNC:13869													
SLC29A3	gene	SLC29A3	Expert list;Expert Review Amber;Literature	Stickler Syndrome		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Histiocytosis-lymphadenopathy plus syndrome - MIM#602782			Myopia;HP:0000545; Retinal detachment;HP:0000541; Cleft palate;HP:0000175			False	2	50;50;0	1.9	True		ENSG00000198246	ENSG00000198246	HGNC:23096