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
ATOH7	gene	ATOH7	Expert Review Green;Victorian Clinical Genetics Services	Vitreoretinopathy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900;microphthalmia;cataract;glaucoma;congenital retinal nonattachment			Abnormal posterior eye segment morphology;HP:0004329	22068589;22645276;31696227;11493566;11493566		False	3	100;0;0	1.5	True		ENSG00000179774	ENSG00000179774	HGNC:13907													
BEST1	gene	BEST1	Expert Review Green;Victorian Clinical Genetics Services	Vitreoretinopathy		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Vitreoretinochoroidopathy, MIM# 193220			Abnormal posterior eye segment morphology;HP:0004329			False	3	100;0;0	1.5	True		ENSG00000167995	ENSG00000167995	HGNC:12703													
CAPN5	gene	CAPN5	Expert Review Green;Victorian Clinical Genetics Services	Vitreoretinopathy		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Vitreoretinopathy, neovascular inflammatory, MIM# 193235			Abnormal posterior eye segment morphology;HP:0004329	23055945;32274441;31110225;30986125		False	3	100;0;0	1.5	True		ENSG00000149260	ENSG00000149260	HGNC:1482													
COL18A1	gene	COL18A1	Expert Review Green;Victorian Clinical Genetics Services	Vitreoretinopathy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Knobloch syndrome, type 1, MIM# 267750			Abnormal posterior eye segment morphology;HP:0004329	27259167;25456301		False	3	100;0;0	1.5	True		ENSG00000182871	ENSG00000182871	HGNC:2195													
CTNNA1	gene	CTNNA1	Expert Review Green;Literature	Vitreoretinopathy		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Familial exudative vitreoretinopathy			Abnormal posterior eye segment morphology;HP:0004329	33497368		False	3	100;0;0	1.5	True		ENSG00000044115	ENSG00000044115	HGNC:2509													
CTNNB1	gene	CTNNB1	Expert Review Green;Victorian Clinical Genetics Services	Vitreoretinopathy		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Exudative vitreoretinopathy 7, MIM# 617572;Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075			Abnormal posterior eye segment morphology;HP:0004329	28575650;33350591;32039639		False	3	100;0;0	1.5	True		ENSG00000168036	ENSG00000168036	HGNC:2514													
FZD4	gene	FZD4	Expert Review Green;Victorian Clinical Genetics Services	Vitreoretinopathy		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Exudative vitreoretinopathy 1, MIM# 133780			Abnormal posterior eye segment morphology;HP:0004329	21097938;33302760;31999491		False	3	100;0;0	1.5	True		ENSG00000174804	ENSG00000174804	HGNC:4042													
KIF11	gene	KIF11	Expert Review Green;Victorian Clinical Genetics Services	Vitreoretinopathy		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, MIM# 152950			Abnormal posterior eye segment morphology;HP:0004329	22284827		False	3	100;0;0	1.5	True		ENSG00000138160	ENSG00000138160	HGNC:6388													
LRP5	gene	LRP5	Expert Review Green;Victorian Clinical Genetics Services	Vitreoretinopathy		Ophthalmological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Exudative vitreoretinopathy 4, MIM# 601813			Abnormal posterior eye segment morphology;HP:0004329			False	3	100;0;0	1.5	True		ENSG00000162337	ENSG00000162337	HGNC:6697													
NDP	gene	NDP	Expert Review Green;Victorian Clinical Genetics Services	Vitreoretinopathy		Ophthalmological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Exudative vitreoretinopathy 2, X-linked, MIM# 305390;Norrie disease, MIM# 310600			Abnormal posterior eye segment morphology;HP:0004329			False	3	100;0;0	1.5	True		ENSG00000124479	ENSG00000124479	HGNC:7678													
NR2E3	gene	NR2E3	Expert Review Green;Victorian Clinical Genetics Services	Vitreoretinopathy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Enhanced S-cone syndrome, MIM# 268100			Abnormal posterior eye segment morphology;HP:0004329	10655056;11071390;18294254		False	3	100;0;0	1.5	True		ENSG00000031544	ENSG00000278570	HGNC:7974													
P3H2	gene	P3H2	Expert list;Expert Review Green	Vitreoretinopathy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Myopia, high, with cataract and vitreoretinal degeneration MIM#614292			Abnormal posterior eye segment morphology;HP:0004329	21885030;24172257;25469533		False	3	100;0;0	1.5	True		ENSG00000090530	ENSG00000090530	HGNC:19317													
TSPAN12	gene	TSPAN12	Expert Review Green;Victorian Clinical Genetics Services	Vitreoretinopathy		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Exudative vitreoretinopathy 5, MIM# 613310			Abnormal posterior eye segment morphology;HP:0004329	20159111;20159112;21334594		False	3	100;0;0	1.5	True		ENSG00000106025	ENSG00000106025	HGNC:21641													
VCAN	gene	VCAN	Expert Review Green;Victorian Clinical Genetics Services	Vitreoretinopathy		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Wagner syndrome 1, MIM# 143200			Abnormal posterior eye segment morphology;HP:0004329	16877430;22739342;16636652;16043844;32854301;30657523;30055036;29071374;27667122		False	3	100;0;0	1.5	True		ENSG00000038427	ENSG00000038427	HGNC:2464													
ZNF408	gene	ZNF408	Expert Review Green;Victorian Clinical Genetics Services	Vitreoretinopathy		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Exudative vitreoretinopathy 6, MIM# 616468			Abnormal posterior eye segment morphology;HP:0004329	23716654;32530348;32097476;32238352;30998249;29982478		False	3	100;0;0	1.5	True		ENSG00000175213	ENSG00000175213	HGNC:20041