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
COL4A1	gene	COL4A1	Expert Review Amber;Victorian Clinical Genetics Services	Glaucoma congenital		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Brain small vessel disease with or without ocular anomalies, MIM# 175780			Glaucoma;HP:0000501			False	2	0;100;0	1.9	True		ENSG00000187498	ENSG00000187498	HGNC:2202													
EP300	gene	EP300	Expert Review Amber;Victorian Clinical Genetics Services	Glaucoma congenital		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Rubinstein-Taybi syndrome 2, MIM# 613684			Glaucoma;HP:0000501			False	2	0;100;0	1.9	True		ENSG00000100393	ENSG00000100393	HGNC:3373													
FBN1	gene	FBN1	Expert Review Amber;Victorian Clinical Genetics Services	Glaucoma congenital		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Weill-Marchesani syndrome 2, dominant, MIM# 608328			Glaucoma;HP:0000501	23897642;12525539		False	2	0;100;0	1.9	True		ENSG00000166147	ENSG00000166147	HGNC:3603													
FOXE3	gene	FOXE3	Expert list;Expert Review Amber	Glaucoma congenital		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	"Anterior segment dysgenesis 2, multiple subtypes, MIM#	610256"			Glaucoma;HP:0000501	27218149		False	2	0;100;0	1.9	True		ENSG00000186790	ENSG00000186790	HGNC:3808													
MFRP	gene	MFRP	Expert Review Amber;Victorian Clinical Genetics Services	Glaucoma congenital		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Microphthalmia, isolated 5, MIM# 611040			Glaucoma;HP:0000501			False	2	0;100;0	1.9	True		ENSG00000235718	ENSG00000235718	HGNC:18121