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
ABCA3	gene	ABCA3	Expert Review Red;GDL Corneal Abnormalities panel	Corneal abnormalities	Anterior segment abnormalities	Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cataract-microcornea syndrome				25406294		False	1	100;0;0	1.14	False		ENSG00000167972	ENSG00000167972	HGNC:33													
APOA1	gene	APOA1	Expert Review Red;Radboud University Medical Center, Nijmegen	Corneal abnormalities	Anterior segment abnormalities	Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Corneal clouding, autosomal recessive;Familial LCAT deficiency				 1898657;22755272;20616715;19515369;17991756;10073988		False	1	0;0;100	1.14	False		ENSG00000118137	ENSG00000118137	HGNC:600													
BEST1	gene	BEST1	Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen	Corneal abnormalities	Anterior segment abnormalities	Ophthalmological disorders		Best Vitelliform Macular Dystrophy  (BVMD), Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC), Additional features include congenital or early-onset cataracts, microcornea, hypermetrophic, and shallow anterior chamber, Autosomal Recessive Bestrophinopathy (ARB);Best macular dystrophy, 153700						False	1	0;0;0	1.14	False		ENSG00000167995	ENSG00000167995	HGNC:12703													
CYP4V2	gene	CYP4V2	Expert Review Red;Illumina TruGenome Clinical Sequencing Services	Corneal abnormalities	Anterior segment abnormalities	Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	"Bietti crystalline corneoretinal dystrophy 	210370"						False	1	0;0;0	1.14	False		ENSG00000145476	ENSG00000145476	HGNC:23198													
GJA8	gene	GJA8	Expert Review Red;Illumina TruGenome Clinical Sequencing Services	Corneal abnormalities	Anterior segment abnormalities	Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cataract-Microcornea Syndrome				16604058;17724170		False	1	0;0;0	1.14	False		ENSG00000121634	ENSG00000121634	HGNC:4281													
GLS	gene	GLS	Expert Review Red;GDL Corneal Abnormalities panel	Corneal abnormalities	Anterior segment abnormalities	Ophthalmological disorders	Unknown	Corneal dystrophy abstract				http://www.arvo.org/webs/am2015/abstract/304.pdf		False	1	0;0;100	1.14	False		ENSG00000115419	ENSG00000115419	HGNC:4331													
LAMB2	gene	LAMB2	Expert Review Red;GDL Corneal Abnormalities panel	Corneal abnormalities	Anterior segment abnormalities	Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	"Pierson syndrome 	609049"				15367484;14136829;16097004		False	1	100;0;0	1.14	False		ENSG00000172037	ENSG00000172037	HGNC:6487													
MED25	gene	MED25	Expert Review Red;GDL Corneal Abnormalities panel	Corneal abnormalities	Anterior segment abnormalities	Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	"Basel-Vanagait-Smirin-Yosef syndrome 	616449"				25792360;25527630		False	1	100;0;0	1.14	False		ENSG00000104973	ENSG00000104973	HGNC:28845													
PAX6	gene	PAX6	Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen	Corneal abnormalities	Anterior segment abnormalities	Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	?Morning glory disc anomaly 120430;Aniridia 106210;Cataract with late-onset corneal dystrohpy 106210;Coloboma of optic nerve 120430;Coloboma ocular 120200;Foveal hypoplasia 1 136520;Gillespie syndrome 206700;Keratitis 148190;Optic nerve hypoplasia 165550;Peters anomaly 604229;Anterior segment dysgenesis 5, multiple subtypes 604229				3234463;4395516;2855731		False	1	0;0;0	1.14	False	Other - please provide details in the comments	ENSG00000007372	ENSG00000007372	HGNC:8620													
PDGFRB	gene	PDGFRB	Literature	Corneal abnormalities	Anterior segment abnormalities	Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown					33450762		False	1	0;0;100	1.14	False		ENSG00000113721	ENSG00000113721	HGNC:8804