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
AFG3L2	gene	AFG3L2	Expert list;Expert Review Red;RetNet;Victorian Clinical Genetics Services	Syndromic Retinopathy		Ophthalmological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Spastic ataxia 5, autosomal recessive (MIM#614487);Spinocerebellar ataxia 28 (MIM#610246);Optic atrophy 12, MIM# 618977			Retinopathy;HP:0000488	29181157;26539208;30252181;30389403;32219868;32600459;32548275		False	1	50;0;50	0.259	True		ENSG00000141385	ENSG00000141385	HGNC:315													
DTHD1	gene	DTHD1	Expert list	Syndromic Retinopathy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Leber congenital amaurosis with muscle dystrophy			Retinopathy;HP:0000488	23105016		False	1	0;0;100	0.259	False		ENSG00000197057	ENSG00000197057	HGNC:37261													
ELOVL4	gene	ELOVL4	Expert Review Red;RetNet	Syndromic Retinopathy		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110;Stargardt disease 3, 600110;Ichthyosis, spastic quadriplegia, and mental retardation, 614457			Retinopathy;HP:0000488			False	1	0;0;100	0.259	True		ENSG00000118402	ENSG00000118402	HGNC:14415													
HARS	gene	HARS	Expert Review Red;RetNet;Victorian Clinical Genetics Services	Syndromic Retinopathy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Usher syndrome type 3B			Retinopathy;HP:0000488			False	1	50;0;50	0.259	False		ENSG00000170445	ENSG00000170445	HGNC:4816													
PAK2	gene	PAK2	Literature	Syndromic Retinopathy		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Knobloch syndrome 2 MIM#618458			Retinopathy;HP:0000488	PMID: 38894571		False	1	100;0;0	0.259	False		ENSG00000180370	ENSG00000180370	HGNC:8591													
PISD	gene	PISD	Expert list;Expert Review Green;Victorian Clinical Genetics Services	Syndromic Retinopathy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	"Liberfarb syndrome	MIM#618889"			Retinopathy;HP:0000488	31263216		False	1	50;0;50	0.259	False		ENSG00000241878	ENSG00000241878	HGNC:8999													
ZNF423	gene	ZNF423	Expert Review Red;RetNet;Royal Melbourne Hospital	Syndromic Retinopathy		Ophthalmological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Joubert syndrome 19 (MIM#614844)			Retinopathy;HP:0000488	22863007;33531950		False	1	0;33;67	0.259	True		ENSG00000102935	ENSG00000102935	HGNC:16762