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
ADIPOR1	gene	ADIPOR1	Expert Review Amber;RetNet;Royal Melbourne Hospital	Syndromic Retinopathy		Ophthalmological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	syndromic retinitis pigmentosa;non-syndromic autosomal dominant retinitis pigmentosa			Retinopathy;HP:0000488	27655171;26662040		False	2	0;100;0	0.219	True		ENSG00000159346	ENSG00000159346	HGNC:24040													
AGPAT3	gene	AGPAT3	Expert Review Amber;Literature	Syndromic Retinopathy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related			Retinopathy;HP:0000488	37821758		False	2	100;0;0	0.219	True		ENSG00000160216	ENSG00000160216	HGNC:326													
ARMC9	gene	ARMC9	Expert list;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services	Syndromic Retinopathy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 30 MIM#617622			Retinopathy;HP:0000488	28625504		False	2	67;33;0	0.219	True		ENSG00000135931	ENSG00000135931	HGNC:20730													
HACE1	gene	HACE1	Expert list;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services	Syndromic Retinopathy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756			Retinopathy;HP:0000488	26424145		False	2	50;50;0	0.219	True		ENSG00000085382	ENSG00000085382	HGNC:21033													
HBS1L	gene	HBS1L	Expert Review Amber;Literature	Syndromic Retinopathy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Retinal disorder MONDO:0005283			Retinopathy;HP:0000488	38966981;24288412;30707697		False	2	0;100;0	0.219	True		ENSG00000112339	ENSG00000112339	HGNC:4834													
IFT81	gene	IFT81	Expert Review Amber;RetNet	Syndromic Retinopathy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895			Retinopathy;HP:0000488	28460050;26275418;27666822;32783357		False	2	0;100;0	0.219	True		ENSG00000122970	ENSG00000122970	HGNC:14313													
INVS	gene	INVS	Expert Review Amber;RetNet	Syndromic Retinopathy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 2, infantile, MIM#602088			Retinopathy;HP:0000488	16522655		False	2	50;50;0	0.219	True		ENSG00000119509	ENSG00000119509	HGNC:17870													
LRRC32	gene	LRRC32	Expert Review Amber;Literature	Syndromic Retinopathy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074			Retinopathy;HP:0000488	30976112		False	2	0;100;0	0.219	True		ENSG00000137507	ENSG00000137507	HGNC:4161													
MFN2	gene	MFN2	Expert Review Amber;RetNet	Syndromic Retinopathy		Ophthalmological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, axonal, type 2A2A, MIM# 609260;Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087			Retinopathy;HP:0000488	30922813;28487236;21707411;22957060		False	2	0;100;0	0.219	True		ENSG00000116688	ENSG00000116688	HGNC:16877													
MPDZ	gene	MPDZ	Expert Review Amber;Literature	Syndromic Retinopathy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM:615219			Retinopathy;HP:0000488	36594712;22159006;21862650		False	2	0;100;0	0.219	True		ENSG00000107186	ENSG00000107186	HGNC:7208													
PEX26	gene	PEX26	Expert list;Expert Review Amber	Syndromic Retinopathy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872;Peroxisome biogenesis disorder 7B MIM#614873			Retinopathy;HP:0000488	28944237		False	2	50;50;0	0.219	True		ENSG00000215193	ENSG00000215193	HGNC:22965													
POC5	gene	POC5	Expert Review Amber;RetNet	Syndromic Retinopathy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	retinitis pigmentosa;short stature;microcephaly;recurrent glomerulonephritis			Retinopathy;HP:0000488	29272404		False	2	0;100;0	0.219	True		ENSG00000152359	ENSG00000152359	HGNC:26658													
RDH11	gene	RDH11	Expert Review Amber;RetNet	Syndromic Retinopathy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108			Retinopathy;HP:0000488	24916380;15634683;30731079;18326732;34988992		False	2	0;50;50	0.219	True		ENSG00000072042	ENSG00000072042	HGNC:17964													
TMEM107	gene	TMEM107	Expert list;Expert Review;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services	Syndromic Retinopathy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 29 MIM#617562;Orofaciodigital syndrome XVI MIM#617563			Retinopathy;HP:0000488	26595381		False	2	33;67;0	0.219	True		ENSG00000179029	ENSG00000179029	HGNC:28128													
TUB	gene	TUB	Expert Review Amber;RetNet	Syndromic Retinopathy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Retinal dystrophy and obesity, MIM# 616188			Retinopathy;HP:0000488	24375934;28852204		False	2	0;100;0	0.219	True		ENSG00000166402	ENSG00000166402	HGNC:12406