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;Royal Melbourne Hospital	Retinitis pigmentosa_Autosomal Recessive/X-linked		Ophthalmological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	syndromic retinitis pigmentosa;non-syndromic autosomal dominant retinitis pigmentosa			Abnormal retinal morphology;HP:0000479	26662040;25736573;30254279;27655171		False	2	0;100;0	0.155	True		ENSG00000159346	ENSG00000159346	HGNC:24040													
AHR	gene	AHR	Expert Review Amber;Royal Melbourne Hospital	Retinitis pigmentosa_Autosomal Recessive/X-linked		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	?Retinitis pigmentosa 85			Abnormal retinal morphology;HP:0000479	29726989		False	2	0;100;0	0.155	True		ENSG00000106546	ENSG00000106546	HGNC:348													
ARL6	gene	ARL6	Expert Review Amber;Royal Melbourne Hospital	Retinitis pigmentosa_Autosomal Recessive/X-linked		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Retinitis pigmentosa 55, 613575;Bardet-Biedl syndrome 3, 209900			Abnormal retinal morphology;HP:0000479			False	2	0;100;0	0.155	False		ENSG00000113966	ENSG00000113966	HGNC:13210													
CEP162	gene	CEP162	Expert Review Amber;Literature	Retinitis pigmentosa_Autosomal Recessive/X-linked		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Retinitis pigmentosa MONDO:0019200, CEP162-related			Abnormal retinal morphology;HP:0000479	36862503		False	2	0;100;0	0.155	True		ENSG00000135315	ENSG00000135315	HGNC:21107													
CLCC1	gene	CLCC1	Expert Review Amber;Royal Melbourne Hospital	Retinitis pigmentosa_Autosomal Recessive/X-linked		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Retinitis pigmentosa 32, MIM# 609913			Abnormal retinal morphology;HP:0000479	30157172		False	2	0;100;0	0.155	True		ENSG00000121940	ENSG00000121940	HGNC:29675													
CRB2	gene	CRB2	Expert Review;Expert Review Amber	Retinitis pigmentosa_Autosomal Recessive/X-linked		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Retinitis pigmentosa			Abnormal retinal morphology;HP:0000479	30593785;31438467;33575434;30239717		False	2	0;100;0	0.155	True		ENSG00000148204	ENSG00000148204	HGNC:18688													
DHX38	gene	DHX38	Expert Review Amber;Royal Melbourne Hospital	Retinitis pigmentosa_Autosomal Recessive/X-linked		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Retinitis pigmentosa 84, MIM#618220			Abnormal retinal morphology;HP:0000479	24737827;30208423		False	2	0;100;0	0.155	True		ENSG00000140829	ENSG00000140829	HGNC:17211													
EMC1	gene	EMC1	Expert Review Amber;Royal Melbourne Hospital	Retinitis pigmentosa_Autosomal Recessive/X-linked		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	?Retinitis pigmentosa;Cerebellar atrophy, visual impairment, and psychomotor retardation			Abnormal retinal morphology;HP:0000479	29271071;23105016		False	2	0;100;0	0.155	False		ENSG00000127463	ENSG00000127463	HGNC:28957													
GDF6	gene	GDF6	Expert list;Expert Review Amber	Retinitis pigmentosa_Autosomal Recessive/X-linked		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Leber congenital amaurosis 17 MIM#615360			Abnormal retinal morphology;HP:0000479	23307924		False	2	0;100;0	0.155	True		ENSG00000156466	ENSG00000156466	HGNC:4221													
IMPG1	gene	IMPG1	Expert Review Amber;Literature	Retinitis pigmentosa_Autosomal Recessive/X-linked		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	"Retinitis pigmentosa, MONDO:0019200;Retinitis pigmentosa 91, MIM#	153870"			Abnormal retinal morphology;HP:0000479	32817297		False	2	0;100;0	0.155	True		ENSG00000112706	ENSG00000112706	HGNC:6055													
MVK	gene	MVK	Expert Review Amber;Royal Melbourne Hospital	Retinitis pigmentosa_Autosomal Recessive/X-linked		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Mevalonic aciduria;Hyper-IgD syndrome			Abnormal retinal morphology;HP:0000479			False	2	0;100;0	0.155	False		ENSG00000110921	ENSG00000110921	HGNC:7530													
NEK2	gene	NEK2	Expert Review Amber;Royal Melbourne Hospital	Retinitis pigmentosa_Autosomal Recessive/X-linked		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	?Retinitis pigmentosa 67, 615565			Abnormal retinal morphology;HP:0000479	24043777		False	2	0;100;0	0.155	False		ENSG00000117650	ENSG00000117650	HGNC:7745													
PDE6G	gene	PDE6G	Expert Review Amber;Royal Melbourne Hospital	Retinitis pigmentosa_Autosomal Recessive/X-linked		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Retinitis pigmentosa 57, MIM#613582			Abnormal retinal morphology;HP:0000479	20655036		False	2	0;100;0	0.155	True		ENSG00000185527	ENSG00000185527	HGNC:8789													
SAG	gene	SAG	Expert Review Amber;Royal Melbourne Hospital	Retinitis pigmentosa_Autosomal Recessive/X-linked		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Retinitis pigmentosa 47, MIM# 613758			Abnormal retinal morphology;HP:0000479	28549094;33047631		False	2	0;100;0	0.155	True		ENSG00000130561	ENSG00000130561	HGNC:10521													
SEMA4A	gene	SEMA4A	Expert Review Amber;Royal Melbourne Hospital	Retinitis pigmentosa_Autosomal Recessive/X-linked		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Cone-rod dystrophy 10, 610283;Retinitis pigmentosa 35, 610282			Abnormal retinal morphology;HP:0000479	16199541;28805479;23360997;15277503		False	2	0;100;0	0.155	True		ENSG00000196189	ENSG00000196189	HGNC:10729													
SLC4A7	gene	SLC4A7	Expert Review Amber;Literature	Retinitis pigmentosa_Autosomal Recessive/X-linked		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Retinitis pigmentosa, MONDO:0019200, SLC4A7-related			Abnormal retinal morphology;HP:0000479	PMID: 35486108, 32594822		False	2	0;100;0	0.155	True		ENSG00000033867	ENSG00000033867	HGNC:11033													
ZNF513	gene	ZNF513	Expert Review Amber;Royal Melbourne Hospital	Retinitis pigmentosa_Autosomal Recessive/X-linked		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Retinitis pigmentosa 58, 613617			Abnormal retinal morphology;HP:0000479			False	2	0;100;0	0.155	False		ENSG00000163795	ENSG00000163795	HGNC:26498