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
ABHD12	gene	ABHD12	Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Usher Syndrome		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857;Usher syndrome type 3			Usher syndrome;MONDO:0019501	20797687;24697911		False	3	100;0;0	1.5	True		ENSG00000100997	ENSG00000100997	HGNC:15868													
ADGRV1	gene	ADGRV1	Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Usher Syndrome		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Usher syndrome,  type 2C, MIM# 605472			Usher syndrome;MONDO:0019501	22147658;25572244;14740321		False	3	100;0;0	1.5	True		ENSG00000164199	ENSG00000164199	HGNC:17416													
ARSG	gene	ARSG	Expert Review Green;Royal Melbourne Hospital	Usher Syndrome		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Usher syndrome, type IV, 618144			Usher syndrome;MONDO:0019501	29300381;20679209;25452429;26975023;33300174;32455177		False	3	50;0;50	1.5	True		ENSG00000141337	ENSG00000141337	HGNC:24102													
CDH23	gene	CDH23	Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Usher Syndrome		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Usher syndrome, type 1D 601067;Usher syndrome, type 1D/F digenic 601067			Usher syndrome;MONDO:0019501	11138009;25468891;21940737		False	3	100;0;0	1.5	True		ENSG00000107736	ENSG00000107736	HGNC:13733													
CEP250	gene	CEP250	Expert Review Green;Royal Melbourne Hospital	Usher Syndrome		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Usher-like disease;Cone-rod dystrophy and hearing loss 2, 618358			Usher syndrome;MONDO:0019501	24780881;29718797;30459346		False	3	100;0;0	1.5	True		ENSG00000126001	ENSG00000126001	HGNC:1859													
CEP78	gene	CEP78	Expert list;Expert Review Green;Royal Melbourne Hospital	Usher Syndrome		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Cone-Rod Dystrophy and Hearing Loss, 617236			Usher syndrome;MONDO:0019501	28005958;27588451;27588452;27627988		False	3	100;0;0	1.5	True		ENSG00000148019	ENSG00000148019	HGNC:25740													
CLRN1	gene	CLRN1	Expert Review Green;Royal Melbourne Hospital	Usher Syndrome		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Usher syndrome, type 3A, 276902;Retinitis pigmentosa 61, 614180			Usher syndrome;MONDO:0019501	11524702;24596593;22135276;21675857;19753315;27110679;26943149;22787034		False	3	100;0;0	1.5	True		ENSG00000163646	ENSG00000163646	HGNC:12605													
MYO7A	gene	MYO7A	Expert Review Green;Royal Melbourne Hospital	Usher Syndrome		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Usher syndrome, type 1B, 276900			Usher syndrome;MONDO:0019501	23559863;18181211;25211151;11391666		False	3	100;0;0	1.5	True		ENSG00000137474	ENSG00000137474	HGNC:7606													
PCDH15	gene	PCDH15	Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Usher Syndrome		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Usher syndrome Type 1F;Usher syndrome, type 1D/F digenic			Usher syndrome;MONDO:0019501	11398101;11487575;11138007;12782354;16260500;14570705;25930172;28281779		False	3	100;0;0	1.5	True		ENSG00000150275	ENSG00000150275	HGNC:14674													
PEX1	gene	PEX1	Expert Review Green;Royal Melbourne Hospital	Usher Syndrome		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Heimler syndrome 1, 234580			Usher syndrome;MONDO:0019501	32596134;31831025;27872819;27633571;27302843		False	3	100;0;0	1.5	True		ENSG00000127980	ENSG00000127980	HGNC:8850													
PEX26	gene	PEX26	Expert Review;Expert Review Green	Usher Syndrome		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Heimler syndrome			Usher syndrome;MONDO:0019501	28944237;33926089;28944237		False	3	100;0;0	1.5	True		ENSG00000215193	ENSG00000215193	HGNC:22965													
PEX6	gene	PEX6	Expert Review Green;Royal Melbourne Hospital	Usher Syndrome		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Heimler syndrome 2, 616617			Usher syndrome;MONDO:0019501	27302843;32866347;31884617;29676688;26387595		False	3	100;0;0	1.5	True		ENSG00000124587	ENSG00000124587	HGNC:8859													
USH1C	gene	USH1C	Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Usher Syndrome		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Usher syndrome, type 1C, 276904			Usher syndrome;MONDO:0019501	10973247;10973248;11239869;21203349;12107438		False	3	100;0;0	1.5	True		ENSG00000006611	ENSG00000006611	HGNC:12597													
USH1G	gene	USH1G	Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Usher Syndrome		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Usher syndrome, type 1G, 606943			Usher syndrome;MONDO:0019501			False	3	100;0;0	1.5	True		ENSG00000182040	ENSG00000182040	HGNC:16356													
USH2A	gene	USH2A	Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Usher Syndrome		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Usher syndrome, type 2A, 276901;Retinitis pigmentosa 39, 613809			Usher syndrome;MONDO:0019501	26927203;22135276		False	3	100;0;0	1.5	True		ENSG00000042781	ENSG00000042781	HGNC:12601													
WHRN	gene	WHRN	Expert Review Green;Royal Melbourne Hospital	Usher Syndrome		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Usher syndrome, type 2D, 611383			Usher syndrome;MONDO:0019501	17171570;21738389;22147658;26338283;12833159;20502675;28254438;27117407;12833159;29270100;15841483		False	3	100;0;0	1.5	True		ENSG00000095397	ENSG00000095397	HGNC:16361													
PDZD7	gene	PDZD7	Expert Review Amber;Melbourne Genomics Health Alliance Deafness Flagship;Royal Melbourne Hospital;Victorian Clinical Genetics Services	Usher Syndrome		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472			Usher syndrome;MONDO:0019501	20440071;19028668;26416264;26849169;27068579;26445815;28173822;24334608		False	2	0;100;0	1.5	True		ENSG00000186862	ENSG00000186862	HGNC:26257