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
AIPL1	gene	AIPL1	Emory Genetics Laboratory;Expert Review Red	Ophthalmological ciliopathies		Ophthalmology		Ciliopathies						False	1	0;0;0	5.22	False		ENSG00000129221	ENSG00000129221	HGNC:359													
B9D1	gene	B9D1	Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN	Ophthalmological ciliopathies		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 9, OMIM:614209;Meckel syndrome 9, MONDO:0013630;Joubert syndrome 27, OMIM:617120;Joubert syndrome 27, MONDO:0014927				21493627;25920555;24886560		False	1	0;0;100	5.22	False		ENSG00000108641	ENSG00000108641	HGNC:24123													
C2orf71	gene	C2orf71	Emory Genetics Laboratory;Expert Review Red	Ophthalmological ciliopathies		Ophthalmology		Ciliopathies						False	1	0;0;0	5.22	False		ENSG00000179270	ENSG00000179270	HGNC:34383													
CCDC28B	gene	CCDC28B	Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN	Ophthalmological ciliopathies		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	ciliopathies;{Bardet-Biedl syndrome 1, modifier of}, 209900				23015189		False	1	0;100;0	5.22	False		ENSG00000160050	ENSG00000160050	HGNC:28163													
CRB1	gene	CRB1	Emory Genetics Laboratory;Expert Review Red	Ophthalmological ciliopathies		Ophthalmology		Ciliopathies						False	1	0;0;0	5.22	False		ENSG00000134376	ENSG00000134376	HGNC:2343													
CRX	gene	CRX	Emory Genetics Laboratory;Expert Review Red	Ophthalmological ciliopathies		Ophthalmology		Ciliopathies						False	1	0;0;0	5.22	False		ENSG00000105392	ENSG00000105392	HGNC:2383													
EXOC8	gene	EXOC8	Expert Review Red;Radboud University Medical Center, Nijmegen	Ophthalmological ciliopathies		Ophthalmology		No OMIM phenotype;Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78)				22700954		False	1	0;0;100	5.22	False		ENSG00000116903	ENSG00000116903	HGNC:24659													
GUCY2D	gene	GUCY2D	Emory Genetics Laboratory;Expert Review Red	Ophthalmological ciliopathies		Ophthalmology		Ciliopathies						False	1	0;0;0	5.22	False		ENSG00000132518	ENSG00000132518	HGNC:4689													
IMPDH1	gene	IMPDH1	Emory Genetics Laboratory;Expert Review Red	Ophthalmological ciliopathies		Ophthalmology		Ciliopathies						False	1	0;0;0	5.22	False		ENSG00000106348	ENSG00000106348	HGNC:6052													
KCNJ13	gene	KCNJ13	Emory Genetics Laboratory;Expert Review Red	Ophthalmological ciliopathies		Ophthalmology		Ciliopathies						False	1	0;0;0	5.22	False		ENSG00000115474	ENSG00000115474	HGNC:6259													
LCA5	gene	LCA5	Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen	Ophthalmological ciliopathies		Ophthalmology		Leber congenital amaurosis 5, 604537;Ciliopathies						False	1	0;0;0	5.22	False		ENSG00000135338	ENSG00000135338	HGNC:31923													
LRAT	gene	LRAT	Emory Genetics Laboratory;Expert Review Red	Ophthalmological ciliopathies		Ophthalmology		Ciliopathies						False	1	0;0;0	5.22	False		ENSG00000121207	ENSG00000121207	HGNC:6685													
PDE6D	gene	PDE6D	Expert list;Expert Review Red;Other;Radboud University Medical Center, Nijmegen;UKGTN	Ophthalmological ciliopathies		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	?Joubert syndrome 22;Joubert Syndrome and Senior-Loken Syndrome 24 gene panel;?Joubert syndrome 22, 615665				24166846		False	1	0;50;50	5.22	False		ENSG00000156973	ENSG00000156973	HGNC:8788													
PIBF1	gene	PIBF1	Expert Review;Expert Review Red;Literature;Research	Ophthalmological ciliopathies		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome;ataxia;vermis hypoplasia;developmental delay;thick superior cerebellar peduncles;superior cerebellar dysplasia				26167768;29695797;30858804		False	1	0;0;0	5.22	False		ENSG00000083535	ENSG00000083535	HGNC:23352													
RD3	gene	RD3	Emory Genetics Laboratory;Expert Review Red	Ophthalmological ciliopathies		Ophthalmology		Ciliopathies						False	1	0;0;0	5.22	False		ENSG00000198570	ENSG00000198570	HGNC:19689													
RDH12	gene	RDH12	Emory Genetics Laboratory;Expert Review Red	Ophthalmological ciliopathies		Ophthalmology		Ciliopathies						False	1	0;0;0	5.22	False		ENSG00000139988	ENSG00000139988	HGNC:19977													
RPE65	gene	RPE65	Emory Genetics Laboratory;Expert Review Red	Ophthalmological ciliopathies		Ophthalmology		Ciliopathies						False	1	0;0;0	5.22	False		ENSG00000116745	ENSG00000116745	HGNC:10294													
RPGR	gene	RPGR	Emory Genetics Laboratory;Expert list;Expert Review Red	Ophthalmological ciliopathies		Ophthalmology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)							False	1	0;0;0	5.22	False		ENSG00000156313	ENSG00000156313	HGNC:10295													
RPGRIP1	gene	RPGRIP1	Emory Genetics Laboratory;Expert Review Red;Orphanet	Ophthalmological ciliopathies		Ophthalmology		Meckel syndrome;Ciliopathies						False	1	0;0;0	5.22	False		ENSG00000092200	ENSG00000092200	HGNC:13436													
SPATA7	gene	SPATA7	Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen	Ophthalmological ciliopathies		Ophthalmology		Leber congenital amaurosis 3, 604232;Ciliopathies;Retinitis pigmentosa, juvenile, autosomal recessive, 604232						False	1	0;0;0	5.22	False		ENSG00000042317	ENSG00000042317	HGNC:20423													
TOPORS	gene	TOPORS	Emory Genetics Laboratory;Expert Review Red	Ophthalmological ciliopathies		Ophthalmology		Ciliopathies						False	1	0;0;0	5.22	False		ENSG00000197579	ENSG00000197579	HGNC:21653													
TRIM32	gene	TRIM32	Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN	Ophthalmological ciliopathies		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	?Bardet-Biedl syndrome 11, 615988;Muscular dystrophy, limb-girdle, type 2H, 254110				11822024;16606853		False	1	0;0;100	5.22	False		ENSG00000119401	ENSG00000119401	HGNC:16380													
TULP1	gene	TULP1	Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen	Ophthalmological ciliopathies		Ophthalmology		Retinitis pigmentosa 14, 600132;Leber congenital amaurosis 15, 613843;Ciliopathies						False	1	0;0;0	5.22	False		ENSG00000112041	ENSG00000112041	HGNC:12423