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
ARMC9	gene	ARMC9	Expert Review Red;Literature	Renal ciliopathies		Renal	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 30, OMIM:617622				28625504		False	1	50;0;50	4.19	False		ENSG00000135931	ENSG00000135931	HGNC:20730													
B9D1	gene	B9D1	Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN	Renal ciliopathies		Renal	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 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance);24886560 (2 cases with Joubert);25920555 (report a case with heterozygous mutations in CC2D2A and B9D1)		False	1	0;0;100	4.19	False		ENSG00000108641	ENSG00000108641	HGNC:24123													
C8orf37	gene	C8orf37	Expert Review Red;Other	Renal ciliopathies		Renal	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 21, 617406				26854863;27008867		False	1	0;0;0	4.19	False		ENSG00000156172	ENSG00000156172	HGNC:27232													
CCDC28B	gene	CCDC28B	Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN	Renal ciliopathies		Renal	BIALLELIC, autosomal or pseudoautosomal	ciliopathies;{Bardet-Biedl syndrome 1, modifier of}, 209900				23015189		False	1	0;100;0	4.19	False		ENSG00000160050	ENSG00000160050	HGNC:28163													
EXOC3L2	gene	EXOC3L2	Expert list;Expert Review Red	Renal ciliopathies		Renal	BIALLELIC, autosomal or pseudoautosomal	Brain malformation renal syndrome, OMIM:620943				28749478;27894351		False	1	0;0;100	4.19	False		ENSG00000130201	ENSG00000283632	HGNC:30162													
EXOC8	gene	EXOC8	Expert Review Red;Radboud University Medical Center, Nijmegen	Renal ciliopathies		Renal		No OMIM phenotype;Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78)				22700954		False	1	0;0;100	4.19	False		ENSG00000116903	ENSG00000116903	HGNC:24659													
IFT74	gene	IFT74	Expert Review Red;Other	Renal ciliopathies		Renal	BIALLELIC, autosomal or pseudoautosomal	?Bardet-Biedl syndrome 20, 617119				27486776		False	1	0;0;100	4.19	False		ENSG00000096872	ENSG00000096872	HGNC:21424													
KIAA0556	gene	KIAA0556	Expert Review Red;Other	Renal ciliopathies		Renal	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 26, OMIM:616784;Joubert syndrome 26, MONDO:0014771				29765138;27245168;26714646		False	1	0;0;0	4.19	False		ENSG00000047578	ENSG00000047578	HGNC:29068													
MUC1	gene	MUC1	Expert list;Expert Review Red;UKGTN	Renal ciliopathies		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel						False	1	0;0;0	4.19	False		ENSG00000185499	ENSG00000185499	HGNC:7508													
PDE6D	gene	PDE6D	Expert list;Expert Review Red;Other;Radboud University Medical Center, Nijmegen;UKGTN	Renal ciliopathies		Renal	BIALLELIC, autosomal or pseudoautosomal	?Joubert syndrome 22;Joubert Syndrome and Senior-Loken Syndrome 24 gene panel;?Joubert syndrome 22, 615665				24166846		False	1	0;25;75	4.19	False		ENSG00000156973	ENSG00000156973	HGNC:8788													
PIBF1	gene	PIBF1	Expert Review;Expert Review Red;Literature;Research	Renal ciliopathies		Renal	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	4.19	False		ENSG00000083535	ENSG00000083535	HGNC:23352													
SEC63	gene	SEC63	Expert list;Expert Review Red;UKGTN	Renal ciliopathies		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel						False	1	0;0;0	4.19	False		ENSG00000025796	ENSG00000025796	HGNC:21082													
SLC41A1	gene	SLC41A1	Expert list;Expert Review Red	Renal ciliopathies		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis				23661805		False	1	0;0;100	4.19	False		ENSG00000133065	ENSG00000133065	HGNC:19429													
TRIM32	gene	TRIM32	Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN	Renal ciliopathies		Renal	BIALLELIC, autosomal or pseudoautosomal	?Bardet-Biedl syndrome 11, 615988;Muscular dystrophy, limb-girdle, type 2H, 254110				11822024;16606853		False	1	0;0;100	4.19	False		ENSG00000119401	ENSG00000119401	HGNC:16380													
UMOD	gene	UMOD	Emory Genetics Laboratory;Expert list;Expert Review Red;UKGTN	Renal ciliopathies		Renal	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel						False	1	0;0;0	4.19	False		ENSG00000169344	ENSG00000169344	HGNC:12559