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
ADAMTS9	gene	ADAMTS9	Expert list;Expert Review Amber	Renal ciliopathies		Renal	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis-Related Ciliopathy				30609407		False	2	100;0;0	4.19	False		ENSG00000163638	ENSG00000163638	HGNC:13202													
BBIP1	gene	BBIP1	Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN	Renal ciliopathies		Renal	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 18, OMIM:615995				24026985;32055034;37239474		False	2	50;50;0	4.19	False		ENSG00000214413	ENSG00000214413	HGNC:28093													
CEP55	gene	CEP55	Expert Review Amber;Literature	Renal ciliopathies		Renal	BIALLELIC, autosomal or pseudoautosomal	Meckel-like syndrome;autosomal recessive lethal ciliopathy;renal dysplasia				28295209;30622327;28264986		False	2	0;100;0	4.19	False		ENSG00000138180	ENSG00000138180	HGNC:1161													
CYS1	gene	CYS1	Expert Review Amber;Literature	Renal ciliopathies		Renal	BIALLELIC, autosomal or pseudoautosomal	Polycystic kidney disease, MONDO:0020642				34521872		False	2	0;100;0	4.19	False		ENSG00000205795	ENSG00000205795	HGNC:18525													
DCDC2	gene	DCDC2	Expert list;Expert Review Amber;Orphanet;Radboud University Medical Center, Nijmegen	Renal ciliopathies		Renal	BIALLELIC, autosomal or pseudoautosomal	Neonatal sclerosing cholangitis;Nephronophthisis 19, 616217				25557784;22558177;27319779;27469900;31821705		False	2	0;60;40	4.19	False		ENSG00000146038	ENSG00000146038	HGNC:18141													
KIF14	gene	KIF14	Expert list;Expert Review Amber;Orphanet;Other;Radboud University Medical Center, Nijmegen	Renal ciliopathies		Renal	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 12, OMIM:616258;Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552				24128419		False	2	33;67;0	4.19	False		ENSG00000118193	ENSG00000118193	HGNC:19181													
NEK1	gene	NEK1	Expert list;Expert Review Amber	Renal ciliopathies		Renal	BIALLELIC, autosomal or pseudoautosomal	"Short-rib thoracic dysplasia 6 with or without polydactyly, MIM#	263520"				21211617;22499340;25492405;28123176		False	2	50;50;0	4.19	False		ENSG00000137601	ENSG00000137601	HGNC:7744													
PDIA6	gene	PDIA6	Expert Review Amber;Literature	Renal ciliopathies		Renal	BIALLELIC, autosomal or pseudoautosomal	Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes;Polycystic kidney dysplasia, HP:0000113;Diabetes mellitus, HP:0000819;Microcephaly, HP:0000252				33495992;34487921;35856135;39044457;40974269		False	2	50;50;0	4.19	False		ENSG00000143870	ENSG00000143870	HGNC:30168													
SCLT1	gene	SCLT1	Expert list;Expert Review Amber	Renal ciliopathies		Renal	BIALLELIC, autosomal or pseudoautosomal	Orofaciodigital syndrome type IX;Senior-Loken syndrome				28486600;30425282;30237576;28005958;24285566		False	2	0;100;0	4.19	False		ENSG00000151466	ENSG00000151466	HGNC:26406													
TMEM72	gene	TMEM72	Expert Review Amber;Literature	Renal ciliopathies		Renal	BIALLELIC, autosomal or pseudoautosomal	nephronophthisis, MONDO:0019005				41308066		False	2	100;0;0	4.19	False		ENSG00000187783	ENSG00000187783	HGNC:31658													
ZNF423	gene	ZNF423	Emory Genetics Laboratory;Expert list;Expert Review Amber;Orphanet;Other;Radboud University Medical Center, Nijmegen	Renal ciliopathies		Renal	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844				22863007;32925911;33323469		False	2	0;50;50	4.19	False		ENSG00000102935	ENSG00000102935	HGNC:16762