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 Review Amber;Literature	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related			Renal cyst;HP:0000107	PMID:30609407		False	2	50;50;0	2.0	True		ENSG00000163638	ENSG00000163638	HGNC:13202													
B9D2	gene	B9D2	Expert Review Amber;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 10, MIM# 614175			Renal cyst;HP:0000107	21763481		False	2	0;100;0	2.0	True		ENSG00000123810	ENSG00000123810	HGNC:28636													
BICC1	gene	BICC1	Expert Review Amber;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Multicystic dysplastic kidney, MONDO:0015988;polycystic kidney disease, MONDO:0020642			Renal cyst;HP:0000107	21922595, 35005812, 39253489, 39655693, 41278337		False	2	0;50;50	2.0	True		ENSG00000122870	ENSG00000122870	HGNC:19351													
CEP120	gene	CEP120	Expert Review Amber;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300			Renal cyst;HP:0000107			False	2	50;50;0	2.0	True		ENSG00000168944	ENSG00000168944	HGNC:26690													
CEP41	gene	CEP41	Expert Review Amber;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 15, MIM# 614464			Renal cyst;HP:0000107	22246503		False	2	0;100;0	2.0	True		ENSG00000106477	ENSG00000106477	HGNC:12370													
COL4A3	gene	COL4A3	Expert Review Amber;Literature	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Alport syndrome MONDO:0018965			Renal cyst;HP:0000107	39190485;38514012		False	2	50;50;0	2.0	True		ENSG00000169031	ENSG00000169031	HGNC:2204													
COL4A4	gene	COL4A4	Expert Review Amber;Literature	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Alport syndrome MONDO:0018965			Renal cyst;HP:0000107	38514012		False	2	50;50;0	2.0	True		ENSG00000081052	ENSG00000081052	HGNC:2206													
COL4A5	gene	COL4A5	Expert Review Amber;Literature	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Alport syndrome MONDO:0018965			Renal cyst;HP:0000107	38790225;38680391;38514012		False	2	50;50;0	2.0	True		ENSG00000188153	ENSG00000188153	HGNC:2207													
DDX59	gene	DDX59	Expert Review Amber;Expert Review;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Orofaciodigital syndrome V (MIM#174300)			Renal cyst;HP:0000107	29127725;23972372;28711741		False	2	50;50;0	2.0	True		ENSG00000118197	ENSG00000118197	HGNC:25360													
ICK	gene	ICK	Expert Review Amber;Expert list	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	"Endocrine-cerebroosteodysplasia, MIM#	612651;Cranioectodermal dysplasia 6, MIM# 621337"			Renal cyst;HP:0000107	19185282;27069622;40615527;24797473		False	2	33;33;33	2.0	True		ENSG00000112144	ENSG00000112144	HGNC:21219													
SEC16B	gene	SEC16B	Expert Review Amber;Expert Review	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related			Renal cyst;HP:0000107	PMID: 28375157, 28862642, 30652979		False	2	0;50;50	2.0	True		ENSG00000120341	ENSG00000120341	HGNC:30301													
TMEM107	gene	TMEM107	Expert Review Amber;Expert Review;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 13 (MIM#617562);Orofaciodigital syndrome XVI (MIM#617563)			Renal cyst;HP:0000107	26595381;26123494		False	2	0;100;0	2.0	True		ENSG00000179029	ENSG00000179029	HGNC:28128													
TMEM72	gene	TMEM72	Expert Review Amber;Literature	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis, MONDO:0019005, TMEM72-related			Renal cyst;HP:0000107	41308066		False	2	0;100;0	2.0	True		ENSG00000187783	ENSG00000187783	HGNC:31658													
UGGT1	gene	UGGT1	Expert Review Amber;Literature	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type IICC, MIM# 621381			Renal cyst;HP:0000107	PMID:40267907		False	2	0;100;0	2.0	True		ENSG00000136731	ENSG00000136731	HGNC:15663													
ZNF423	gene	ZNF423	Expert Review Amber;Expert Review;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 19, OMIM# 614844			Renal cyst;HP:0000107	22863007		False	2	0;100;0	2.0	True		ENSG00000102935	ENSG00000102935	HGNC:16762