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
AHI1	gene	AHI1	Expert Review Green;Expert Review Green;Expert list;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 3, MIM#608629			Renal cyst;HP:0000107	PubMed: 15322546;15467982;16453322;29146704		False	3	100;0;0	1.66	True		ENSG00000135541	ENSG00000135541	HGNC:21575													
ALG5	gene	ALG5	Expert Review Green;Literature	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polycystic kidney disease 7, MIM# 620056;Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline			Renal cyst;HP:0000107	35896117		False	3	100;0;0	1.66	True		ENSG00000120697	ENSG00000120697	HGNC:20266													
ALG8	gene	ALG8	Expert Review Green;Expert Review	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polycystic liver disease 3 with or without kidney cysts, MIM# 617874			Renal cyst;HP:0000107	PMID: 28375157, 32457805		False	3	100;0;0	1.66	True		ENSG00000159063	ENSG00000159063	HGNC:23161													
ALG9	gene	ALG9	Expert Review Green;Literature	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Il, MIM#608776;Gillessen-Kaesbach-Nishimura syndrome, MIM#263210;Polycystic kidney disease;ALG9-associated autosomal dominant polycystic kidney disease MONDO:0700000			Renal cyst;HP:0000107	31395617		False	3	50;50;0	1.66	True		ENSG00000086848	ENSG00000086848	HGNC:15672													
ANKS6	gene	ANKS6	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 16, MIM# 615382;MONDO:0014158			Renal cyst;HP:0000107	23793029;31678577;31635528;26039630;24610927		False	3	100;0;0	1.66	True		ENSG00000165138	ENSG00000165138	HGNC:26724													
ARL13B	gene	ARL13B	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 8, MIM# 612291			Renal cyst;HP:0000107	18674751;25138100;26092869;27894351;29255182;17488627		False	3	100;0;0	1.66	True		ENSG00000169379	ENSG00000169379	HGNC:25419													
ARL6	gene	ARL6	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 3, MIM# 600151			Renal cyst;HP:0000107	15258860;32361989;31888296;25402481		False	3	100;0;0	1.66	True		ENSG00000113966	ENSG00000113966	HGNC:13210													
BBS1	gene	BBS1	Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 1, MIM# 209900			Renal cyst;HP:0000107	20177705		False	3	100;0;0	1.66	True		ENSG00000174483	ENSG00000174483	HGNC:966													
BBS10	gene	BBS10	Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 10, MIM# 615987			Renal cyst;HP:0000107	16582908;19252258		False	3	100;0;0	1.66	True		ENSG00000179941	ENSG00000179941	HGNC:26291													
BBS12	gene	BBS12	Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 12, MIM# 615989			Renal cyst;HP:0000107	19797195;29633607;26082521		False	3	100;0;0	1.66	True		ENSG00000181004	ENSG00000181004	HGNC:26648													
BBS2	gene	BBS2	Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 2, MIM# 615981			Renal cyst;HP:0000107	11567139;16823392;28143435		False	3	100;0;0	1.66	True		ENSG00000125124	ENSG00000125124	HGNC:967													
BBS4	gene	BBS4	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 4, MIM#615982;MONDO:0014433			Renal cyst;HP:0000107	12016587;11381270		False	3	100;0;0	1.66	True		ENSG00000140463	ENSG00000140463	HGNC:969													
BBS5	gene	BBS5	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 5, MIM#615983;MONDO:0014434			Renal cyst;HP:0000107	19252258;15137946;10053027;15637713		False	3	100;0;0	1.66	True		ENSG00000163093	ENSG00000163093	HGNC:970													
BBS7	gene	BBS7	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 7, MIM# 615984;MONDO:0014435			Renal cyst;HP:0000107	12567324;21937992;19797195		False	3	100;0;0	1.66	True		ENSG00000138686	ENSG00000138686	HGNC:18758													
BBS9	gene	BBS9	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 9, MIM#615986;MONDO:0014437			Renal cyst;HP:0000107	16380913;22353939;32686083;32037757		False	3	100;0;0	1.66	True		ENSG00000122507	ENSG00000122507	HGNC:30000													
CC2D2A	gene	CC2D2A	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 6, MIM# 612284			Renal cyst;HP:0000107			False	3	100;0;0	1.66	True		ENSG00000048342	ENSG00000048342	HGNC:29253													
CEP164	gene	CEP164	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome;Nephronophthisis 15, MIM# 614845;Oro-facio-digital syndrome			Renal cyst;HP:0000107	34132027;34013113;32055034;27708425;22863007		False	3	100;0;0	1.66	True		ENSG00000110274	ENSG00000110274	HGNC:29182													
CEP290	gene	CEP290	Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Senior-Loken syndrome 6, MIM# 610189			Renal cyst;HP:0000107	18327255;20690115;16682973;32208788		False	3	100;0;0	1.66	True		ENSG00000198707	ENSG00000198707	HGNC:29021													
CEP83	gene	CEP83	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 18, MIM# 615862;MONDO:0014374;Retinal dystrophy;ID			Renal cyst;HP:0000107	24882706;33938610		False	3	100;0;0	1.66	True		ENSG00000173588	ENSG00000173588	HGNC:17966													
COL4A1	gene	COL4A1	Expert Review Green;Expert list	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#	611773"			Renal cyst;HP:0000107	25719457;15882279		False	3	100;0;0	1.66	True		ENSG00000187498	ENSG00000187498	HGNC:2202													
COL4A3	gene	COL4A3	Expert Review Green;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	3	100;0;0	1.66	True		ENSG00000169031	ENSG00000169031	HGNC:2204													
COL4A4	gene	COL4A4	Expert Review Green;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	3	100;0;0	1.66	True		ENSG00000081052	ENSG00000081052	HGNC:2206													
COL4A5	gene	COL4A5	Expert Review Green;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	3	100;0;0	1.66	True		ENSG00000188153	ENSG00000188153	HGNC:2207													
CRB2	gene	CRB2	Expert Review Green;Expert list	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	"Ventriculomegaly with cystic kidney disease, MIM#	219730"			Renal cyst;HP:0000107	25557780;33687977;32051522;30212996		False	3	100;0;0	1.66	True		ENSG00000148204	ENSG00000148204	HGNC:18688													
CSPP1	gene	CSPP1	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 21, MIM# 615636;MONDO:0014288			Renal cyst;HP:0000107	24360808;24360803;24360807;25997910		False	3	100;0;0	1.66	True		ENSG00000104218	ENSG00000104218	HGNC:26193													
DCDC2	gene	DCDC2	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 19, MIM# 616217			Renal cyst;HP:0000107	25557784;31821705;27469900		False	3	33;67;0	1.66	True		ENSG00000146038	ENSG00000146038	HGNC:18141													
DLG5	gene	DLG5	Expert Review Green;Expert Review	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Yuksel-Vogel-Bauer syndrome, MIM#620703			Renal cyst;HP:0000107	32631816		False	3	100;0;0	1.66	True		ENSG00000151208	ENSG00000151208	HGNC:2904													
DNAJB11	gene	DNAJB11	Expert Review Green;Expert list	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061;Ivermark II syndrome.			Renal cyst;HP:0000107	29706351;29777155;33129895		False	3	100;0;0	1.66	True		ENSG00000090520	ENSG00000090520	HGNC:14889													
DYNC2H1	gene	DYNC2H1	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091;MONDO:0013127MONDO:0013127			Renal cyst;HP:0000107	31730820		False	3	100;0;0	1.66	True		ENSG00000187240	ENSG00000187240	HGNC:2962													
DZIP1L	gene	DZIP1L	Expert Review Green;Expert list	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Polycystic kidney disease 5, MIM#617610			Renal cyst;HP:0000107	28530676		False	3	100;0;0	1.66	True		ENSG00000158163	ENSG00000158163	HGNC:26551													
FAN1	gene	FAN1	Expert Review Green;Expert list	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Interstitial nephritis, karyomegalic, MIM# 614817			Renal cyst;HP:0000107	PubMed: 22772369;16678356;7847351;8546134		False	3	100;0;0	1.66	True		ENSG00000198690	ENSG00000198690	HGNC:29170													
GANAB	gene	GANAB	Expert Review Green;KidGen_Cystic v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polycystic kidney disease 3, MIM# 600666			Renal cyst;HP:0000107	27259053		False	3	100;0;0	1.66	True		ENSG00000089597	ENSG00000089597	HGNC:4138													
GLIS2	gene	GLIS2	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 7, OMIM#611498;MONDO:0012680			Renal cyst;HP:0000107	17618285;23559409;31676329		False	3	50;50;0	1.66	True		ENSG00000126603	ENSG00000126603	HGNC:29450													
HNF1B	gene	HNF1B	Expert Review Green;KidGen_Cystic v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	Unknown				Renal cyst;HP:0000107			False	3	0;0;0	1.66	False		ENSG00000108753	ENSG00000275410	HGNC:11630													
IFT122	gene	IFT122	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Cranioectodermal dysplasia 1, MIM# 218330;MONDO:0021093			Renal cyst;HP:0000107	20493458;23826986;28370949;33717254;26792575		False	3	100;0;0	1.66	True		ENSG00000163913	ENSG00000163913	HGNC:13556													
IFT140	gene	IFT140	Expert Review Green;Literature	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cystic Kidney Disease, MONDO# 0002473			Renal cyst;HP:0000107	34890546		False	3	100;0;0	1.66	True		ENSG00000187535	ENSG00000187535	HGNC:29077													
IFT140	gene	IFT140	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920;MONDO:0009964;Cystic Kidney Disease, MONDO# 0002473, IFT140-related, dominant			Renal cyst;HP:0000107	22503633;23418020;34890546		False	3	100;0;0	1.66	True		ENSG00000187535	ENSG00000187535	HGNC:29077													
IFT172	gene	IFT172	Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 20, MIM# 619471;Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630			Renal cyst;HP:0000107	30761183;26763875;25168386;24140113		False	3	100;0;0	1.66	True		ENSG00000138002	ENSG00000138002	HGNC:30391													
IFT27	gene	IFT27	Expert Review Green;Expert list;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 19, MIM#615996			Renal cyst;HP:0000107	24488770;30761183;26763875;25443296		False	3	100;0;0	1.66	True		ENSG00000100360	ENSG00000100360	HGNC:18626													
IFT43	gene	IFT43	Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866;Cranioectodermal dysplasia 3, MIM# 614099			Renal cyst;HP:0000107	28400947;21378380;29896747		False	3	100;0;0	1.66	True		ENSG00000119650	ENSG00000119650	HGNC:29669													
IFT74	gene	IFT74	Expert Review Green;Literature;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 20 617119			Renal cyst;HP:0000107	27486776;32144365		False	3	67;33;0	1.66	True		ENSG00000096872	ENSG00000096872	HGNC:21424													
INPP5E	gene	INPP5E	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 1, MIM# 213300;MONDO:0008944			Renal cyst;HP:0000107	19668216;32139166;29230161;29052317;27998989;27401686		False	3	100;0;0	1.66	True		ENSG00000148384	ENSG00000148384	HGNC:21474													
INVS	gene	INVS	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 2, infantile, (MIM#602088)			Renal cyst;HP:0000107	12872123;19177160		False	3	100;0;0	1.66	True		ENSG00000119509	ENSG00000119509	HGNC:17870													
IQCB1	gene	IQCB1	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Senior-Loken syndrome 5, MIM# 609254;MONDO:0012225			Renal cyst;HP:0000107	15723066;21220633;20881296;21901789;33512896;33535056;29219953		False	3	100;0;0	1.66	True		ENSG00000173226	ENSG00000173226	HGNC:28949													
LZTFL1	gene	LZTFL1	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 17 (MIM#615994)			Renal cyst;HP:0000107	22510444;23692385;27312011;22072986		False	3	100;0;0	1.66	True		ENSG00000163818	ENSG00000163818	HGNC:6741													
MAPKBP1	gene	MAPKBP1	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 20, MIM# 617271;MONDO:0014997			Renal cyst;HP:0000107	28089251;33623699;32505465;32055034		False	3	100;0;0	1.66	True		ENSG00000137802	ENSG00000137802	HGNC:29536													
MKKS	gene	MKKS	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 6 (MIM#605231);McKusick-Kaufman syndrome, MIM# 236700			Renal cyst;HP:0000107	10802661;10973251		False	3	100;0;0	1.66	True		ENSG00000125863	ENSG00000125863	HGNC:7108													
MKS1	gene	MKS1	Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 13, MIM# 615990;MONDO:0014441;Meckel syndrome 1, MIM# 249000			Renal cyst;HP:0000107	18327255;24608809;17377820		False	3	100;0;0	1.66	True		ENSG00000011143	ENSG00000011143	HGNC:7121													
MUC1	gene	MUC1	Expert Review Green;KidGen_Cystic v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	Unknown				Renal cyst;HP:0000107			False	3	0;0;0	1.66	False		ENSG00000185499	ENSG00000185499	HGNC:7508													
NEK1	gene	NEK1	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520			Renal cyst;HP:0000107	21211617;22499340;25492405;28123176		False	3	100;0;0	1.66	True		ENSG00000137601	ENSG00000137601	HGNC:7744													
NEK8	gene	NEK8	Expert Review Green;Other	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polycystic kidney disease 8, MIM# 620903			Renal cyst;HP:0000107	37598857		False	3	67;33;0	1.66	True	Other	ENSG00000160602	ENSG00000160602	HGNC:13387													
NEK8	gene	NEK8	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Renal-hepatic-pancreatic dysplasia 2, MIM# 615415;MONDO:0014174;Familial renal cystic disease MONDO:0019741, NEK8-related, dominant			Renal cyst;HP:0000107	33131162;23418306;26862157;26697755;26967905;23274954;31633649		False	3	100;0;0	1.66	True		ENSG00000160602	ENSG00000160602	HGNC:13387													
NPHP1	gene	NPHP1	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 1, juvenile, MIM# 256100			Renal cyst;HP:0000107	23559409		False	3	100;0;0	1.66	True		ENSG00000144061	ENSG00000144061	HGNC:7905													
NPHP3	gene	NPHP3	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 3, MIM# 604387;Renal-hepatic-pancreatic dysplasia 1, MIM# 208540			Renal cyst;HP:0000107	19177160;34013113;33323469;32341812;28921755		False	3	100;0;0	1.66	True		ENSG00000113971	ENSG00000113971	HGNC:7907													
NPHP4	gene	NPHP4	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 4, MIM# 606966;Senior-Loken syndrome 4, MIM# 606996			Renal cyst;HP:0000107	12244321;12205563;34013113		False	3	100;0;0	1.66	True		ENSG00000131697	ENSG00000131697	HGNC:19104													
OFD1	gene	OFD1	Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Orofaciodigital syndrome I, MIM# 311200;Joubert syndrome 10, MIM# 300804			Renal cyst;HP:0000107	19800048;22353940		False	3	100;0;0	1.66	True		ENSG00000046651	ENSG00000046651	HGNC:2567													
PKD1	gene	PKD1	Expert Review Green;KidGen_Cystic v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polycystic kidney disease 1, MIM# 173900			Renal cyst;HP:0000107			False	3	100;0;0	1.66	True		ENSG00000008710	ENSG00000008710	HGNC:9008													
PKD2	gene	PKD2	Expert Review Green;KidGen_Cystic v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polycystic kidney disease 2, MIM#613095 AD			Renal cyst;HP:0000107			False	3	100;0;0	1.66	True		ENSG00000118762	ENSG00000118762	HGNC:9009													
PKHD1	gene	PKHD1	Expert Review Green;KidGen_Cystic v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200			Renal cyst;HP:0000107			False	3	50;50;0	1.66	True		ENSG00000170927	ENSG00000170927	HGNC:9016													
PKHD1	gene	PKHD1	Expert Review Green;Expert Review	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	"Polycystic kidney disease 4, with or without hepatic disease, MIM#	263200"			Renal cyst;HP:0000107			False	3	100;0;0	1.66	True		ENSG00000170927	ENSG00000170927	HGNC:9016													
PMM2	gene	PMM2	Expert Review Green;Literature	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related			Renal cyst;HP:0000107	28373276;32595772		False	3	100;0;0	1.66	True		ENSG00000140650	ENSG00000140650	HGNC:9115													
PRKCSH	gene	PRKCSH	Expert Review Green;KidGen_Cystic v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polycystic liver disease 1, MIM# 174050, with or without kidney cysts			Renal cyst;HP:0000107	12577059		False	3	50;50;0	1.66	True		ENSG00000130175	ENSG00000130175	HGNC:9411													
PSKH1	gene	PSKH1	Expert Review Green;Literature	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Cholestasis, progressive familial intrahepatic, 13, MIM# 620962			Renal cyst;HP:0000107	PMID: 39132680		False	3	100;0;0	1.66	True		ENSG00000159792	ENSG00000159792	HGNC:9529													
RPGRIP1L	gene	RPGRIP1L	Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 7, MIM# 611560;Meckel syndrome 5, MIM# 611561;COACH syndrome 3, MIM# 619113;Nephronophthisis			Renal cyst;HP:0000107	17558409;17558407;17960139;26071364		False	3	100;0;0	1.66	True		ENSG00000103494	ENSG00000103494	HGNC:29168													
SCLT1	gene	SCLT1	Expert Review Green;Expert list;Expert list	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Senior-Loken syndrome;Bardet-Biedl syndrome			Renal cyst;HP:0000107	28486600;30425282;30237576;28005958;24285566		False	3	33;33;33	1.66	True		ENSG00000151466	ENSG00000151466	HGNC:26406													
SDCCAG8	gene	SDCCAG8	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 16, MIM# 615993;MONDO:0014444;Senior-Loken syndrome 7, MIM# 613615;MONDO:0013326;Nephronophthisis			Renal cyst;HP:0000107	20835237;22626039;22626039;32432520;31534065;26968886		False	3	100;0;0	1.66	True		ENSG00000054282	ENSG00000054282	HGNC:10671													
SEC63	gene	SEC63	Expert Review Green;Expert list	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polycystic liver disease 2, MIM#617004			Renal cyst;HP:0000107	15133510		False	3	50;0;50	1.66	True		ENSG00000025796	ENSG00000025796	HGNC:21082													
TCTN2	gene	TCTN2	Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 24, MIM# 616654;MONDO:0014724;Meckel syndrome 8, MIM# 613885;MONDO:0013482			Renal cyst;HP:0000107	21462283;21565611;25118024;21725307;32139166;25118024;32655147;33590725		False	3	100;0;0	1.66	True		ENSG00000168778	ENSG00000168778	HGNC:25774													
TCTN3	gene	TCTN3	Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 18, MIM# 614815;MONDO:0013896;Mohr-Majewski syndrome;Meckel-Gruber syndrome			Renal cyst;HP:0000107	22883145;32139166;25118024;22883145;34096792		False	3	100;0;0	1.66	True		ENSG00000119977	ENSG00000119977	HGNC:24519													
TMEM138	gene	TMEM138	Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 16, MIM# 614465;MONDO:0013764			Renal cyst;HP:0000107	22282472;28102635;27434533		False	3	100;0;0	1.66	True		ENSG00000149483	ENSG00000149483	HGNC:26944													
TMEM216	gene	TMEM216	Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 2, MIM# 608091;Meckel syndrome 2, MIM# 603194			Renal cyst;HP:0000107	20036350;20512146		False	3	100;0;0	1.66	True		ENSG00000187049	ENSG00000187049	HGNC:25018													
TMEM231	gene	TMEM231	Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 20, MIM# 614970;MONDO:0013994;Meckel syndrome 11, MIM# 615397;MONDO:0014164			Renal cyst;HP:0000107	23012439;23349226;22179047;30617574;27449316;31663672;25869670		False	3	100;0;0	1.66	True		ENSG00000205084	ENSG00000205084	HGNC:37234													
TMEM237	gene	TMEM237	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 14, MIM# 614424			Renal cyst;HP:0000107	22152675		False	3	100;0;0	1.66	True		ENSG00000155755	ENSG00000155755	HGNC:14432													
TMEM67	gene	TMEM67	Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 11, MIM# 613550;Joubert syndrome 6, MIM# 610688;Meckel syndrome 3, MIM# 607361			Renal cyst;HP:0000107	16415887;17377820;17160906;19508969		False	3	100;0;0	1.66	True		ENSG00000164953	ENSG00000164953	HGNC:28396													
TRAF3IP1	gene	TRAF3IP1	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Senior-Loken syndrome 9, MIM# 616629;MONDO:0014712			Renal cyst;HP:0000107	26487268;18364699;21945076		False	3	100;0;0	1.66	True		ENSG00000204104	ENSG00000204104	HGNC:17861													
TSC1	gene	TSC1	Expert Review Green;KidGen_Cystic v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	Unknown				Renal cyst;HP:0000107			False	3	100;0;0	1.66	False		ENSG00000165699	ENSG00000165699	HGNC:12362													
TSC2	gene	TSC2	Expert Review Green;Expert Review Green;KidGen_Cystic v38.1.0;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Brain Malformations Flagship	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	Unknown				Renal cyst;HP:0000107			False	3	100;0;0	1.66	False		ENSG00000103197	ENSG00000103197	HGNC:12363													
TTC21B	gene	TTC21B	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 12, MIM# 613820;Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819			Renal cyst;HP:0000107	29068549;25492405;21258341		False	3	100;0;0	1.66	True		ENSG00000123607	ENSG00000123607	HGNC:25660													
TTC8	gene	TTC8	Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 8, MIM# 615985			Renal cyst;HP:0000107	14520415;19797195		False	3	100;0;0	1.66	True		ENSG00000165533	ENSG00000165533	HGNC:20087													
TULP3	gene	TULP3	Expert Review Green;Literature	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Hepatorenocardiac degenerative fibrosis, MIM# 619902			Renal cyst;HP:0000107	PMID: 35397207		False	3	100;0;0	1.66	True		ENSG00000078246	ENSG00000078246	HGNC:12425													
TXNDC15	gene	TXNDC15	Expert Review Green;Expert Review;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 14, MIM# 619879			Renal cyst;HP:0000107	30851085;27894351		False	3	100;0;0	1.66	True		ENSG00000113621	ENSG00000113621	HGNC:20652													
UMOD	gene	UMOD	Expert Review Green;KidGen_Cystic v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	Unknown				Renal cyst;HP:0000107			False	3	0;0;0	1.66	False		ENSG00000169344	ENSG00000169344	HGNC:12559													
VHL	gene	VHL	Expert Review Green;Expert list	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"von Hippel-Lindau syndrome, MIM#	193300"			Renal cyst;HP:0000107			False	3	100;0;0	1.66	True		ENSG00000134086	ENSG00000134086	HGNC:12687													
WDPCP	gene	WDPCP	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 15, MIM# 615992;OFD;Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085			Renal cyst;HP:0000107	20671153;25427950;32055034;29588463;28289185		False	3	100;0;0	1.66	True		ENSG00000143951	ENSG00000143951	HGNC:28027													
WDR19	gene	WDR19	Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis 13, MIM# 614377;Senior-Loken syndrome 8, MIM# 616307			Renal cyst;HP:0000107	22019273;23559409;23683095		False	3	100;0;0	1.66	True		ENSG00000157796	ENSG00000157796	HGNC:18340													
WDR35	gene	WDR35	Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091;MONDO:0013569;Cranioectodermal dysplasia 2, MIM# 613610			Renal cyst;HP:0000107	21473986		False	3	100;0;0	1.66	True		ENSG00000118965	ENSG00000118965	HGNC:29250													
WDR60	gene	WDR60	Expert Review Green;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503			Renal cyst;HP:0000107	23910462;29271569;26874042		False	3	100;0;0	1.66	True		ENSG00000126870	ENSG00000126870	HGNC:21862													
XPNPEP3	gene	XPNPEP3	Expert Review Green;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis-like nephropathy 1, OMIM #613159			Renal cyst;HP:0000107	20179356;32660933		False	3	50;0;50	1.66	True		ENSG00000196236	ENSG00000196236	HGNC:28052													
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	1.66	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	1.66	True		ENSG00000123810	ENSG00000123810	HGNC:28636													
BBIP1	gene	BBIP1	Expert Review Amber;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 18, MIM#615995			Renal cyst;HP:0000107	24026985;32055034		False	2	0;100;0	1.66	True		ENSG00000214413	ENSG00000214413	HGNC:28093													
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	1.66	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	1.66	True		ENSG00000106477	ENSG00000106477	HGNC:12370													
CYS1	gene	CYS1	Expert Review Amber;Literature	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Polycystic kidney disease, MONDO:0020642			Renal cyst;HP:0000107	34521872		False	2	0;100;0	1.66	True		ENSG00000205795	ENSG00000205795	HGNC:18525													
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	1.66	True		ENSG00000118197	ENSG00000118197	HGNC:25360													
PDIA6	gene	PDIA6	Expert Review Amber;Literature	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes			Renal cyst;HP:0000107	PMID: 33495992		False	2	0;100;0	1.66	True		ENSG00000143870	ENSG00000143870	HGNC:30168													
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	1.66	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	1.66	True		ENSG00000179029	ENSG00000179029	HGNC:28128													
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	1.66	True		ENSG00000102935	ENSG00000102935	HGNC:16762													
ATXN10	gene	ATXN10	Expert Review Red;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis			Renal cyst;HP:0000107	21565611		False	1	0;0;100	1.66	True		ENSG00000130638	ENSG00000130638	HGNC:10549													
B9D1	gene	B9D1	Expert Review Amber;Expert Review Red;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome 9, OMIM #614209;Joubert syndrome 27, OMIM #617120			Renal cyst;HP:0000107			False	1	0;50;50	1.66	True		ENSG00000108641	ENSG00000108641	HGNC:24123													
C2CD3	gene	C2CD3	Expert list;Expert Review Red;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Orofaciodigital syndrome XIV, MIM# 615948			Renal cyst;HP:0000107			False	1	33;33;33	1.66	True		ENSG00000168014	ENSG00000168014	HGNC:24564													
C5orf42	gene	C5orf42	Expert Review Red;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 17, MIM#614615;Orofaciodigital syndrome VI, MIM# 277170			Renal cyst;HP:0000107			False	1	0;0;100	1.66	True		ENSG00000197603	ENSG00000197603	HGNC:25801													
CCDC28B	gene	CCDC28B	Expert Review Red;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	Other	{Bardet-Biedl syndrome 1, modifier of}, MIM#209900			Renal cyst;HP:0000107			False	1	0;0;100	1.66	True		ENSG00000160050	ENSG00000160050	HGNC:28163													
CEP104	gene	CEP104	Expert Review Red;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 25, MIM# 616781;MONDO:0014770			Renal cyst;HP:0000107			False	1	0;0;100	1.66	True		ENSG00000116198	ENSG00000116198	HGNC:24866													
EVC	gene	EVC	Expert Review Green;Expert Review;Expert Review Red;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Ellis-van Creveld syndrome, MIM#225500			Renal cyst;HP:0000107			False	1	0;50;50	1.66	True		ENSG00000072840	ENSG00000072840	HGNC:3497													
EVC2	gene	EVC2	Expert Review Red;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Ellis van Creveld syndrome			Renal cyst;HP:0000107			False	1	0;50;50	1.66	True		ENSG00000173040	ENSG00000173040	HGNC:19747													
FOXC1	gene	FOXC1	Expert Review Red;Expert Review Red;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	Unknown	Axenfeld-Rieger syndrome, type 3, MIM#602482			Renal cyst;HP:0000107			False	1	0;0;100	1.66	True		ENSG00000054598	ENSG00000054598	HGNC:3800													
HYLS1	gene	HYLS1	Expert Review Red;Expert list;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Hydrolethalus syndrome (MIM#236680);Joubert syndrome			Renal cyst;HP:0000107	15843405;18648327;19400947;19656802;32509774;26830932		False	1	0;50;50	1.66	True		ENSG00000198331	ENSG00000198331	HGNC:26558													
ICK	gene	ICK	Expert Review Red;Expert list	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	"Endocrine-cerebroosteodysplasia, MIM#	612651"			Renal cyst;HP:0000107	19185282;27069622		False	1	50;0;50	1.66	True		ENSG00000112144	ENSG00000112144	HGNC:21219													
IFT57	gene	IFT57	Expert Review Red;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	Unknown	Orofaciodigital syndrome XVIII, MIM#617927			Renal cyst;HP:0000107			False	1	0;0;100	1.66	True		ENSG00000114446	ENSG00000114446	HGNC:17367													
IFT81	gene	IFT81	Expert Review Red;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 19 with or without polydactyly;OMIM #617895			Renal cyst;HP:0000107	26275418		False	1	0;0;100	1.66	True		ENSG00000122970	ENSG00000122970	HGNC:14313													
KIAA0556	gene	KIAA0556	Expert Review Red;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 26, MIM# 616784			Renal cyst;HP:0000107	26714646;27245168		False	1	0;0;100	1.66	True		ENSG00000047578	ENSG00000047578	HGNC:29068													
KIAA0586	gene	KIAA0586	Expert Review Red;Literature;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546;Joubert syndrome 23, MIM# 616490			Renal cyst;HP:0000107	26166481;26096313;29146704		False	1	50;0;50	1.66	True		ENSG00000100578	ENSG00000100578	HGNC:19960													
KIAA0753	gene	KIAA0753	Expert Review Red;Expert list;Expert list;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Short-rib skeletal dysplasia;Orofaciodigital syndrome XV, MIM# 617127;Jeune ATD			Renal cyst;HP:0000107	29138412;26643951;31816441		False	1	50;0;50	1.66	True		ENSG00000198920	ENSG00000198920	HGNC:29110													
KIF14	gene	KIF14	Expert Review Red;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	Unknown				Renal cyst;HP:0000107			False	1	0;0;100	1.66	True		ENSG00000118193	ENSG00000118193	HGNC:19181													
KIF7	gene	KIF7	Expert Review Red;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Acrocallosal syndrome, MIM# 200990;Joubert syndrome 12, MIM# 200990			Renal cyst;HP:0000107			False	1	0;0;100	1.66	True		ENSG00000166813	ENSG00000166813	HGNC:30497													
LRP5	gene	LRP5	Expert Review Red;Expert list	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Polycystic liver disease 4 with or without kidney cysts, MIM#	617875"			Renal cyst;HP:0000107	25920554;24706814		False	1	0;0;100	1.66	True		ENSG00000162337	ENSG00000162337	HGNC:6697													
PDE6D	gene	PDE6D	Expert Review Amber;Expert Review Red;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 22, OMIM #615665			Renal cyst;HP:0000107	24166846		False	1	0;50;50	1.66	True		ENSG00000156973	ENSG00000156973	HGNC:8788													
POC1B	gene	POC1B	Expert Review Red;Expert list;Expert Review Red;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Cone-rod dystrophy 20, MIM#615973			Renal cyst;HP:0000107			False	1	0;0;100	1.66	True		ENSG00000139323	ENSG00000139323	HGNC:30836													
SLC41A1	gene	SLC41A1	Expert Review Red;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Nephronophthisis-like nephropathy 2, MIM# 619468			Renal cyst;HP:0000107	23661805		False	1	0;0;100	1.66	True		ENSG00000133065	ENSG00000133065	HGNC:19429													
TCTN1	gene	TCTN1	Expert Review Red;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Joubert syndrome 13, MIM# 614173			Renal cyst;HP:0000107	21725307;26477546;31302911;26489806;22693042		False	1	0;0;100	1.66	True		ENSG00000204852	ENSG00000204852	HGNC:26113													
TRIM32	gene	TRIM32	Expert Review Red;KidGen_CilioNephronop v38.1.0	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 11, MIM# 615988			Renal cyst;HP:0000107	16606853		False	1	0;0;100	1.66	True		ENSG00000119401	ENSG00000119401	HGNC:16380													
WDR34	gene	WDR34	Expert Review Green;Expert Review Red;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services	Renal Cystic Disease_SuperPanel		Renal and urinary tract disorders	BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633			Renal cyst;HP:0000107			False	1	0;0;100	1.66	True		ENSG00000119333	ENSG00000119333	HGNC:28296