Renal Cystic Disease_SuperPanel (Version 2.6)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 135 Entitiess
Green Green List (high evidence)	AHI1 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Joubert syndrome 3, MIM#608629 Tags
Green Green List (high evidence)	ALG5 Renal Macrocystic Disease v2.1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Polycystic kidney disease 7, MIM# 620056 Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline Tags
Green Green List (high evidence)	ALG8 Renal Macrocystic Disease v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations Polycystic liver disease 3 with or without kidney cysts, MIM# 617874 Tags
Green Green List (high evidence)	ALG9 Renal Macrocystic Disease v2.1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations 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 Tags
Green Green List (high evidence)	ANKS6 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Nephronophthisis 16, MIM# 615382 MONDO:0014158 Tags
Green Green List (high evidence)	ARL13B Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Joubert syndrome 8, MIM# 612291 Tags
Green Green List (high evidence)	ARL6 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Bardet-Biedl syndrome 3, MIM# 600151 Tags
Green Green List (high evidence)	B9D1 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Ciliopathy, MONDO:0005308, B9D1-related Tags
Green Green List (high evidence)	BBIP1 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Bardet-Biedl syndrome 18, MIM#615995 Tags
Green Green List (high evidence)	BBS1 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 1, MIM# 209900 Tags
Green Green List (high evidence)	BBS10 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 10, MIM# 615987 Tags
Green Green List (high evidence)	BBS12 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 12, MIM# 615989 Tags
Green Green List (high evidence)	BBS2 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 2, MIM# 615981 Tags
Green Green List (high evidence)	BBS4 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Bardet-Biedl syndrome 4, MIM#615982 MONDO:0014433 Tags
Green Green List (high evidence)	BBS5 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Bardet-Biedl syndrome 5, MIM#615983 MONDO:0014434 Tags
Green Green List (high evidence)	BBS7 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Bardet-Biedl syndrome 7, MIM# 615984 MONDO:0014435 Tags
Green Green List (high evidence)	BBS9 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Bardet-Biedl syndrome 9, MIM#615986 MONDO:0014437 Tags
Green Green List (high evidence)	CC2D2A Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Meckel syndrome 6, MIM# 612284 Tags
Green Green List (high evidence)	CEP164 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Bardet-Biedl syndrome Nephronophthisis 15, MIM# 614845 Oro-facio-digital syndrome Tags
Green Green List (high evidence)	CEP290 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Senior-Loken syndrome 6, MIM# 610189 Tags
Green Green List (high evidence)	CEP83 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Nephronophthisis 18, MIM# 615862 MONDO:0014374 Retinal dystrophy ID Tags
Green Green List (high evidence)	COL4A1 Renal Macrocystic Disease v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773 Tags
Green Green List (high evidence)	CRB2 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Ventriculomegaly with cystic kidney disease, MIM# 219730 Tags
Green Green List (high evidence)	CSPP1 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Joubert syndrome 21, MIM# 615636 MONDO:0014288 Tags
Green Green List (high evidence)	CYS1 Renal Macrocystic Disease v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Polycystic kidney disease MONDO:0020642, CYS1-related Tags
Green Green List (high evidence)	CYS1 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Polycystic kidney disease MONDO:0020642, CYS1-related Tags
Green Green List (high evidence)	DCDC2 Renal Ciliopathies and Nephronophthisis v2.5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Nephronophthisis 19, MIM# 616217 Tags
Green Green List (high evidence)	DLG5 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Yuksel-Vogel-Bauer syndrome, MIM#620703 Tags
Green Green List (high evidence)	DNAJB11 Renal Macrocystic Disease v2.1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061 Ivermark II syndrome. Tags
Green Green List (high evidence)	DYNC2H1 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091 MONDO:0013127MONDO:0013127 Tags
Green Green List (high evidence)	DYNC2I1 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503 Tags
Green Green List (high evidence)	DZIP1L Renal Macrocystic Disease v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Polycystic kidney disease 5, MIM#617610 Tags
Green Green List (high evidence)	FAN1 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Interstitial nephritis, karyomegalic, MIM# 614817 Tags
Green Green List (high evidence)	FLCN Renal Macrocystic Disease v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations Birt-Hogg-Dube syndrome, MIM# 135150 Tags
Green Green List (high evidence)	GANAB Renal Macrocystic Disease v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Cystic v38.1.0 Disease associations Polycystic kidney disease 3, MIM# 600666 Tags
Green Green List (high evidence)	GLIS2 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Nephronophthisis 7, OMIM#611498 MONDO:0012680 Tags
Green Green List (high evidence)	HNF1B Renal Macrocystic Disease v2.1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Cystic v38.1.0 Disease associations Renal cysts and diabetes syndrome, MIM# 137920 Tags SV/CNV
Green Green List (high evidence)	IFT122 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Cranioectodermal dysplasia 1, MIM# 218330 MONDO:0021093 Tags
Green Green List (high evidence)	IFT140 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920 MONDO:0009964 Cranioectodermal dysplasia 5, MIM# 621180 {Polycystic kidney disease 9, susceptibility to} MIM#621164 Tags
Green Green List (high evidence)	IFT140 Renal Macrocystic Disease v2.1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations {Polycystic kidney disease 9, susceptibility to} MIM#621164 Tags
Green Green List (high evidence)	IFT172 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 20, MIM# 619471 Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 Tags
Green Green List (high evidence)	IFT27 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list KidGen_CilioNephronop v38.1.0 Disease associations Bardet-Biedl syndrome 19, MIM#615996 Tags
Green Green List (high evidence)	IFT43 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866 Cranioectodermal dysplasia 3, MIM# 614099 Tags
Green Green List (high evidence)	IFT56 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534 Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations Tags
Green Green List (high evidence)	IFT74 Renal Ciliopathies and Nephronophthisis v2.5	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature KidGen_CilioNephronop v38.1.0 Disease associations Bardet-Biedl syndrome 20 617119 Tags
Green Green List (high evidence)	INPP5E Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Joubert syndrome 1, MIM# 213300 MONDO:0008944 Tags
Green Green List (high evidence)	INVS Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Nephronophthisis 2, infantile, (MIM#602088) Tags
Green Green List (high evidence)	IQCB1 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Senior-Loken syndrome 5, MIM# 609254 MONDO:0012225 Tags
Green Green List (high evidence)	NPHP1 deletion ISCA-37405-Loss Region Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Disease associations Nephronophthisis 1, juvenile, MIM# 256100 Joubert syndrome 4, MIM# 609583 Senior-Loken syndrome 1, MIM# 266900 Tags SV/CNV
Green Green List (high evidence)	Chromosome 17q12 deletion syndrome ISCA-37432-Loss Region Renal Macrocystic Disease v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Expert list Disease associations Chromosome 17q12 deletion syndrome MIM#614527 Renal cysts and diabetes (RCAD) syndrome Tags
Green Green List (high evidence)	LZTFL1 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Bardet-Biedl syndrome 17 (MIM#615994) Tags
Green Green List (high evidence)	MAPKBP1 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Nephronophthisis 20, MIM# 617271 MONDO:0014997 Tags
Green Green List (high evidence)	MKKS Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Bardet-Biedl syndrome 6 (MIM#605231) McKusick-Kaufman syndrome, MIM# 236700 Tags
Green Green List (high evidence)	MKS1 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 13, MIM# 615990 MONDO:0014441 Meckel syndrome 1, MIM# 249000 Tags
Green Green List (high evidence)	MUC1 Renal Macrocystic Disease v2.1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Cystic v38.1.0 Disease associations Medullary cystic kidney disease 1 (MIM#174000) Tags VNTR
Green Green List (high evidence)	NEK1 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Tags
Green Green List (high evidence)	NEK8 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Renal-hepatic-pancreatic dysplasia 2, MIM# 615415 MONDO:0014174 Familial renal cystic disease MONDO:0019741, NEK8-related, dominant Tags
Green Green List (high evidence)	NEK8 Renal Macrocystic Disease v2.1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Disease associations Polycystic kidney disease 8, MIM# 620903 Tags
Green Green List (high evidence)	NPHP1 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Nephronophthisis 1, juvenile, MIM# 256100 Tags SV/CNV
Green Green List (high evidence)	NPHP3 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Nephronophthisis 3, MIM# 604387 Renal-hepatic-pancreatic dysplasia 1, MIM# 208540 Tags
Green Green List (high evidence)	NPHP4 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996 Tags
Green Green List (high evidence)	OFD1 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Orofaciodigital syndrome I, MIM# 311200 Joubert syndrome 10, MIM# 300804 Tags
Green Green List (high evidence)	PDIA6 Renal Ciliopathies and Nephronophthisis v2.5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations multiple congenital anomalies, MONDO:0019042, PDIA6-related Tags
Green Green List (high evidence)	PKD1 Renal Macrocystic Disease v2.1	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Cystic v38.1.0 Disease associations Polycystic kidney disease 1, MIM# 173900 Tags
Green Green List (high evidence)	PKD2 Renal Macrocystic Disease v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Cystic v38.1.0 Disease associations Polycystic kidney disease 2, MIM#613095 AD Tags
Green Green List (high evidence)	PKHD1 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 Tags
Green Green List (high evidence)	PKHD1 Renal Macrocystic Disease v2.1	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Cystic v38.1.0 Disease associations Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 Tags
Green Green List (high evidence)	PMM2 Renal Macrocystic Disease v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related Tags 5'UTR
Green Green List (high evidence)	PRKCSH Renal Macrocystic Disease v2.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Cystic v38.1.0 Disease associations Polycystic liver disease 1, MIM# 174050, with or without kidney cysts Tags
Green Green List (high evidence)	PSKH1 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cholestasis, progressive familial intrahepatic, 13, MIM# 620962 Tags
Green Green List (high evidence)	RPGRIP1L Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Joubert syndrome 7, MIM# 611560 Meckel syndrome 5, MIM# 611561 COACH syndrome 3, MIM# 619113 Nephronophthisis Tags
Green Green List (high evidence)	SCLT1 Renal Ciliopathies and Nephronophthisis v2.5	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Disease associations Senior-Loken syndrome Bardet-Biedl syndrome Tags
Green Green List (high evidence)	SDCCAG8 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Bardet-Biedl syndrome 16, MIM# 615993 MONDO:0014444 Senior-Loken syndrome 7, MIM# 613615 MONDO:0013326 Nephronophthisis Tags
Green Green List (high evidence)	SEC63 Renal Macrocystic Disease v2.1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Polycystic liver disease 2, MIM#617004 Tags
Green Green List (high evidence)	SLC34A3 Renal Macrocystic Disease v2.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Hypophosphataemic rickets with hypercalciuria, (MIM#241530) Tags
Green Green List (high evidence)	TCTN2 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Joubert syndrome 24, MIM# 616654 MONDO:0014724 Meckel syndrome 8, MIM# 613885 MONDO:0013482 Tags
Green Green List (high evidence)	TCTN3 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Joubert syndrome 18, MIM# 614815 MONDO:0013896 Mohr-Majewski syndrome Meckel-Gruber syndrome Tags
Green Green List (high evidence)	TMEM138 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Joubert syndrome 16, MIM# 614465 MONDO:0013764 Tags
Green Green List (high evidence)	TMEM17 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Meckel syndrome MONDO:0018921, TMEM17-related Tags
Green Green List (high evidence)	TMEM216 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Joubert syndrome 2, MIM# 608091 Meckel syndrome 2, MIM# 603194 Tags
Green Green List (high evidence)	TMEM231 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Joubert syndrome 20, MIM# 614970 MONDO:0013994 Meckel syndrome 11, MIM# 615397 MONDO:0014164 Tags
Green Green List (high evidence)	TMEM237 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Joubert syndrome 14, MIM# 614424 Tags
Green Green List (high evidence)	TMEM67 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Nephronophthisis 11, MIM# 613550 Joubert syndrome 6, MIM# 610688 Meckel syndrome 3, MIM# 607361 Tags
Green Green List (high evidence)	TRAF3IP1 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Senior-Loken syndrome 9, MIM# 616629 MONDO:0014712 Tags
Green Green List (high evidence)	TSC1 Renal Macrocystic Disease v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Cystic v38.1.0 Disease associations Tuberous sclerosis-1, MIM#191100 Tags
Green Green List (high evidence)	TSC2 Renal Macrocystic Disease v2.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Cystic v38.1.0 Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Disease associations Tuberous sclerosis-2, MIM# 613254 Tags
Green Green List (high evidence)	TTC21B Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Nephronophthisis 12, MIM# 613820 Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819 Tags
Green Green List (high evidence)	TTC8 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Bardet-Biedl syndrome 8, MIM# 615985 Tags
Green Green List (high evidence)	TULP3 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Hepatorenocardiac degenerative fibrosis, MIM# 619902 Tags
Green Green List (high evidence)	TXNDC15 Renal Ciliopathies and Nephronophthisis v2.5	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert Review KidGen_CilioNephronop v38.1.0 Disease associations Meckel syndrome 14, MIM# 619879 Tags
Green Green List (high evidence)	UMOD Renal Macrocystic Disease v2.1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Cystic v38.1.0 Disease associations Tubulointerstitial kidney disease, autosomal dominant, 1, MIM# 162000 Tags
Green Green List (high evidence)	VHL Renal Macrocystic Disease v2.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations von Hippel-Lindau syndrome, MIM# 193300 Tags
Green Green List (high evidence)	WDPCP Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Bardet-Biedl syndrome 15, MIM# 615992 OFD Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Tags
Green Green List (high evidence)	WDR19 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Nephronophthisis 13, MIM# 614377 Senior-Loken syndrome 8, MIM# 616307 Tags
Green Green List (high evidence)	WDR35 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091 MONDO:0013569 Cranioectodermal dysplasia 2, MIM# 613610 Tags
Green Green List (high evidence)	XPNPEP3 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Disease associations Nephronophthisis-like nephropathy 1, OMIM #613159 Tags
Green Green List (high evidence)	ZNF423 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review KidGen_CilioNephronop v38.1.0 Disease associations Nephronophthisis 14, MIM# 614844 Tags
Amber Amber List (moderate evidence)	ADAMTS9 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related Tags
Amber Amber List (moderate evidence)	B9D2 Renal Ciliopathies and Nephronophthisis v2.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber KidGen_CilioNephronop v38.1.0 Disease associations Meckel syndrome 10, MIM# 614175 Tags
Amber Amber List (moderate evidence)	BICC1 Renal Macrocystic Disease v2.1	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Multicystic dysplastic kidney, MONDO:0015988 polycystic kidney disease, MONDO:0020642 Tags
Amber Amber List (moderate evidence)	CEP120 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber KidGen_CilioNephronop v38.1.0 Disease associations Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300 Tags
Amber Amber List (moderate evidence)	CEP41 Renal Ciliopathies and Nephronophthisis v2.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber KidGen_CilioNephronop v38.1.0 Disease associations Joubert syndrome 15, MIM# 614464 Tags
Amber Amber List (moderate evidence)	CILK1 Renal Ciliopathies and Nephronophthisis v2.5	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Endocrine-cerebroosteodysplasia, MIM# 612651 Cranioectodermal dysplasia 6, MIM# 621337 Tags
Amber Amber List (moderate evidence)	COL4A3 Renal Macrocystic Disease v2.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Alport syndrome MONDO:0018965 Tags
Amber Amber List (moderate evidence)	COL4A4 Renal Macrocystic Disease v2.1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Alport syndrome MONDO:0018965 Tags
Amber Amber List (moderate evidence)	COL4A5 Renal Macrocystic Disease v2.1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Disease associations Alport syndrome MONDO:0018965 Tags
Amber Amber List (moderate evidence)	DDX59 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review KidGen_CilioNephronop v38.1.0 Disease associations Orofaciodigital syndrome V (MIM#174300) Tags
Amber Amber List (moderate evidence)	SEC16B Renal Macrocystic Disease v2.1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Disease associations Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related Tags
Amber Amber List (moderate evidence)	TMEM107 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review KidGen_CilioNephronop v38.1.0 Disease associations Meckel syndrome 13 (MIM#617562) Orofaciodigital syndrome XVI (MIM#617563) Tags
Amber Amber List (moderate evidence)	TMEM72 Renal Ciliopathies and Nephronophthisis v2.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Nephronophthisis, MONDO:0019005, TMEM72-related Tags
Amber Amber List (moderate evidence)	UGGT1 Renal Macrocystic Disease v2.1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Congenital disorder of glycosylation, type IICC, MIM# 621381 Tags
Red Red List (low evidence)	ATXN10 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Disease associations Nephronophthisis Tags
Red Red List (low evidence)	C2CD3 Renal Ciliopathies and Nephronophthisis v2.5	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red KidGen_CilioNephronop v38.1.0 Disease associations Orofaciodigital syndrome XIV, MIM# 615948 Tags
Red Red List (low evidence)	CCDC28B Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 red	Other	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Disease associations {Bardet-Biedl syndrome 1, modifier of}, MIM#209900 Tags
Red Red List (low evidence)	CEP104 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Disease associations Joubert syndrome 25, MIM# 616781 MONDO:0014770 Tags
Red Red List (low evidence)	CFAP47 Renal Macrocystic Disease v2.1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Disease associations Cystic kidney disease MONDO:0002473 Tags disputed
Red Red List (low evidence)	CPLANE1 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Disease associations Joubert syndrome 17, MIM#614615 Orofaciodigital syndrome VI, MIM# 277170 Tags
Red Red List (low evidence)	DYNC2I2 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633 Tags
Red Red List (low evidence)	EVC Renal Ciliopathies and Nephronophthisis v2.5	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Red KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Ellis-van Creveld syndrome, MIM#225500 Tags
Red Red List (low evidence)	EVC2 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Disease associations Ellis van Creveld syndrome Tags
Red Red List (low evidence)	FOXC1 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 2 red	Unknown	Sources Expert Review Red Expert Review Red KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Axenfeld-Rieger syndrome, type 3, MIM#602482 Tags
Red Red List (low evidence)	HYLS1 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list KidGen_CilioNephronop v38.1.0 Disease associations Hydrolethalus syndrome (MIM#236680) Joubert syndrome Tags founder
Red Red List (low evidence)	IFT57 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 red	Unknown	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Disease associations Orofaciodigital syndrome XVIII, MIM#617927 Tags
Red Red List (low evidence)	IFT81 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Disease associations Short-rib thoracic dysplasia 19 with or without polydactyly OMIM #617895 Tags
Red Red List (low evidence)	KATNIP Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Disease associations Joubert syndrome 26, MIM# 616784 Tags
Red Red List (low evidence)	KIAA0586 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546 Joubert syndrome 23, MIM# 616490 Tags
Red Red List (low evidence)	KIAA0753 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Expert list KidGen_CilioNephronop v38.1.0 Disease associations Short-rib skeletal dysplasia Orofaciodigital syndrome XV, MIM# 617127 Jeune ATD Tags
Red Red List (low evidence)	KIF14 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 red	Unknown	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Tags
Red Red List (low evidence)	KIF7 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Acrocallosal syndrome, MIM# 200990 Joubert syndrome 12, MIM# 200990 Tags
Red Red List (low evidence)	LRP5 Renal Macrocystic Disease v2.1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations Polycystic liver disease 4 with or without kidney cysts, MIM# 617875 Tags
Red Red List (low evidence)	PDE6D Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Red KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Joubert syndrome 22, OMIM #615665 Tags
Red Red List (low evidence)	POC1B Renal Ciliopathies and Nephronophthisis v2.5	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Expert Review Red KidGen_CilioNephronop v38.1.0 Disease associations Cone-rod dystrophy 20, MIM#615973 Tags
Red Red List (low evidence)	SLC41A1 Renal Ciliopathies and Nephronophthisis v2.5	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Disease associations Nephronophthisis-like nephropathy 2, MIM# 619468 Tags
Red Red List (low evidence)	TCTN1 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Disease associations Joubert syndrome 13, MIM# 614173 Tags
Red Red List (low evidence)	TRIM32 Renal Ciliopathies and Nephronophthisis v2.5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Disease associations Bardet-Biedl syndrome 11, MIM# 615988 Tags

Renal Cystic Disease_SuperPanel (Version 2.6)

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135 reviewed, 97 green

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