PanelApp
  1. Panels
  2. Renal Cystic Disease_SuperPanel
Description
This panel combines the lists for macro cystic and micro cystic renal disease (nephronophthisis)

128 Entities

125 reviewed, 90 green

List Entity Reviews Mode of inheritance Details
128 Entitiess
Green Green List (high evidence)
AHI1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 3, MIM#608629
Tags
Green Green List (high evidence)
ALG5
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Polycystic kidney disease 7, MIM# 620056
  • Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline
Tags
Green Green List (high evidence)
ALG8
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Polycystic liver disease 3 with or without kidney cysts, MIM# 617874
Tags
Green Green List (high evidence)
ALG9
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis 16, MIM# 615382
  • MONDO:0014158
Tags
Green Green List (high evidence)
ARL13B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Joubert syndrome 8, MIM# 612291
Tags
Green Green List (high evidence)
ARL6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 3, MIM# 600151
Tags
Green Green List (high evidence)
B9D1
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Ciliopathy, MONDO:0005308, B9D1-related
Tags
Green Green List (high evidence)
BBIP1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 18, MIM#615995
Tags
Green Green List (high evidence)
BBS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 1, MIM# 209900
Tags
Green Green List (high evidence)
BBS10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 10, MIM# 615987
Tags
Green Green List (high evidence)
BBS12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 12, MIM# 615989
Tags
Green Green List (high evidence)
BBS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 2, MIM# 615981
Tags
Green Green List (high evidence)
BBS4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 4, MIM#615982
  • MONDO:0014433
Tags
Green Green List (high evidence)
BBS5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 5, MIM#615983
  • MONDO:0014434
Tags
Green Green List (high evidence)
BBS7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 7, MIM# 615984
  • MONDO:0014435
Tags
Green Green List (high evidence)
BBS9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 9, MIM#615986
  • MONDO:0014437
Tags
Green Green List (high evidence)
CC2D2A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Meckel syndrome 6, MIM# 612284
Tags
Green Green List (high evidence)
CEP164
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome
  • Nephronophthisis 15, MIM# 614845
  • Oro-facio-digital syndrome
Tags
Green Green List (high evidence)
CEP290
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Senior-Loken syndrome 6, MIM# 610189
Tags
Green Green List (high evidence)
CEP83
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis 18, MIM# 615862
  • MONDO:0014374
  • Retinal dystrophy
  • ID
Tags
Green Green List (high evidence)
COL4A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773
Tags
Green Green List (high evidence)
CRB2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ventriculomegaly with cystic kidney disease, MIM# 219730
Tags
Green Green List (high evidence)
CSPP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Joubert syndrome 21, MIM# 615636
  • MONDO:0014288
Tags
Green Green List (high evidence)
DCDC2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis 19, MIM# 616217
Tags
Green Green List (high evidence)
DLG5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Yuksel-Vogel-Bauer syndrome, MIM#620703
Tags
Green Green List (high evidence)
DNAJB11
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
Phenotypes
  • Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061
  • Ivermark II syndrome.
Tags
Green Green List (high evidence)
DYNC2H1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091
  • MONDO:0013127MONDO:0013127
Tags
Green Green List (high evidence)
DZIP1L
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polycystic kidney disease 5, MIM#617610
Tags
Green Green List (high evidence)
FAN1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Interstitial nephritis, karyomegalic, MIM# 614817
Tags
Green Green List (high evidence)
FLCN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Birt-Hogg-Dube syndrome, MIM# 135150
Tags
Green Green List (high evidence)
GANAB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Phenotypes
  • Polycystic kidney disease 3, MIM# 600666
Tags
Green Green List (high evidence)
GLIS2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis 7, OMIM#611498
  • MONDO:0012680
Tags
Green Green List (high evidence)
HNF1B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green Green List (high evidence)
IFT122
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Cranioectodermal dysplasia 1, MIM# 218330
  • MONDO:0021093
Tags
Green Green List (high evidence)
IFT140
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • {Polycystic kidney disease 9, susceptibility to} MIM#621164
Tags
Green Green List (high evidence)
IFT140
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • 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)
IFT172
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 20, MIM# 619471
  • Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Tags
Green Green List (high evidence)
IFT27
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 19, MIM#615996
Tags
Green Green List (high evidence)
IFT43
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866
  • Cranioectodermal dysplasia 3, MIM# 614099
Tags
Green Green List (high evidence)
IFT74
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 20 617119
Tags
Green Green List (high evidence)
INPP5E
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Joubert syndrome 1, MIM# 213300
  • MONDO:0008944
Tags
Green Green List (high evidence)
INVS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis 2, infantile, (MIM#602088)
Tags
Green Green List (high evidence)
IQCB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Senior-Loken syndrome 5, MIM# 609254
  • MONDO:0012225
Tags
Green Green List (high evidence)
LZTFL1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 17 (MIM#615994)
Tags
Green Green List (high evidence)
MAPKBP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis 20, MIM# 617271
  • MONDO:0014997
Tags
Green Green List (high evidence)
MKKS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 6 (MIM#605231)
  • McKusick-Kaufman syndrome, MIM# 236700
Tags
Green Green List (high evidence)
MKS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 13, MIM# 615990
  • MONDO:0014441
  • Meckel syndrome 1, MIM# 249000
Tags
Green Green List (high evidence)
MUC1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green Green List (high evidence)
NEK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Tags
Green Green List (high evidence)
NEK8
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Polycystic kidney disease 8, MIM# 620903
Tags
Green Green List (high evidence)
NEK8
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Renal-hepatic-pancreatic dysplasia 2, MIM# 615415
  • MONDO:0014174
  • Familial renal cystic disease MONDO:0019741, NEK8-related, dominant
Tags
Green Green List (high evidence)
NPHP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis 1, juvenile, MIM# 256100
Tags
  • SV/CNV
Green Green List (high evidence)
NPHP3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis 3, MIM# 604387
  • Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
Tags
Green Green List (high evidence)
NPHP4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis 4, MIM# 606966
  • Senior-Loken syndrome 4, MIM# 606996
Tags
Green Green List (high evidence)
OFD1
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
Phenotypes
  • Orofaciodigital syndrome I, MIM# 311200
  • Joubert syndrome 10, MIM# 300804
Tags
Green Green List (high evidence)
PDIA6
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • multiple congenital anomalies, MONDO:0019042, PDIA6-related
Tags
Green Green List (high evidence)
PKD1
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
Phenotypes
  • Polycystic kidney disease 1, MIM# 173900
Tags
Green Green List (high evidence)
PKD2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Phenotypes
  • Polycystic kidney disease 2, MIM#613095 AD
Tags
Green Green List (high evidence)
PKHD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
Tags
Green Green List (high evidence)
PKHD1
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
Phenotypes
  • Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
Tags
Green Green List (high evidence)
PMM2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related
Tags
  • 5'UTR
Green Green List (high evidence)
PRKCSH
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Phenotypes
  • Polycystic liver disease 1, MIM# 174050, with or without kidney cysts
Tags
Green Green List (high evidence)
PSKH1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cholestasis, progressive familial intrahepatic, 13, MIM# 620962
Tags
Green Green List (high evidence)
RPGRIP1L
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 7, MIM# 611560
  • Meckel syndrome 5, MIM# 611561
  • COACH syndrome 3, MIM# 619113
  • Nephronophthisis
Tags
Green Green List (high evidence)
SCLT1
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Senior-Loken syndrome
  • Bardet-Biedl syndrome
Tags
Green Green List (high evidence)
SDCCAG8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 16, MIM# 615993
  • MONDO:0014444
  • Senior-Loken syndrome 7, MIM# 613615
  • MONDO:0013326
  • Nephronophthisis
Tags
Green Green List (high evidence)
SEC63
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polycystic liver disease 2, MIM#617004
Tags
Green Green List (high evidence)
TCTN2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 24, MIM# 616654
  • MONDO:0014724
  • Meckel syndrome 8, MIM# 613885
  • MONDO:0013482
Tags
Green Green List (high evidence)
TCTN3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 18, MIM# 614815
  • MONDO:0013896
  • Mohr-Majewski syndrome
  • Meckel-Gruber syndrome
Tags
Green Green List (high evidence)
TMEM138
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 16, MIM# 614465
  • MONDO:0013764
Tags
Green Green List (high evidence)
TMEM17
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Meckel syndrome MONDO:0018921, TMEM17-related
Tags
Green Green List (high evidence)
TMEM216
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 2, MIM# 608091
  • Meckel syndrome 2, MIM# 603194
Tags
Green Green List (high evidence)
TMEM231
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 20, MIM# 614970
  • MONDO:0013994
  • Meckel syndrome 11, MIM# 615397
  • MONDO:0014164
Tags
Green Green List (high evidence)
TMEM237
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Joubert syndrome 14, MIM# 614424
Tags
Green Green List (high evidence)
TMEM67
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephronophthisis 11, MIM# 613550
  • Joubert syndrome 6, MIM# 610688
  • Meckel syndrome 3, MIM# 607361
Tags
Green Green List (high evidence)
TRAF3IP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Senior-Loken syndrome 9, MIM# 616629
  • MONDO:0014712
Tags
Green Green List (high evidence)
TSC1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green Green List (high evidence)
TSC2
2 reviews
1 green 		Unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • KidGen_Cystic v38.1.0
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Tags
Green Green List (high evidence)
TTC21B
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis 12, MIM# 613820
  • Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819
Tags
Green Green List (high evidence)
TTC8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 8, MIM# 615985
Tags
Green Green List (high evidence)
TULP3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hepatorenocardiac degenerative fibrosis, MIM# 619902
Tags
Green Green List (high evidence)
TXNDC15
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Meckel syndrome 14, MIM# 619879
Tags
Green Green List (high evidence)
UMOD
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green Green List (high evidence)
VHL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • von Hippel-Lindau syndrome, MIM# 193300
Tags
Green Green List (high evidence)
WDPCP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 15, MIM# 615992
  • OFD
  • Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Tags
Green Green List (high evidence)
WDR19
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephronophthisis 13, MIM# 614377
  • Senior-Loken syndrome 8, MIM# 616307
Tags
Green Green List (high evidence)
WDR35
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091
  • MONDO:0013569
  • Cranioectodermal dysplasia 2, MIM# 613610
Tags
Green Green List (high evidence)
WDR60
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503
Tags
Green Green List (high evidence)
XPNPEP3
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis-like nephropathy 1, OMIM #613159
Tags
Amber Amber List (moderate evidence)
ADAMTS9
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related
Tags
Amber Amber List (moderate evidence)
B9D2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Meckel syndrome 10, MIM# 614175
Tags
Amber Amber List (moderate evidence)
CEP120
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Tags
Amber Amber List (moderate evidence)
CEP41
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Joubert syndrome 15, MIM# 614464
Tags
Amber Amber List (moderate evidence)
CFAP47
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cystic kidney disease MONDO:0002473
Tags
Amber Amber List (moderate evidence)
COL4A3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Alport syndrome MONDO:0018965
Tags
Amber Amber List (moderate evidence)
COL4A4
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Alport syndrome MONDO:0018965
Tags
Amber Amber List (moderate evidence)
COL4A5
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
Phenotypes
  • Alport syndrome MONDO:0018965
Tags
Amber Amber List (moderate evidence)
CYS1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Polycystic kidney disease, MONDO:0020642
Tags
Amber Amber List (moderate evidence)
DDX59
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Orofaciodigital syndrome V (MIM#174300)
Tags
Amber Amber List (moderate evidence)
ICK
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Endocrine-cerebroosteodysplasia, MIM# 612651
  • Cranioectodermal dysplasia 6, MIM# 621337
Tags
Amber Amber List (moderate evidence)
SEC16B
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related
Tags
Amber Amber List (moderate evidence)
TMEM107
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Meckel syndrome 13 (MIM#617562)
  • Orofaciodigital syndrome XVI (MIM#617563)
Tags
Amber Amber List (moderate evidence)
UGGT1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IICC, MIM# 621381
Tags
Amber Amber List (moderate evidence)
ZNF423
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Joubert syndrome 19, OMIM# 614844
Tags
Red Red List (low evidence)
ATXN10
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis
Tags
Red Red List (low evidence)
C2CD3
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Orofaciodigital syndrome XIV, MIM# 615948
Tags
Red Red List (low evidence)
C5orf42
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Joubert syndrome 17, MIM#614615
  • Orofaciodigital syndrome VI, MIM# 277170
Tags
Red Red List (low evidence)
CCDC28B
1 review
1 red 		Other
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • {Bardet-Biedl syndrome 1, modifier of}, MIM#209900
Tags
Red Red List (low evidence)
CEP104
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Joubert syndrome 25, MIM# 616781
  • MONDO:0014770
Tags
Red Red List (low evidence)
EVC
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
Phenotypes
  • Ellis-van Creveld syndrome, MIM#225500
Tags
Red Red List (low evidence)
EVC2
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Ellis van Creveld syndrome
Tags
Red Red List (low evidence)
FOXC1
2 reviews
2 red 		Unknown
Sources
  • Expert Review Red
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Axenfeld-Rieger syndrome, type 3, MIM#602482
Tags
Red Red List (low evidence)
HYLS1
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Hydrolethalus syndrome (MIM#236680)
  • Joubert syndrome
Tags
  • founder
Red Red List (low evidence)
IFT57
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Orofaciodigital syndrome XVIII, MIM#617927
Tags
Red Red List (low evidence)
IFT81
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Short-rib thoracic dysplasia 19 with or without polydactyly
  • OMIM #617895
Tags
Red Red List (low evidence)
KIAA0556
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Joubert syndrome 26, MIM# 616784
Tags
Red Red List (low evidence)
KIAA0586
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546
  • Joubert syndrome 23, MIM# 616490
Tags
Red Red List (low evidence)
KIAA0753
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Expert list
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Short-rib skeletal dysplasia
  • Orofaciodigital syndrome XV, MIM# 617127
  • Jeune ATD
Tags
Red Red List (low evidence)
KIF14
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Tags
Red Red List (low evidence)
KIF7
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Acrocallosal syndrome, MIM# 200990
  • Joubert syndrome 12, MIM# 200990
Tags
Red Red List (low evidence)
LRP5
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Polycystic liver disease 4 with or without kidney cysts, MIM# 617875
Tags
Red Red List (low evidence)
PDE6D
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 22, OMIM #615665
Tags
Red Red List (low evidence)
POC1B
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Cone-rod dystrophy 20, MIM#615973
Tags
Red Red List (low evidence)
SLC41A1
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis-like nephropathy 2, MIM# 619468
Tags
Red Red List (low evidence)
TCTN1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 13, MIM# 614173
Tags
Red Red List (low evidence)
TRIM32
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 11, MIM# 615988
Tags
Red Red List (low evidence)
WDR34
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633
Tags

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