1. Panels
  2. Renal Macrocystic Disease

Renal Macrocystic Disease (Version 0.77)

Level 2: Renal and urinary tract disorders

Relevant disorders: Renal cyst, HP:0000107
Panel types: Victorian Clinical Genetics Services, KidGen, Genetic Health Queensland, Royal Melbourne Hospital, Rare Disease
Description
This panel is developed was developed and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.

This panel contains genes that cause macrocystic kidney disease. Many of the disorders also have a polycystic liver disease, either as the predominant phenotype or in association with primary kidney cysts.
Panel Activity

8 reviewers

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Lauren Rogers (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Michelle Torres (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

26 Entities

23 reviewed, 24 green

List Entity Reviews Mode of inheritance Details
26 Entitiess
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 List (high evidence)
ALG8
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Polycystic liver disease 3 with or without kidney cysts, MIM# 617874
Tags
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 List (high evidence)
COL4A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773
Tags
Green List (high evidence)
COL4A3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Alport syndrome MONDO:0018965
Tags
Green List (high evidence)
COL4A4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Alport syndrome MONDO:0018965
Tags
Green List (high evidence)
COL4A5
1 review
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 Green
  • Literature
Phenotypes
  • Alport syndrome MONDO:0018965
Tags
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 list
  • Expert Review Green
Phenotypes
  • Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061
  • Ivermark II syndrome.
Tags
Green List (high evidence)
DZIP1L
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Polycystic kidney disease 5, MIM#617610
Tags
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 List (high evidence)
HNF1B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green List (high evidence)
IFT140
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cystic Kidney Disease, MONDO# 0002473
Tags
Green List (high evidence)
MUC1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
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 List (high evidence)
PKD1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Phenotypes
  • Polycystic kidney disease 1, MIM# 173900
Tags
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 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 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 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 List (high evidence)
SEC63
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Polycystic liver disease 2, MIM#617004
Tags
Green List (high evidence)
TSC1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green List (high evidence)
TSC2
2 reviews
1 green 		Unknown
Sources
  • Australian Genomics Health Alliance Brain Malformations Flagship
  • Expert Review Green
  • KidGen_Cystic v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
UMOD
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green List (high evidence)
VHL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • von Hippel-Lindau syndrome, MIM# 193300
Tags
Amber List (moderate evidence)
SEC16B
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related
Tags
Red List (low evidence)
LRP5
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Polycystic liver disease 4 with or without kidney cysts, MIM# 617875
Tags

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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