PanelApp (stage)
  1. Panels
  2. Polycystic liver disease
Description
This panel was developed by GHQ and is a consensus panel used by VCGS.
Panel Activity

3 reviewers

  • Elena Savva (Victorian Clinical Genetics Services)

  • Chern Lim (Victorian Clinical Genetics Services)

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

13 Entities

13 reviewed, 10 green

List Entity Reviews Mode of inheritance Details
13 Entitiess
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 list
  • Expert Review Green
Phenotypes
  • Polycystic liver disease 3 with or without kidney cysts, MIM# 617874
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 list
  • Expert Review Green
Phenotypes
  • Polycystic kidney disease 6 with or without polycystic liver disease (618061)
  • Ivermark II syndrome
Tags
Green Green List (high evidence)
GANAB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Polycystic kidney disease 3 (600666)
Tags
Green Green List (high evidence)
LRP5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Polycystic liver disease 4 with or without kidney cysts (617875)
Tags
Green Green List (high evidence)
PKD1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Polycystic Kidney Disease 1 with or without polycystic liver disease (173900)
Tags
Green Green List (high evidence)
PKD2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Polycystic Kidney Disease 2 with or without polycystic liver disease (613095)
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 list
  • Expert Review Green
Phenotypes
  • Polycystic kidney disease 4 with or without hepatic disease (263200)
Tags
Green Green List (high evidence)
PRKCSH
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Polycystic Liver Disease 1 with or without kidney cysts (174050)
Tags
Green Green List (high evidence)
SEC63
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Polycystic Liver Disease 2 with or without kidney cysts (617004)
Tags
Amber Amber List (moderate evidence)
ALG9
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Polycystic liver and kidney disease
Tags
Amber Amber List (moderate evidence)
SEC16B
1 review
 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
Amber Amber List (moderate evidence)
SEC61B
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Polycystic liver disease with or without renal cysts
Tags

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