Polycystic liver disease (Version 1.8)

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
Filter Entities 13 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 list Expert Review Green Phenotypes Polycystic liver disease 3 with or without kidney cysts, MIM# 617874 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 (618061) Ivermark II syndrome Tags
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 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 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 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 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 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 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 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 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 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

Major version comments

2022-06-28 01:52 Bryony Thompson (Royal Melbourne Hospital) promoted panel to 1.0
The panel is fully reviewed

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