Genomics England

Genes and Entities

Polycystic liver disease (Version: )

Relevant disorders: Polycystic liver disease interim, R173

Signed off date: 22 Mar 2023

Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off

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9 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ALG8	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DNAJB11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GANAB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	LRP5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PKD1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PKD2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PKHD1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PRKCSH	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SEC63	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A