Genomics England

Genes and Entities

Arrhythmogenic right ventricular cardiomyopathy (Version: )

Relevant disorders: Arrhythmogenic cardiomyopathy, R133

Signed off date: 22 Mar 2023

Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off

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10 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	DES	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DSC2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DSG2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DSP	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FLNC	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	JUP	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LMNA	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PKP2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PLN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	founder-effect
Green	TMEM43	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A