Genomics England

Genes and Entities

Long QT syndrome (Version: )

Relevant disorders: Long QT, R127

Signed off date: 30 Oct 2024

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

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9 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	CACNA1C	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CALM1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CALM2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CALM3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNE1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	KCNH2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNJ2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNQ1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SCN5A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A