Genomics England

Genes and Entities

Progressive cardiac conduction disease (Version: )

Relevant disorders: R328

Signed off date: 3 Oct 2024

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

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11 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	EMD	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GLA	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HCN4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LAMP2	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	LMNA	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NKX2-5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRKAG2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCN5A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TNNI3K	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TTR	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A