Genomics England

Genes and Entities

Hereditary systemic amyloidosis (Version: )

Relevant disorders: Amyloidosis, R204

Signed off date: 22 Mar 2023

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

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7 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	APOA1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	APOA2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	APOC2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	missense
Green	FGA	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GSN	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	LYZ	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TTR	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	treatable