Genomics England

Genes and Entities

Amyloidosis (Version: )

There is a more recent signed-off version of this panel

Relevant disorders: R204

Signed off date: 13 Feb 2020

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

See this panel in PanelApp

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