Genomics England

Genes and Entities

Familial chylomicronaemia syndrome (FCS) (Version: )

Relevant disorders: Lipoprotein lipase deficiency, R324

Signed off date: 22 Mar 2023

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

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8 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	APOA5	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	APOC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APOE	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CREB3L3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GPD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPIHBP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LPL	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A