Genomics England

Genes and Entities

Atypical haemolytic uraemic syndrome (Version: )

Relevant disorders: R201

Signed off date: 5 Sept 2024

Panel types: Rare Disease 100K, GMS Rare Disease Virtual, 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	C3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	CD46	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CFB	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	CFH	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CFHR1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CFHR3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CFI	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DGKE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMACHC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A