Genomics England

Genes and Entities

Inherited phaeochromocytoma and paraganglioma excluding NF1 (Version: )

Relevant disorders: R223

Signed off date: 30 Nov 2022

Panel types: GMS Rare Disease, GMS signed-off

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14 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	DLST	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FH	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAX	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MDH2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MEN1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RET	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	SDHA	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SDHAF2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SDHB	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SDHC	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SDHD	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	N/A	N/A
Green	SLC25A11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TMEM127	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	VHL	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A