Genomics England

Genes and Entities

Non-acute porphyrias (Version: )

Relevant disorders: R168

Signed off date: 15 Oct 2020

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	ALAD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALAS2	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	CPOX	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FECH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMBS	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PPOX	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	UROD	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	UROS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A