Genomics England

Genes and Entities

Hereditary Erythrocytosis (Version: )

Relevant disorders: R405

Signed off date: 6 May 2026

Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off

See this panel in PanelApp

11 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	BPGM	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	EGLN1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EPAS1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	EPO	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EPOR	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HBA1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HBA2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HBB	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-therapy-trial
Green	JAK2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	somatic
Green	SLC30A10	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	VHL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A