Genomics England

Genes and Entities

Thrombocythaemia (Version: )

Relevant disorders: R406

Signed off date: 6 May 2026

Panel types: GMS Rare Disease, GMS signed-off

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4 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	JAK2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	somatic
Green	MPL	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SH2B3	BIALLELIC, autosomal or pseudoautosomal	N/A	somatic
Green	THPO	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A