Genomics England

Relevant disorders: R254, GT402, TP483

Signed off date: 12 Aug 2026

Panel types: GMS Rare Disease, GMS signed-off

4 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	BAP1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDK4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDKN2A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	POT1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A