Genomics England

Genes and Entities

Inherited polyposis and early onset colorectal cancer - germline testing (Version: )

Relevant disorders: Inherited polyposis, R211

Signed off date: 30 Nov 2022

Panel types: GMS Rare Disease, GMS signed-off

See this panel in PanelApp

15 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	APC	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BMPR1A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EPCAM	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MLH1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MSH2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MSH6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MUTYH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NTHL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMS2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	POLD1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	POLE	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTEN	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RNF43	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMAD4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	STK11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A