Genomics England

There is a more recent signed-off version of this panel

Relevant disorders: R208

Signed off date: 22 Mar 2023

Panel types: GMS Rare Disease, GMS signed-off

5 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ATM	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BRCA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	BRCA2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHEK2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PALB2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A