Genomics England

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

Relevant disorders: R175

Signed off date: 3 Mar 2020

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

3 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	CFTR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRSS1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	cnv
Green	SPINK1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A