Genomics England

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

Relevant disorders: Familial Pneumothorax, Familial Primary Spontaneous Pneumothorax, R190

Signed off date: 3 Mar 2020

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

10 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	COL3A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBN1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FLCN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	deletions
Green	SERPINA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TGFB2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGFB3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGFBR1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGFBR2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TSC1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TSC2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A