Genomics England

Genes and Entities

Pneumothorax - familial (Version: )

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

Signed off date: 22 Mar 2023

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

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10 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	COL3A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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