Genomics England

Pulmonary fibrosis familial (Version: )

Relevant disorders: R421

Signed off date: 30 Nov 2022

Panel types: GMS Rare Disease, GMS signed-off

25 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ABCA3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACD	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AP3B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSF2RA	BIALLELIC, autosomal or pseudoautosomal	N/A	Pseudoautosomal region 1
Green	CSF2RB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DKC1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HPS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HPS4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	MUC5B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	promoter
Green	NAF1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	NHP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NKX2-1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NOP10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PARN	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RTEL1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SFTPA1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SFTPA2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SFTPB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SFTPC	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TERC	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TERT	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TINF2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZCCHC8	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A

Pulmonary fibrosis familial (Version: 1.3)

Pulmonary fibrosis familial (Version: )