Interstitial Lung Disease

Gene: CFTR

Green List (high evidence)

CFTR (cystic fibrosis transmembrane conductance regulator)
EnsemblGeneIds (GRCh38): ENSG00000001626
EnsemblGeneIds (GRCh37): ENSG00000001626
OMIM: 602421, Gene2Phenotype
CFTR is in 17 panels

3 reviews

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

Well established gene-disease association.
Created: 5 Nov 2021, 7:56 a.m. | Last Modified: 5 Nov 2021, 7:56 a.m.
Panel Version: 0.183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cystic fibrosis

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 29 Oct 2021, 3:57 a.m. | Last Modified: 29 Oct 2021, 3:57 a.m.
Panel Version: 0.127

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cystic fibrosis, MIM# 219700

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

CFTR-related disease features recurrent bronchial infection.

GREEN
Sources: Expert list
Created: 25 May 2020, 1:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Disseminated bronchiectasis

History Filter Activity

29 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cftr has been classified as Green List (High Evidence).

29 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CFTR were changed from to Cystic fibrosis, MIM# 219700

29 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CFTR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CFTR was added gene: CFTR was added to Interstitial Lung Disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CFTR was set to Unknown