Interstitial Lung Disease
Gene: CFTR
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
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
CFTR-related disease features recurrent bronchial infection.
GREEN
Sources: Expert listCreated: 25 May 2020, 1:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Disseminated bronchiectasis
Gene: cftr has been classified as Green List (High Evidence).
Phenotypes for gene: CFTR were changed from to Cystic fibrosis, MIM# 219700
Mode of inheritance for gene: CFTR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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