Ciliary Dyskinesia

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

1 review

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

25 May 2020, 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).

25 May 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CFTR were changed from Disseminated bronchiectasis to Cystic fibrosis; bronchiectasis

25 May 2020, 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).

25 May 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

gene: CFTR was added gene: CFTR was added to Ciliary Dyskinesia. Sources: Expert list Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFTR were set to Disseminated bronchiectasis Review for gene: CFTR was set to GREEN