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Pneumothorax

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Has been reported as one of the lung finds of CF. The incidence of pneumothorax among patients with CF has been reported as ~2% in children and ~3% in all ages.
Sources: Expert list
Created: 31 Oct 2022, 12:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cystic fibrosis MONDO:0009061

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 31 Oct 2022, 12:07 a.m.

Panel version: 0.9

History Filter Activity

31 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

31 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

31 Oct 2022, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CFTR was added gene: CFTR was added to Pneumothorax. Sources: Expert list Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFTR were set to 30681372; 17056865; 16100160; 2919902 Phenotypes for gene: CFTR were set to Cystic fibrosis MONDO:0009061 Review for gene: CFTR was set to GREEN gene: CFTR was marked as current diagnostic