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  3. CFTR
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Familial pulmonary fibrosis

Gene: CFTR

Red List (low evidence)
CFTR (cystic fibrosis transmembrane conductance regulator)
EnsemblGeneIds (GRCh38): ENSG00000001626
EnsemblGeneIds (GRCh37): ENSG00000001626
OMIM: 602421, Gene2Phenotype
CFTR is in 16 panels

2 reviews

Philip Molyneaux (Imperial College)

Red List (low evidence)

CF not fibrosis
Created: 26 Apr 2017, 9:50 a.m.
Created: 26 Apr 2017, 9:50 a.m.

Panel version: 0.110

Alice Gardham (Genomics England)

Comment when marking as ready: Chronic infection and emphysema rather than fibrosis -incorrect phenotype
Created: 9 Feb 2017, 10:29 a.m.
Created: 9 Feb 2017, 10:29 a.m.

Panel version: 0.69

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017

27 Apr 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CFTR were set to Cystic fibrosis

9 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CFTR was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CFTR was created by ellenmcdonagh