Additional findings health related

Gene: CFTR

No list

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: A seperate panel will be used for analysis of this gene.
Created: 14 Oct 2019, 4:11 p.m. | Last Modified: 14 Oct 2019, 4:11 p.m.
Panel Version: 0.76

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Clinically relevant transcript NM_000492.3
Created: 21 May 2018, 3:53 p.m.

History Filter Activity

27 Jan 2020, Gel status: 0

Set transcript

Catherine Snow (Genomics England)

Transcript for gene CFTR was changed from NM_000492.3 to ENST00000003084.10; NM_000492.3

27 Jan 2020, Gel status: 0

Removed Source, Added New Source, Set transcript

Catherine Snow (Genomics England)

Source Carrier Status was removed from CFTR. Source Expert Review was added to CFTR. Transcript for gene CFTR was changed from None to NM_000492.3

14 Oct 2019, Gel status: 0

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: cftr has been removed from the panel.

14 Oct 2019, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: CFTR were changed from NST00000003084.10; Carrier status; Cystic Fibrosis; Adult-only to ENST00000003084.10; Carrier status; Cystic Fibrosis; Adult-only

14 Oct 2019, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: CFTR were changed from NM_000492.3; Carrier status; Cystic Fibrosis; Adult-only to NST00000003084.10; Carrier status; Cystic Fibrosis; Adult-only

14 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

10 Oct 2019, Gel status: 0

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: cftr has been removed from the panel.

21 May 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CFTR were set to NM_000492.3; Carrier status; Cystic Fibrosis; Adult-only

3 Apr 2018, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CFTR were set to Carrier status; Cystic Fibrosis; Adult-only

3 Apr 2018, Gel status: 3

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for CFTR was changed to None

3 Apr 2018, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CFTR were set to Carrier status; Cystic Fibrosis

3 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Apr 2018, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

3 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CFTR was added to Genomics England Secondary Findings panel. Sources: Carrier Status

3 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

CFTR was created by Ellen McDonagh