Non-CF bronchiectasis

Gene: CFTR

Green List (high evidence)

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)

Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 14 May 2018, 9:27 a.m.
Comment on list classification: Discussed internally as a group, and decided to keep this gene as green, as variants may have been missed in prior genetic testing.
Created: 10 May 2016, 7:43 a.m.

Anthony De Soyza (NEWCASTLE university/ freeman hospital bronchiectasis service)

Red List (low evidence)

Expected to be excluded but referring clinicians may not have already requested CFTR assessment- Important to stress late diagnosed CF is seen in "non CF bronchiectasis" even at aged 70+
Created: 17 Oct 2015, 7:01 p.m.
By definition non CF bronchiectasis will exclude CF gene mutations
Created: 17 Oct 2015, 6:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cystic fibrosis, 219700
  • Congenital bilateral absence of vas deferens, 277180
  • Sweat chloride elevation without CF
  • {Pancreatitis, idiopathic}, 167800
  • {Hypertrypsinemia, neonatal}
  • {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400
  • Cystic Fibrosis
  • Bronchiectasis
Tags
gene-therapy-trial
OMIM
602421
Clinvar variants
Variants in CFTR
Penetrance
Complete
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

10 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CFTR were set to Cystic fibrosis, 219700;Congenital bilateral absence of vas deferens, 277180;Sweat chloride elevation without CF;{Pancreatitis, idiopathic}, 167800;{Hypertrypsinemia, neonatal};{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400; Cystic Fibrosis; Bronchiectasis

10 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CFTR were set to

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

12 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CFTR was added to Non-CF bronchiectasispanel. Sources: Eligibility statement prior genetic testing

28 May 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CFTR was added to Non-CF bronchiectasispanel. Sources: Eligibility Statements for GeL

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

CFTR was added to Non-CF bronchiectasispanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

CFTR was added to Non-CF bronchiectasispanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CFTR was added to Non-CF bronchiectasispanel. Sources: Radboud University Medical Center, Nijmegen