CFTR

cystic fibrosis transmembrane conductance regulator
OMIM: 602421, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green CFTR in Non-CF bronchiectasis

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.26

review 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

Green CFTR in Gene therapy clinical trials

Level 3: Clinical trials
Level 2: Actionable information
Version 0.7

review Not set
Sources
  • Expert Review Green
  • ClinicalTrials.gov
Phenotypes
  • Cystic Fibrosis

No list CFTR in Additional findings health related


Version 0.110

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Removed
Phenotypes
  • ENST00000003084.10
  • Carrier status
  • Cystic Fibrosis
  • Adult-only
Tags
  • adult-onset
  • curated_removed

Green CFTR in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.23

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Neonatal and Adult Cholestasis
  • Cholestasis
  • Cystic fibrosis, 219700
  • Pancreatitis, 167800

Green CFTR in COVID-19 research


Level 2: Viral research
Version 1.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Congenital defects of phagocyte number or function
  • Cystic fibrosis, 219700
  • Respiratory infections, pancreatic insufficiency, elevated sweat chloride

Red CFTR in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.19

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Cystic fibrosis

Red CFTR in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.15

review Not set
Sources
  • Emory Genetics Laboratory

Amber CFTR in Cholestasis


Version 1.103
Latest signed off version: v1.21 (20 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Cholestasis
  • Neonatal and Adult Cholestasis
  • Cystic fibrosis, OMIM:219700, MONDO:0009061
  • {Pancreatitis, hereditary}, OMIM:167800
Tags
  • for-review
  • Q4_21_NHS_review

Amber CFTR in Primary immunodeficiency


Version 2.526
Latest signed off version: v2.1 (24 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • Expert Review Amber
  • IUIS Classification February 2018
Phenotypes
  • Respiratory infections, pancreatic insufficiency, elevated sweat chloride
  • Cystic fibrosis, 219700
  • Congenital defects of phagocyte number or function

Green CFTR in Pancreatitis


Version 2.10
Latest signed off version: v2.2 (3 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • EUROPAC
Phenotypes
  • {Pancreatitis, hereditary} 167800
  • Cystic fibrosis 219700

Red CFTR in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.40

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies

Green CFTR in Respiratory ciliopathies including non-CF bronchiectasis


Version 1.53
Latest signed off version: v1.3 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cystic Fibrosis
  • Ciliopathies
  • Congenital bilateral absence of vas deferens, 277180
  • Sweat chloride elevation without CF
  • {Hypertrypsinemia, neonatal}
  • Cystic fibrosis, 219700
  • {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400
  • Bronchiectasis
  • {Pancreatitis, idiopathic}, 167800

Red CFTR in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.168
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Emory Genetics Laboratory

    Green CFTR in Fetal anomalies


    Version 1.826
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Cystic fibrosis 219700

    Red CFTR in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.157

    review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Ciliopathies

    Green CFTR in Additional findings reproductive carrier status


    Version 1.0

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Carrier status
    • Cystic Fibrosis
    • Adult-only

    Green CFTR in Severe Paediatric Disorders


    Version 1.112

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Congenital bilateral absence of vas deferens, 277180
    • Sweat chloride elevation without CF