CFTR

cystic fibrosis transmembrane conductance regulator
OMIM: 602421, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green CFTR in Non-CF bronchiectasis Level 3: Respiratory ciliopathies Level 2: Ciliopathies Version 1.32	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
No list CFTR in Additional findings health related Version 0.116	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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 1.29	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 1.146	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 1.32	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 1.24	review	Not set	Sources Emory Genetics Laboratory
Green CFTR in Cholestasis Level 2: Gastrohepatology Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cholestasis Neonatal and Adult Cholestasis Cystic fibrosis, OMIM:219700, MONDO:0009061 {Pancreatitis, hereditary}, OMIM:167800
Amber CFTR in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	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 Level 2: Gastrohepatology Version 3.5 Latest signed off version: v3.0 (30 Nov 2022)	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 1.56	review	Not set	Sources Emory Genetics Laboratory Phenotypes ciliopathies
Green CFTR in Respiratory ciliopathies including non-CF bronchiectasis Level 2: Respiratory Version 4.55 Latest signed off version: v4.0 (30 Apr 2025)	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 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Emory Genetics Laboratory
Green CFTR in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	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 1.180	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Ciliopathies
Green CFTR in Additional findings reproductive carrier status Version 1.2	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Carrier status Cystic Fibrosis Adult-only
Green CFTR in Cystic fibrosis diagnostic test Level 2: Respiratory Version 1.3 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cystic fibrosis, OMIM:219700 cystic fibrosis, MONDO:0009061