CFTR

cystic fibrosis transmembrane conductance regulator
OMIM: 602421
PanelMode of inheritanceDetails
4 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholestasis, Neonatal and Adult Cholestasis, Cystic fibrosis, OMIM:219700, MONDO:0009061, {Pancreatitis, hereditary}, OMIM:167800
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cystic fibrosis 219700
Green
in Pancreatitis
R-numbers: R175
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
{Pancreatitis, hereditary} 167800, Cystic fibrosis 219700
R-numbers: R189
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
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