Familial pulmonary fibrosis
Gene: NKX2-1Comment on phenotypes: Added phenotype suggested by expert reviewerCreated: 27 Apr 2017, 3:26 p.m.
Comment on publications: Added publications suggested by expert reviewerCreated: 27 Apr 2017, 3:25 p.m.
Associated with pulonary fibrosis, but strong recurernt infection signal. One other publication to add PMID: 23430038Created: 26 Apr 2017, 9:25 a.m.
Lung disease occurred in 25 (54%) of 46 patients, with infant respiratory distress syndrome present at term in 19 (76%) patients and recurrent pulmonary infections in 6 (24%). On follow-up, 5 (20%) of 25 developed severe chronic interstitial lung disease, and 4 (16%) of 25 died from respiratory failure or infant respiratory distress syndrome. (Carre et al 2009)Created: 9 Feb 2017, 11:53 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978
Publications
Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Phenotypes for NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978;Associated with pulmonary fibrosis, but strong recurrent infection signal
Publications for NKX2-1 were set to 9565498; 19336474; 23430038
This gene has been classified as Green List (High Evidence).
NKX2-1 was created by agardham
NKX2-1 was added to Familial pulmonary fibrosispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory