Familial pulmonary fibrosis
Gene: NF1
Predominant cystic lung disease rather than fibrotic, associated with NF1.
Created: 26 Apr 2017, 9:24 a.m.
Comment on list classification: Review from Gisli Jenkins, University of Nottingham: "NF1 is the gene for Neurofibromatosis, a proportion of whom get ILD (<20%) but this may reflect secondary genetic, physical or environmental modifiers that are not related to the primary genetic abnormality - so I would not have it on the list." Combined with the review from Toby Maher, the gene should be demoted.Created: 23 Mar 2017, 12:39 p.m.
Review from Toby Maher, Royal Brompton & Harefield NHS Foundation Trust: "The criteria for familial pulmonary fibrosis specifically excludes cystic lung diseases. A number of the genes on the list very specifically relate to cystic lung disease rather than pulmonary fibrosis (e.g. TSC1, TSC2 and NF1) and I wonder whether they should be included in this panel".Created: 25 Apr 2017, 12:02 p.m.
Comment on list classification: Interstitial lung disease seen in 7-20% of over 30sCreated: 9 Feb 2017, 2:16 p.m.
Comment on list classification: Interstitial lung disease seen in 7-20% of over 30sCreated: 9 Feb 2017, 2:16 p.m.
Basilar lung fibrosis has been reported in NF1Created: 9 Feb 2017, 10:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurofibromatosis, type 1 162200
Publications
Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Publications for NF1 were set to 16870664; 15331184
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
NF1 was created by agardham
NF1 was added to Familial pulmonary fibrosispanel. Sources: Literature