Familial pulmonary fibrosis

Gene: NF1

Red List (low evidence)

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.

Red List (low evidence)

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.

Green List (high evidence)

Comment on list classification: Interstitial lung disease seen in 7-20% of over 30s

Created: 9 Feb 2017, 2:16 p.m.

Comment on list classification: Interstitial lung disease seen in 7-20% of over 30s

Created: 9 Feb 2017, 2:16 p.m.

Basilar lung fibrosis has been reported in NF1

Created: 9 Feb 2017, 10:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurofibromatosis, type 1 162200

Publications

• 16870664