Familial pulmonary fibrosis
Gene: SFTPA1
Four families and a mouse model, bi-allelic disease appears to be more severe, earlier onset.Created: 6 Jul 2020, 8:53 a.m. | Last Modified: 6 Jul 2020, 8:53 a.m.
Panel Version: 1.9
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Idiopathic pulmonary fibrosis
Publications
Follow up email from Philip Molyneaux (Imperial College) confirming SFTPA1 does not currently meet the criteria for familial idiopathic pulmonary fibrosis, the earlier review rating SFTPA1 as Green was an error, so agrees it should currently be classified as Red (low evidence)Created: 3 May 2017, 7:25 a.m.
Comment on list classification: One multigenerational family reported in PMID: 26792177 with functional data. The other publications are association studies.Created: 27 Apr 2017, 3:34 p.m.
Linked to familial idiopathic pulmonary fibrosis
Created: 26 Apr 2017, 12:17 p.m.
Publications
No reported casesCreated: 8 Feb 2017, 4:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Pulmonary fibrosis, idiopathic, susceptibility to} 178500
Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Publications for SFTPA1 were set to 26792177;13680361;22884059
This gene has been classified as Red List (Low Evidence).
Phenotypes for SFTPA1 were set to {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500;familial idiopathic pulmonary fibrosis
Publications for SFTPA1 were set to 26792177
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for SFTPA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
SFTPA1 was added to Familial pulmonary fibrosispanel. Sources: Radboud University Medical Center, Nijmegen
SFTPA1 was created by ellenmcdonagh