Familial pulmonary fibrosis
Gene: SFTPA1EnsemblGeneIds (GRCh38): ENSG00000122852
EnsemblGeneIds (GRCh37): ENSG00000122852
OMIM: 178630, Gene2Phenotype
SFTPA1 is in 2 panels
5 reviews
Zornitza Stark (Australian Genomics)
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
Louise Daugherty (Genomics England Curator)
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.
Ellen McDonagh (Genomics England Curator)
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.
Philip Molyneaux (Imperial College)
Linked to familial idiopathic pulmonary fibrosis
Created: 26 Apr 2017, 12:17 p.m.
Publications
- PMID: 26792177
Alice Gardham (Genomics England)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500
- familial idiopathic pulmonary fibrosis
- OMIM
- 178630
- Clinvar variants
- Variants in SFTPA1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SFTPA1 were set to 26792177;13680361;22884059
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SFTPA1 were set to {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500;familial idiopathic pulmonary fibrosis
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SFTPA1 were set to 26792177
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for SFTPA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)SFTPA1 was added to Familial pulmonary fibrosispanel. Sources: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)SFTPA1 was created by ellenmcdonagh