Familial pulmonary fibrosis

Gene: SFTPA1

Red List (low evidence)

SFTPA1 (surfactant protein A1)
EnsemblGeneIds (GRCh38): ENSG00000122852
EnsemblGeneIds (GRCh37): ENSG00000122852
OMIM: 178630, Gene2Phenotype
SFTPA1 is in 1 panel

5 reviews

Zornitza Stark (Australian Genomics)

I don't know

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)

Red List (low evidence)

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)

Green List (high evidence)

Linked to familial idiopathic pulmonary fibrosis
Created: 26 Apr 2017, 12:17 p.m.

Publications

Alice Gardham (Genomics England)

Red List (low evidence)

No reported cases
Created: 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

27 Apr 2017, Gel status: 1

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

27 Apr 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SFTPA1 were set to 26792177;13680361;22884059

27 Apr 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 Apr 2017, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SFTPA1 were set to {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500;familial idiopathic pulmonary fibrosis

27 Apr 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SFTPA1 were set to 26792177

8 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

8 Feb 2017, Gel status: 1

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for SFTPA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SFTPA1 was added to Familial pulmonary fibrosispanel. Sources: Radboud University Medical Center, Nijmegen

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SFTPA1 was created by ellenmcdonagh