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  2. Familial pulmonary fibrosis
  3. SFTPD
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Familial pulmonary fibrosis

Gene: SFTPD

Red List (low evidence)
SFTPD (surfactant protein D)
EnsemblGeneIds (GRCh38): ENSG00000133661
EnsemblGeneIds (GRCh37): ENSG00000133661
OMIM: 178635, Gene2Phenotype
SFTPD is in 2 panels

2 reviews

Philip Molyneaux (Imperial College)

Red List (low evidence)


Created: 26 Apr 2017, 12:18 p.m.
Created: 26 Apr 2017, 12:18 p.m.

Panel version: 0.110

Alice Gardham (Genomics England)

Comment when marking as ready: Protein involved in surfactant metabolism but no mutations identified in humans
Created: 9 Feb 2017, 10:52 a.m.
Created: 9 Feb 2017, 10:52 a.m.

Panel version: 0.71

Details

Sources
  • Expert Review Red
  • Emory Genetics Laboratory
OMIM
178635
Clinvar variants
Variants in SFTPD
Penetrance
Complete
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

9 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).

9 Feb 2017, Gel status: 1

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for SFTPD were set to

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SFTPD was created by ellenmcdonagh

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SFTPD was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory