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  3. SFTPD
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Surfactant deficiency

Gene: SFTPD

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

3 reviews

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Red List (low evidence)

No variants detected by CGGL Royal Brompton to date. Not enough evidence for inclusion currently.
Created: 23 Aug 2019, 4:53 p.m. | Last Modified: 22 Sep 2019, 8:25 p.m.
Panel Version: 0.28

Mode of inheritance
Unknown

Created: 23 Aug 2019, 4:53 p.m.
Last Modified: 22 Sep 2019, 8:25 p.m.
Panel version: 0.26

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Comment on list classification: No reported mutations in humans.
Created: 20 Jan 2019, 6:22 p.m.
Created: 20 Jan 2019, 6:22 p.m.

Panel version: 0.5

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it was agreed there was not enough evidence to rate this gene Green on this panel, although the protein is involved in surfactant metabolism no mutations identified in humans, so rating was downgraded to Red
Created: 21 Jan 2019, 10:12 p.m.
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: SFTPD; Suggested initial gene rating: Green; Evidence for inclusion: OMIM Surfactant metabolism dysfunction gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 2:58 p.m.
Created: 5 Dec 2018, 2:58 p.m.

Panel version: 0.8

Details

Sources
  • NHS GMS
OMIM
178635
Clinvar variants
Variants in SFTPD
Penetrance
None
Panels with this gene

History Filter Activity

20 Jan 2019, Gel status: 1

Entity classified by Genomics England curator

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Gene: sftpd has been classified as Red List (Low Evidence).

5 Dec 2018, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SFTPD. Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SFTPD was added gene: SFTPD was added to Surfactant deficiency. Sources: NHS GMS Mode of inheritance for gene: SFTPD was set to