Surfactant deficiency
Gene: SFTPD
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
Comment on list classification: No reported mutations in humans.Created: 20 Jan 2019, 6:22 p.m.
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 RedCreated: 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 givenCreated: 5 Dec 2018, 2:58 p.m.
Gene: sftpd has been classified as Red List (Low Evidence).
Source Expert Review Green was added to SFTPD. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: SFTPD was added gene: SFTPD was added to Surfactant deficiency. Sources: NHS GMS Mode of inheritance for gene: SFTPD was set to