Pneumothorax - familial

Gene: COL5A1

I don't know

October 2019: Gene flagged up for further discussion by Respiratory Test Group regarding the inclusion of genes associated with Loeys-Dietz syndrome and classical EDS. However, no additional feedback was received, so gene will not be upgraded to Green as inclusion on this panel remains unclear. COL5A1, SMAD2 and SMAD3 are rated Green on the R101 Ehlers Danlos syndromes panel https://panelapp.genomicsengland.co.uk/panels/53/

Created: 5 Nov 2019, 2:56 p.m. | Last Modified: 5 Nov 2019, 2:56 p.m.

Panel Version: 1.18

From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Classical EDS – discussion on wether this gene needs to be on this panel as well as EDS panel (R101 Ehlers Danlos syndrome with a likely monogenic cause) or would it be more likely that patients with an EDS phenotype would be tested under that indication – Specialist group to contact Glenda Sobie for her opinion.

Created: 21 Jan 2019, 10:40 a.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: COL5A1; Suggested initial gene rating: Green; Evidence for inclusion: Classic EDS; pneumothorax reported.; Evidence for exclusion: Somewhat syndromic but can be later onset/less clinically distinct than other forms.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given

Created: 6 Dec 2018, 2:37 p.m.