Pneumothorax - familialGene: ELN
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: ELN; Suggested initial gene rating: Amber; Evidence for inclusion: Cutis laxa; pneumothorax is an extremely rare feature.; Evidence for exclusion: Pneumothorax rare/almost unheard of, dermatological features more striking.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 6 Dec 2018, 2:37 p.m.
Source NHS GMS was added to ELN.
09/02/17 - Panel revised according to expert review, literature searches and clinical review.
This gene has been classified as Red List (Low Evidence).
This proposed gene was validated and added to this panel
ELN was created by [email protected]
ELN was added to Familial Pneumothoraxpanel. Sources: Expert list