PanelApp familial pneumothorax gene panel
| Gene | Mode of inheritance | Details | OMIM |
| COL3A1 | Monoalleilic, autosomal | Ehlers-Danlos syndrome, vascular type | 130 050 |
| FBN1 | Monoalleilic, autosomal | Marfan syndrome | 154 700 |
| FLCN | Monoalleilic, autosomal | Primary Spontaneous Pneumothorax | 173 600 |
| Birt-Hogg-Dubé Syndrome | 135 150 | ||
| SERPINA1 | Biallelic, autosomal | Alpha-1-antrypsin deficiency | 613 490 |
| TGFBR1 | Monoalleilic, autosomal | Loeys-Dietz syndrome type 1 | 609 192 |
| TGFBR2 | Monoalleilic, autosomal | Loeys-Dietz syndrome type 2 | 610 168 |
| TGFB2 | Monoalleilic, autosomal | Loeys-Dietz syndrome type 4 | 614 816 |
| TGFB3 | Monoalleilic, autosomal | Loeys-Dietz syndrome type 5 | 615 582 |
| TSC1 | Monoalleilic, autosomal | Tuberous sclerosis 1 | 191 100 |
| TSC2 | Monoalleilic, autosomal | Tuberous sclerosis 2 | 613 254 |
Familial primary spontaneous pneumothorax ‘green gene’ list generated using NHS Genomic England PanelApp crowdsourcing tool: panel V.2.20 https://panelapp.genomicsengland.co.uk/panels/105/. https://omim.org/.
COL3A1, collagen, type III, alpha-1; FBN1, fibrillin 1; FLCN, folliculin; NHS, National Health Service; OMIM, Online Mendelian Inheritance in Man; SERPINA1, alpha-1-antitrypsin; TGFBR1, transforming growth factor-beta receptor, type I; TSC1, tuberous sclerosis complex subunit 1.