Table 1.

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.