Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
ACTA2	gene	ACTA2	NHS GMS	Pneumothorax - familial		Respiratory								False	1	0;100;0	3.6	False		ENSG00000107796	ENSG00000107796	HGNC:130													
ADAMTS2	gene	ADAMTS2	NHS GMS	Pneumothorax - familial		Respiratory								False	1	0;100;0	3.6	False		ENSG00000087116	ENSG00000087116	HGNC:218													
ALDH18A1	gene	ALDH18A1	Expert list;Expert Review Red	Pneumothorax - familial		Respiratory	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Cutis laxa, autosomal dominant 3;Cutis laxa, autosomal recessive, type IIIA				24962763;22829427		False	1	0;0;100	3.6	False		ENSG00000059573	ENSG00000059573	HGNC:9722													
ATP6V0A2	gene	ATP6V0A2	Expert list;Expert Review Red	Pneumothorax - familial		Respiratory	BIALLELIC, autosomal or pseudoautosomal	Cutis laxa, 219200				24962763;22829427		False	1	0;0;100	3.6	False		ENSG00000185344	ENSG00000185344	HGNC:18481													
ATP7A	gene	ATP7A	Expert list;Expert Review Red	Pneumothorax - familial		Respiratory	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Menkes Disease				16278898		False	1	0;0;100	3.6	False		ENSG00000165240	ENSG00000165240	HGNC:869													
BTNL2	gene	BTNL2	NHS GMS	Pneumothorax - familial		Respiratory								False	1	0;100;0	3.6	False		ENSG00000204290	ENSG00000204290	HGNC:1142													
CHST14	gene	CHST14	NHS GMS	Pneumothorax - familial		Respiratory								False	1	0;100;0	3.6	False		ENSG00000169105	ENSG00000169105	HGNC:24464													
COL5A1	gene	COL5A1	NHS GMS	Pneumothorax - familial		Respiratory								False	1	0;100;0	3.6	False		ENSG00000130635	ENSG00000130635	HGNC:2209													
EFEMP2	gene	EFEMP2	Expert list;Expert Review Red	Pneumothorax - familial		Respiratory	BIALLELIC, autosomal or pseudoautosomal	Cutis laxa				24962763;22829427		False	1	0;0;100	3.6	False		ENSG00000172638	ENSG00000172638	HGNC:3219													
ELN	gene	ELN	Expert list;Expert Review Red;NHS GMS	Pneumothorax - familial		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cutis laxa				21309044;10970822		False	1	0;50;50	3.6	False		ENSG00000049540	ENSG00000049540	HGNC:3327													
FBLN5	gene	FBLN5	Expert list;Expert Review Red	Pneumothorax - familial		Respiratory	BIALLELIC, autosomal or pseudoautosomal	Cutis laxa				24962763;22829427		False	1	0;0;100	3.6	False		ENSG00000140092	ENSG00000140092	HGNC:3602													
FOXE3	gene	FOXE3	NHS GMS	Pneumothorax - familial		Respiratory								False	1	0;0;100	3.6	False		ENSG00000186790	ENSG00000186790	HGNC:3808													
HLA-DRB1	gene	HLA-DRB1	NHS GMS	Pneumothorax - familial		Respiratory								False	1	0;100;0	3.6	False		ENSG00000196126	ENSG00000196126	HGNC:4948													
HRAS	gene	HRAS	NHS GMS	Pneumothorax - familial		Respiratory								False	1	0;100;0	3.6	False		ENSG00000174775	ENSG00000174775	HGNC:5173													
LOX	gene	LOX	NHS GMS	Pneumothorax - familial		Respiratory								False	1	0;100;0	3.6	False		ENSG00000113083	ENSG00000113083	HGNC:6664													
LTBP4	gene	LTBP4	Expert list;Expert Review Red	Pneumothorax - familial		Respiratory	BIALLELIC, autosomal or pseudoautosomal	Cutis laxa				24962763;22829427		False	1	0;0;100	3.6	False		ENSG00000090006	ENSG00000090006	HGNC:6717													
MFAP5	gene	MFAP5	NHS GMS	Pneumothorax - familial		Respiratory								False	1	0;100;0	3.6	False		ENSG00000197614	ENSG00000197614	HGNC:29673													
MTHFR	gene	MTHFR	Expert list;Expert Review Red	Pneumothorax - familial		Respiratory	BIALLELIC, autosomal or pseudoautosomal	Homocytinuria				9427154		False	1	0;0;100	3.6	False		ENSG00000177000	ENSG00000177000	HGNC:7436													
MYH11	gene	MYH11	NHS GMS	Pneumothorax - familial		Respiratory								False	1	0;100;0	3.6	False		ENSG00000133392	ENSG00000133392	HGNC:7569													
MYLK	gene	MYLK	NHS GMS	Pneumothorax - familial		Respiratory								False	1	0;100;0	3.6	False		ENSG00000065534	ENSG00000065534	HGNC:7590													
PRKG1	gene	PRKG1	NHS GMS	Pneumothorax - familial		Respiratory								False	1	0;100;0	3.6	False		ENSG00000185532	ENSG00000185532	HGNC:9414													
PYCR1	gene	PYCR1	Expert list;Expert Review Red	Pneumothorax - familial		Respiratory	BIALLELIC, autosomal or pseudoautosomal	Cutis laxa				24962763;22829427		False	1	0;0;100	3.6	False		ENSG00000183010	ENSG00000183010	HGNC:9721													
SLC25A24	gene	SLC25A24	NHS GMS	Pneumothorax - familial		Respiratory		Fontaine progeroid syndrome, OMIM;612289;Fontaine progeroid syndrome, MONDO:0012853				29903433;29100093;29100094		False	1	0;100;0	3.6	False		ENSG00000085491	ENSG00000085491	HGNC:20662