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
COL3A1	gene	COL3A1	Expert list;Expert Review Green;NHS GMS	Pneumothorax - familial		Respiratory	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Ehlers-Danlos syndrome, vascular type, OMIM:130050				26666608;25940258;9147885;7369469		False	3	100;0;0	3.6	False		ENSG00000168542	ENSG00000168542	HGNC:2201													
FBN1	gene	FBN1	Eligibility statement prior genetic testing;Expert list;Expert Review Green;NHS GMS	Pneumothorax - familial		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Marfan syndrome, OMIM:154700				12598898;15161620;11786720;1864149;2595640;25765122		False	3	100;0;0	3.6	False		ENSG00000166147	ENSG00000166147	HGNC:3603													
FLCN	gene	FLCN	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Pneumothorax - familial		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pneumothorax, primary spontaneous, OMIM:173600;Birt-Hogg-Dube Syndrome, OMIM:135150				21550484;19483054;15852235;15805188;15657874;12204536;26928018;19483054		False	3	100;0;0	3.6	False		ENSG00000154803	ENSG00000154803	HGNC:27310													
SERPINA1	gene	SERPINA1	Expert list;Expert Review Green;NHS GMS	Pneumothorax - familial		Respiratory	BIALLELIC, autosomal or pseudoautosomal	Emphysema due to AAT deficiency, OMIM:613490;Emphysema-cirrhosis, due to AAT deficiency, OMIM:613490				22215832;18619132;27229674;22544422		False	3	75;0;25	3.6	True		ENSG00000197249	ENSG00000197249	HGNC:8941													
TGFB2	gene	TGFB2	Expert list;Expert Review Green;NHS GMS	Pneumothorax - familial		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pulmonary emphysema, MONDO:0004849;Loeys-Dietz syndrome 4, OMIM:614816				26493799;15591413;25006744;23161884		False	3	100;0;0	3.6	False		ENSG00000092969	ENSG00000092969	HGNC:11768													
TGFB3	gene	TGFB3	Expert list;Expert Review Green;NHS GMS	Pneumothorax - familial		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pulmonary emphysema, MONDO:0004849;Loeys-Dietz syndrome 5, OMIM:615582				26493799;15591413;25006744;23161884;24577266;25835445		False	3	100;0;0	3.6	False		ENSG00000119699	ENSG00000119699	HGNC:11769													
TGFBR1	gene	TGFBR1	Expert list;Expert Review Green;NHS GMS	Pneumothorax - familial		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pulmonary emphysema, MONDO:0004849;Loeys-Dietz syndrome 1, OMIM:609192				26493799;15591413;25006744;23161884;16799921		False	3	100;0;0	3.6	False		ENSG00000106799	ENSG00000106799	HGNC:11772													
TGFBR2	gene	TGFBR2	Expert list;Expert Review Green;NHS GMS	Pneumothorax - familial		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pulmonary emphysema, MONDO:0004849;Loeys-Dietz syndrome type 2, OMIM:610168				26493799;15591413;25006744;23161884		False	3	100;0;0	3.6	False		ENSG00000163513	ENSG00000163513	HGNC:11773													
TSC1	gene	TSC1	Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen	Pneumothorax - familial		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Lymphangioleiomyomatosis, OMIM:606690;Tuberous sclerosis-1, OMIM:191100				27171001;23729718;20167846;19420210;19318672;10069705		False	3	100;0;0	3.6	False		ENSG00000165699	ENSG00000165699	HGNC:12362													
TSC2	gene	TSC2	Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen	Pneumothorax - familial		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Lymphangioleiomyomatosis, MONDO:0011705;Tuberous sclerosis-2, OMIM:613254				27171001;23729718;20167846;19420210;19318672;10069705		False	3	100;0;0	3.6	False		ENSG00000103197	ENSG00000103197	HGNC:12363