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 CFTR gene CFTR Expert list;Expert Review Green Pneumothorax Structural lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Cystic fibrosis MONDO:0009061 Pneumothorax;HP:0002107 30681372;17056865;16100160;2919902 False 3 100;0;0 1.0 True ENSG00000001626 ENSG00000001626 HGNC:1884 COL3A1 gene COL3A1 Expert list;Expert Review Green;NHS GMS Pneumothorax Structural lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ehlers-Danlos syndrome, vascular type, OMIM:130050 Pneumothorax;HP:0002107 25940258;9147885;7369469;26666608 False 3 100;0;0 1.0 False ENSG00000168542 ENSG00000168542 HGNC:2201 FBN1 gene FBN1 Eligibility statement prior genetic testing;Expert list;Expert Review Green;NHS GMS Pneumothorax Structural lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Marfan syndrome, OMIM:154700 Pneumothorax;HP:0002107 12598898;1864149;11786720;2595640;15161620;25765122 False 3 100;0;0 1.0 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 Structural lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pneumothorax, primary spontaneous, OMIM:173600;Birt-Hogg-Dube Syndrome, OMIM:135150 Pneumothorax;HP:0002107 19483054;15852235;26928018;15657874;21550484;15805188;12204536 False 3 100;0;0 1.0 False ENSG00000154803 ENSG00000154803 HGNC:27310 IPO8 gene IPO8 Expert list;Expert Review Green Pneumothorax Structural lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Loeys-Dietz syndrome MONDO:0018954 Pneumothorax;HP:0002107 20301312 False 3 100;0;0 1.0 False ENSG00000133704 ENSG00000133704 HGNC:9853 SERPINA1 gene SERPINA1 Expert list;Expert Review Green;NHS GMS Pneumothorax Structural lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Emphysema-cirrhosis, due to AAT deficiency, OMIM:613490;Emphysema due to AAT deficiency, OMIM:613490 Pneumothorax;HP:0002107 27229674;22215832;18619132;22544422 False 3 100;0;0 1.0 False ENSG00000197249 ENSG00000197249 HGNC:8941 SMAD2 gene SMAD2 Expert Review Green;NHS GMS Pneumothorax Structural lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Loeys-Dietz syndrome,MONDO:0018954 Pneumothorax;HP:0002107 29392890;26247899;29707331;20301312 False 3 0;0;100 1.0 False Other ENSG00000175387 ENSG00000175387 HGNC:6768 SMAD3 gene SMAD3 Expert list;Expert Review Green;NHS GMS Pneumothorax Structural lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary emphysema, MONDO:0004849;Loeys-Dietz syndrome type 3, OMIM:613795 Pneumothorax;HP:0002107 25006744;26493799;15591413;23161884;20301312 False 3 0;100;0 1.0 True ENSG00000166949 ENSG00000166949 HGNC:6769 TGFB2 gene TGFB2 Expert list;Expert Review Green;NHS GMS Pneumothorax Structural lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Loeys-Dietz syndrome 4, OMIM:614816;Pulmonary emphysema, MONDO:0004849 Pneumothorax;HP:0002107 25006744;26493799;15591413;23161884 False 3 0;100;0 1.0 False ENSG00000092969 ENSG00000092969 HGNC:11768 TGFB3 gene TGFB3 Expert list;Expert Review Green;NHS GMS Pneumothorax Structural lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary emphysema, MONDO:0004849;Loeys-Dietz syndrome 5, OMIM:615582 Pneumothorax;HP:0002107 15591413;25006744;25835445;24577266;26493799;23161884;20301312 False 3 0;0;100 1.0 False ENSG00000119699 ENSG00000119699 HGNC:11769 TGFBR1 gene TGFBR1 Expert list;Expert Review Green;NHS GMS Pneumothorax Structural lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary emphysema, MONDO:0004849;Loeys-Dietz syndrome 1, OMIM:609192 Pneumothorax;HP:0002107 16799921;15591413;25006744;26493799;23161884;20301312 False 3 0;0;100 1.0 False ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Expert list;Expert Review Green;NHS GMS Pneumothorax Structural lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary emphysema, MONDO:0004849;Loeys-Dietz syndrome type 2, OMIM:610168 Pneumothorax;HP:0002107 25006744;26493799;15591413;23161884 False 3 100;0;0 1.0 False ENSG00000163513 ENSG00000163513 HGNC:11773 TSC1 gene TSC1 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Pneumothorax Structural lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tuberous sclerosis-1, OMIM:191100;Lymphangioleiomyomatosis, OMIM:606690 Pneumothorax;HP:0002107 10069705;19420210;23729718;20167846;19318672;27171001 False 3 0;100;0 1.0 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Pneumothorax Structural lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lymphangioleiomyomatosis, MONDO:0011705;Tuberous sclerosis-2, OMIM:613254 Pneumothorax;HP:0002107 10069705;19420210;23729718;20167846;19318672;27171001 False 3 0;100;0 1.0 False ENSG00000103197 ENSG00000103197 HGNC:12363 CBS gene CBS Expert list;Expert Review Amber Pneumothorax Structural lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Classic homocystinuria MONDO:0009352 Pneumothorax;HP:0002107 2333882;27229674;9427154;30681372 False 2 0;100;0 1.0 True ENSG00000160200 ENSG00000160200 HGNC:1550 ELN gene ELN Expert Review Red;Other Pneumothorax Structural lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted cutis laxa, autosomal dominant 1 MONDO:0007411 Pneumothorax;HP:0002107 30416599;30681372 False 1 0;0;100 1.0 True Other ENSG00000049540 ENSG00000049540 HGNC:3327 FBLN5 gene FBLN5 Expert Review Red;Other Pneumothorax Structural lung disorders Respiratory disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal cutis laxa MONDO:0016175 Pneumothorax;HP:0002107 21152794;30681372 False 1 0;0;100 1.0 True ENSG00000140092 ENSG00000140092 HGNC:3602 LTBP4 gene LTBP4 Expert Review Red;Other Pneumothorax Structural lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies MONDO:0013170 Pneumothorax;HP:0002107 30681372;35921570 False 1 0;0;100 1.0 True ENSG00000090006 ENSG00000090006 HGNC:6717