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 SMAD2 gene SMAD2 Expert Review Amber;NHS GMS Pneumothorax - familial Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Loeys-Dietz syndrome,MONDO:0018954 29707331;26247899;29392890 False 2 0;100;0 3.6 False Other ENSG00000175387 ENSG00000175387 HGNC:6768 SMAD3 gene SMAD3 Expert list;Expert Review Amber;NHS GMS Pneumothorax - familial Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary emphysema, MONDO:0004849;Loeys-Dietz syndrome type 3, OMIM:613795 26493799;15591413;25006744;23161884 False 2 33;67;0 3.6 False ENSG00000166949 ENSG00000166949 HGNC:6769 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