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 ABCA3 gene ABCA3 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921 15044640;27516224;24871971;15976379;17142158 False 3 100;0;0 1.6 True ENSG00000167972 ENSG00000167972 HGNC:33 ACVRL1 gene ACVRL1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376;Childhood Pulmonary Arterial Hypertension 22632830;27587546 False 3 100;0;0 1.6 True ENSG00000139567 ENSG00000139567 HGNC:175 AP3B1 gene AP3B1 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal MIM# 603401;Hermansky Pudlak syndrome (HPS2);Childhood pulmonary fibrosis 10024875;11809908;10759101;28585318 False 3 100;0;0 1.6 True ENSG00000132842 ENSG00000132842 HGNC:566 BMPR2 gene BMPR2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600;Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600;Pulmonary venoocclusive disease 1 MIM#265450 27587546;24355637;22632830;11115378 False 3 100;0;0 1.6 True ENSG00000204217 ENSG00000204217 HGNC:1078 CAV1 gene CAV1 Expert list;Expert Review Green Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Pulmonary hypertension, primary, 3, MIM# 615343;Lipodystrophy, familial partial, type 7, MIM# 606721" 27717241;22474227 False 3 100;0;0 1.6 True ENSG00000105974 ENSG00000105974 HGNC:1527 CCBE1 gene CCBE1 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Hennekam Syndrome, MIM#235510 25925991;26686525;19935664;23653581;19911200 False 3 100;0;0 1.6 True ENSG00000183287 ENSG00000183287 HGNC:29426 CCDC39 gene CCDC39 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 14, MIM# 613807 21131972;23255504 False 3 100;0;0 1.6 True ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC40 gene CCDC40 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 15, MIM#613808 21131974;23255504;31879361;31765523;31650533 False 3 100;0;0 1.6 True ENSG00000141519 ENSG00000141519 HGNC:26090 CFTR gene CFTR Expert list;Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Cystic fibrosis, MIM# 219700 False 3 100;0;0 1.6 True ENSG00000001626 ENSG00000001626 HGNC:1884 COPA gene COPA Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Autoimmune interstitial lung, joint, and kidney disease, MIM# 616414" 27048656;30385646;30804679;29977900 False 3 100;0;0 1.6 True ENSG00000122218 ENSG00000122218 HGNC:2230 CSF2RA gene CSF2RA Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal "Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770" 20622029;25425184;18955570 False 3 100;0;0 1.6 True ENSG00000198223 ENSG00000198223 HGNC:2435 DNAAF1 gene DNAAF1 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 13, MIM# 613193 19944400;19944405;32502479;29228333;27261005 False 3 100;0;0 1.6 True ENSG00000154099 ENSG00000154099 HGNC:30539 DNAAF2 gene DNAAF2 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 10, MIM# 612518 19052621;32638265;31107948 False 3 100;0;0 1.6 True ENSG00000165506 ENSG00000165506 HGNC:20188 DNAAF3 gene DNAAF3 Expert list;Expert Review Green Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 2, MIM# 606763 22387996;32622824;31186518 False 3 50;50;0 1.6 True ENSG00000167646 ENSG00000167646 HGNC:30492 DNAH11 gene DNAH11 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884 12142464;18022865;22102620;32633470;31879361;31765523;31040315 False 3 100;0;0 1.6 True ENSG00000105877 ENSG00000105877 HGNC:2942 DNAH5 gene DNAH5 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644) 16627867;33242470 False 3 100;0;0 1.6 True ENSG00000039139 ENSG00000039139 HGNC:2950 DNAI1 gene DNAI1 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400 10577904;11231901;32502479;31765523;30622330;21143860;28939216 False 3 100;0;0 1.6 True ENSG00000122735 ENSG00000122735 HGNC:2954 DNAI2 gene DNAI2 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444 18950741;23261302 False 3 100;0;0 1.6 True ENSG00000171595 ENSG00000171595 HGNC:18744 DOCK8 gene DOCK8 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal "Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM# 243700;Childhood bronchiectasis" 25627830;25724123;20004785;19776401;23929855;27207373 False 3 100;0;0 1.6 True ENSG00000107099 ENSG00000107099 HGNC:19191 EFEMP2 gene EFEMP2 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437 30140196;23532871;31548410;19664000 False 3 100;0;0 1.6 True ENSG00000172638 ENSG00000172638 HGNC:3219 ELN gene ELN Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cutis laxa, autosomal dominant, MIM# 123700" 29501665;15381555;28383366;18348261 False 3 100;0;0 1.6 True ENSG00000049540 ENSG00000049540 HGNC:3327 ENG gene ENG Expert list;Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300;Pulmonary arterial hypertension 30336550;27587546 False 3 100;0;0 1.6 True ENSG00000106991 ENSG00000106991 HGNC:3349 FAT4 gene FAT4 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Hennekam Syndrome, MIM# 235510;childhood pulmonary lymphangiectasia 24913602;14564208 False 3 100;0;0 1.6 True ENSG00000196159 ENSG00000196159 HGNC:23109 FBLN5 gene FBLN5 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal "Cutis laxa, autosomal recessive, type IA, MIM# 219100;childhood-onset emphysema" 11805835;30640789;33509220;24962763 False 3 100;0;0 1.6 True ENSG00000140092 ENSG00000140092 HGNC:3602 FBN1 gene FBN1 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Marfan syndrome, MIM# 154700;Neonatal Marfan Syndrome - respiratory distress of the newborn/ pulmonary emphysema/ pneumothoraces." 31238364;27138491;17701892 False 3 100;0;0 1.6 True ENSG00000166147 ENSG00000166147 HGNC:3603 FGF10 gene FGF10 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "LADD syndrome, MIM# 149730;pulmonary hypoplasia" 30639323;30429870;9916808 False 3 100;0;0 1.6 True ENSG00000070193 ENSG00000070193 HGNC:3666 FLNA gene FLNA Expert Review Green;Literature;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Interstitial lung disease 30547349 False 3 100;0;0 1.6 True ENSG00000196924 ENSG00000196924 HGNC:3754 FOXF1 gene FOXF1 Expert Review;Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380 23505205;27071622;27855150;19500772 False 3 100;0;0 1.6 True ENSG00000103241 ENSG00000103241 HGNC:3809 GATA2 gene GATA2 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 21, MIM# 614172;MONDO:0042982;Emberger syndrome, MIM# 614038;MONDO:0013540;chILD, childhood pulmonary alveolar proteinosis 21670465;21242295;21892158;25707267;6577833;24345756;24227816 False 3 100;0;0 1.6 True ENSG00000179348 ENSG00000179348 HGNC:4171 HPS1 gene HPS1 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal "Hermansky-Pudlak syndrome 1, MIM# 203300;Childhood pulmonary fibrosis" 9787100;25379352;27529121 False 3 100;0;0 1.6 True ENSG00000107521 ENSG00000107521 HGNC:5163 HPS4 gene HPS4 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal "Hermansky-Pudlak syndrome 4, MIM# 614073;Childhood pulmonary fibrosis" 15108212;12664304;21833017 False 3 100;0;0 1.6 True ENSG00000100099 ENSG00000100099 HGNC:15844 HRAS gene HRAS Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Costello syndrome 218040;chILD, pulmonary arterial hypertension" 18039947;18978662;27102959 False 3 100;0;0 1.6 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000174775 ENSG00000174775 HGNC:5173 ITGA3 gene ITGA3 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748 22512483;25810266;27717396;32198874;26854491;23114595;30466509 False 3 100;0;0 1.6 True ENSG00000005884 ENSG00000005884 HGNC:6139 LRBA gene LRBA Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency, common variable, 8, with autoimmunity, MIM# 614700;Immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) -like;Childhood bronchiectasis and GLILD (Granulomatous and Lymphocytic interstitial lung disease)" 25468195;30479781;26768763;28956255;28512785 False 3 100;0;0 1.6 True ENSG00000198589 ENSG00000198589 HGNC:1742 LTBP4 gene LTBP4 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal "Cutis laxa, autosomal recessive, type IC, MIM# 613177;Urban-Rifkin-Davis Syndrome cutis laxa;Infant/Childhood emphysema" 22829427;19836010;28684544 False 3 100;0;0 1.6 True ENSG00000090006 ENSG00000090006 HGNC:6717 MARS gene MARS Expert list;Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Interstitial lung and liver disease, MIM#615486 24103465;25913036;30271085;29655802 False 3 100;0;0 1.6 True ENSG00000166986 ENSG00000166986 HGNC:6898 NF1 gene NF1 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis, type 1, MIM# 162200;Diffuse interstitial lung disease;Pulmonary hypertension 33446201;32742882;32437637 False 3 100;0;0 1.6 True ENSG00000196712 ENSG00000196712 HGNC:7765 NKX2-1 gene NKX2-1 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Choreoathetosis, hypothyroidism, and neonatal respiratory distress, MIM# 610978 23911641;11854319;24714694 False 3 100;0;0 1.6 True ENSG00000136352 ENSG00000136352 HGNC:11825 OAS1 gene OAS1 Expert Review Green;Literature;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammatory immunodeficiency;infantile-onset pulmonary alveolar proteinosis;hypogammaglobulinaemia 34145065;29455859 False 3 100;0;0 1.6 True Other ENSG00000089127 ENSG00000089127 HGNC:8086 PHOX2B gene PHOX2B Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, MIM# 209880 20301600 False 3 100;0;0 1.6 True ENSG00000109132 ENSG00000109132 HGNC:9143 PIH1D3 gene PIH1D3 Expert list;Expert Review Green Interstitial Lung Disease Respiratory disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Ciliary dyskinesia, primary, 36, X-linked, MIM# 300991" 28176794;28041644 False 3 100;0;0 1.6 True ENSG00000080572 ENSG00000080572 HGNC:28570 RPGR gene RPGR Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455 10094550;12920075;16055928 False 3 100;0;0 1.6 True ENSG00000156313 ENSG00000156313 HGNC:10295 RSPH1 gene RSPH1 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 24 (MIM#615481) 23993197;24518672;24568568 False 3 100;0;0 1.6 True ENSG00000160188 ENSG00000160188 HGNC:12371 RSPH4A gene RSPH4A Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 11 (MIM#612649) 25789548;22448264;28939216;24824133 False 3 100;0;0 1.6 True ENSG00000111834 ENSG00000111834 HGNC:21558 RSPH9 gene RSPH9 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 12 (MIM#612650) 25789548;31285900;19200523;23993197 False 3 100;0;0 1.6 True ENSG00000172426 ENSG00000172426 HGNC:21057 SFTPB gene SFTPB Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120 8163685;8021783;10378403;10571948 False 3 100;0;0 1.6 True ENSG00000168878 ENSG00000168878 HGNC:10801 SFTPC gene SFTPC Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913 11207353;11991887;11893657;15557112;19443464 False 3 100;0;0 1.6 True ENSG00000168484 ENSG00000168484 HGNC:10802 SLC7A7 gene SLC7A7 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Lysinuric protein intolerance, MIM# 222700;Childhood interstitial lung disease and pulmonary arterial proteinosis 10080182;18716612;29058386;25335805;8319714;7844671 False 3 100;0;0 1.6 True ENSG00000155465 ENSG00000155465 HGNC:11065 SMAD9 gene SMAD9 Expert list;Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary hypertension, primary, 2 MIM#615342 29844917;21920918;19211612;21898662 False 3 100;0;0 1.6 True ENSG00000120693 ENSG00000120693 HGNC:6774 SOX18 gene SOX18 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940" 30549413;33851505 False 3 100;0;0 1.6 True ENSG00000203883 ENSG00000203883 HGNC:11194 STAT1 gene STAT1 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892;Childhood bronchiectasis" 28427548;28367431;21727188;27379765;26732859;27114460 False 3 100;0;0 1.6 True ENSG00000115415 ENSG00000115415 HGNC:11362 STAT3 gene STAT3 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyper-IgE recurrent infection syndrome MIM# 147060;Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952;Childhood bronchiectasis, interstitial lung disease or pneumatocele 17881745;14566054;25349174;25038750;25359994 False 3 100;0;0 1.6 True Other ENSG00000168610 ENSG00000168610 HGNC:11364 STRA6 gene STRA6 Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, syndromic 9, MIM# 601186 17273977;17503335;19213032;26373900;30880327;26373900;25457163 False 3 100;0;0 1.6 True ENSG00000137868 ENSG00000137868 HGNC:30650 TBX4 gene TBX4 Expert list;Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891;Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360 31761294;31965066;29631995;23592887;30578383 False 3 100;0;0 1.6 True ENSG00000121075 ENSG00000121075 HGNC:11603 TMEM173 gene TMEM173 Expert Review;Expert Review Green;Victorian Clinical Genetics Services Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STING-associated vasculopathy, infantile-onset, MIM# 615934 27613991;32398023;25029335;25401470;28087229 False 3 100;0;0 1.6 True Other ENSG00000184584 ENSG00000184584 HGNC:27962 ISCA-37431-Loss region Expert list;Expert Review Green;Expert Review Green;Expert list Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chromosome 17q11.2 deletion syndrome, MIM#613675;NF1 deletion syndrome 12660952;14729829 False 3 100;0;0 1.6 False 17 30835804 31891648 3 80 cnv_loss Chromosome 17q11.2 deletion syndrome, NF1 deletion syndrome