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 Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 15044640 False 3 100;0;0 0.84 True ENSG00000167972 ENSG00000167972 HGNC:33 AFF4 gene AFF4 Expert Review;Expert Review Green Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "CHOPS syndrome, MIM# 616368" Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 31058441;25730767 False 3 100;0;0 0.84 True ENSG00000072364 ENSG00000072364 HGNC:17869 AP3B1 gene AP3B1 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders Unknown Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 0.84 False ENSG00000132842 ENSG00000132842 HGNC:566 ASAH1 gene ASAH1 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders Unknown Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 0.84 False ENSG00000104763 ENSG00000104763 HGNC:735 CCBE1 gene CCBE1 Expert list;Expert Review Green Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 0.84 True ENSG00000183287 ENSG00000183287 HGNC:29426 CFTR gene CFTR Expert Review Green;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Cystic fibrosis, MIM# 219700 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 0.84 True ENSG00000001626 ENSG00000001626 HGNC:1884 COPA gene COPA Expert list;Expert Review Green Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoimmune interstitial lung, joint, and kidney disease, MIM# 616414 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 PMID: 27048656, 30385646, 30804679, 29977900 False 3 100;0;0 0.84 True ENSG00000122218 ENSG00000122218 HGNC:2230 CSF2RA gene CSF2RA Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders Unknown Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 0.84 False ENSG00000198223 ENSG00000198223 HGNC:2435 CSF2RB gene CSF2RB Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders Unknown Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 0.84 False ENSG00000100368 ENSG00000100368 HGNC:2436 DKC1 gene DKC1 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders Unknown Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 0.84 False ENSG00000130826 ENSG00000130826 HGNC:2890 DOCK8 gene DOCK8 Expert list;Expert Review Green Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM# 243700;Childhood bronchiectasis Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 0.84 True ENSG00000107099 ENSG00000107099 HGNC:19191 EFEMP2 gene EFEMP2 Expert list;Expert Review Green Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IB MIM# 614437 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 0.84 True ENSG00000172638 ENSG00000172638 HGNC:3219 ELN gene ELN Expert Review Green;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cutis laxa, autosomal dominant, MIM# 123700 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 0.84 True ENSG00000049540 ENSG00000049540 HGNC:3327 FAM111B gene FAM111B Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders Unknown Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 0.84 False ENSG00000189057 ENSG00000189057 HGNC:24200 FARSA gene FARSA Expert Review Green;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal "Rajab interstitial lung disease with brain calcifications 2, MIM# 619013" Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 31355908;33598926 False 3 50;0;50 0.84 True ENSG00000179115 ENSG00000179115 HGNC:3592 FARSB gene FARSB Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Rajab syndrome, MIM#613658;interstitial lung disease;brain calcifications;microcephaly;intellectual disability Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 29573043;19161147;29979980;30014610 False 3 100;0;0 0.84 True ENSG00000116120 ENSG00000116120 HGNC:17800 FAT4 gene FAT4 Expert list;Expert Review Green Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Hennekam Syndrome, MIM# 235510;childhood pulmonary lymphangiectasia Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 24913602;14564208 False 3 100;0;0 0.84 True ENSG00000196159 ENSG00000196159 HGNC:23109 FBLN5 gene FBLN5 Expert list;Expert Review Green Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IA, MIM# 219100;childhood-onset emphysema Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 0.84 True ENSG00000140092 ENSG00000140092 HGNC:3602 FBN1 gene FBN1 Expert list;Expert Review Green Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marfan syndrome, MIM# 154700;neonatal Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 31238364;27138491;17701892 False 3 100;0;0 0.84 True ENSG00000166147 ENSG00000166147 HGNC:3603 FLNA gene FLNA Expert Review Green;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Interstitial lung disease Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 30547349 False 3 100;0;0 0.84 True ENSG00000196924 ENSG00000196924 HGNC:3754 FOXF1 gene FOXF1 Expert Review;Expert Review Green Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 23505205;27071622;27855150;19500772 False 3 100;0;0 0.84 True ENSG00000103241 ENSG00000103241 HGNC:3809 GBA gene GBA Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders Unknown Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 0;0;0 0.84 False ENSG00000177628 ENSG00000177628 HGNC:4177 HPS1 gene HPS1 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders Unknown Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 0.84 False ENSG00000107521 ENSG00000107521 HGNC:5163 HPS4 gene HPS4 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders Unknown Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 0.84 False ENSG00000100099 ENSG00000100099 HGNC:15844 ITGA3 gene ITGA3 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 22512483;25810266;27717396;32198874;26854491 False 3 100;0;0 0.84 True ENSG00000005884 ENSG00000005884 HGNC:6139 MARS gene MARS Expert list;Expert Review Green Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Interstitial lung and liver disease, MIM#615486 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 24103465;25913036 False 3 100;0;0 0.84 True ENSG00000166986 ENSG00000166986 HGNC:6898 NAF1 gene NAF1 Expert Review Green;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MIM# 620365 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 27510903 False 3 100;0;0 0.84 True ENSG00000145414 ENSG00000145414 HGNC:25126 NHLRC2 gene NHLRC2 Expert Review Green;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 29423877;32435055 False 3 100;0;0 0.84 True ENSG00000196865 ENSG00000196865 HGNC:24731 NKX2-1 gene NKX2-1 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 10931427;27066577;26839702;26103969 False 3 100;0;0 0.84 True ENSG00000136352 ENSG00000136352 HGNC:11825 OAS1 gene OAS1 Expert Review Green;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 34145065;29455859 False 3 100;0;0 0.84 True Other ENSG00000089127 ENSG00000089127 HGNC:8086 PARN gene PARN Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders Unknown Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 0.84 False ENSG00000140694 ENSG00000140694 HGNC:8609 POLA2 gene POLA2 Expert Review Green;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Telomere biology syndrome MONDO:0100137 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 39616267 False 3 100;0;0 0.84 True ENSG00000014138 ENSG00000014138 HGNC:30073 RPA1 gene RPA1 Expert Review;Expert Review Green Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767;Bone marrow failure;T- and B-cell lymphopaenia;pulmonary fibrosis;skin manifestations;short telomeres Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 34767620 False 3 100;0;0 0.84 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000132383 ENSG00000132383 HGNC:10289 RTEL1 gene RTEL1 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 25848748;25607374;23959892 False 3 100;0;0 0.84 True ENSG00000258366 ENSG00000258366 HGNC:15888 SFTPA1 gene SFTPA1 Expert Review Green;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Idiopathic pulmonary fibrosis;Interstitial lung disease 1, MIM# 619611" Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 31601679;30854216;28869238;26792177;32855221 False 3 50;50;0 0.84 True ENSG00000122852 ENSG00000122852 HGNC:10798 SFTPA2 gene SFTPA2 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders Unknown Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 0.84 False ENSG00000185303 ENSG00000185303 HGNC:10799 SFTPB gene SFTPB Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders Unknown Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 0.84 False ENSG00000168878 ENSG00000168878 HGNC:10801 SFTPC gene SFTPC Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders Unknown Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 0.84 False ENSG00000168484 ENSG00000168484 HGNC:10802 SLC34A2 gene SLC34A2 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders Unknown Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 0.84 False ENSG00000157765 ENSG00000157765 HGNC:11020 SLC7A7 gene SLC7A7 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders Unknown Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 0.84 False ENSG00000155465 ENSG00000155465 HGNC:11065 SMPD1 gene SMPD1 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders Unknown Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 0.84 False ENSG00000166311 ENSG00000166311 HGNC:11120 TERC gene TERC Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders Unknown Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 0.84 False ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders Unknown Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 0.84 False ENSG00000164362 ENSG00000164362 HGNC:11730 TINF2 gene TINF2 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders Unknown Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 0.84 False ENSG00000092330 ENSG00000092330 HGNC:11824 TMEM173 gene TMEM173 Expert Review;Expert Review Green Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal "STING-associated vasculopathy, infantile-onset, MIM# 615934" Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 27613991;32398023;32673614 False 3 100;0;0 0.84 True ENSG00000184584 ENSG00000184584 HGNC:27962 WFDC2 gene WFDC2 Expert Review Green;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Bronchiectasis and nasal polyposis, MIM# 620984 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 38626355 False 3 100;0;0 0.84 True ENSG00000101443 ENSG00000101443 HGNC:15939 ZCCHC8 gene ZCCHC8 Expert Review Green;Other Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 31488579;38375433 False 3 50;50;0 0.84 True ENSG00000033030 ENSG00000033030 HGNC:25265 ACD gene ACD Expert Review Amber;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 31515401;27807141;25205116 False 2 0;100;0 0.84 True Other ENSG00000102977 ENSG00000102977 HGNC:25070