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 1.11 True ENSG00000167972 ENSG00000167972 HGNC:33 ACD gene ACD Expert Review Green;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 31515401;27807141;25205116;38176734;31515401 False 3 50;50;0 1.11 True ENSG00000102977 ENSG00000102977 HGNC:25070 ACVRL1 gene ACVRL1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376;Childhood Pulmonary Arterial Hypertension Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 22632830;27587546 False 3 100;0;0 1.11 True ENSG00000139567 ENSG00000139567 HGNC:175 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 1.11 True ENSG00000072364 ENSG00000072364 HGNC:17869 AIRE gene AIRE Expert Review Green;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 34401309;31167928;28458664 False 3 100;0;0 1.11 True ENSG00000160224 ENSG00000160224 HGNC:360 AP3B1 gene AP3B1 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 2, MIM# 608233;MONDO:0011997 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 10024875;11809908;14566336 False 3 100;0;0 1.11 True ENSG00000132842 ENSG00000132842 HGNC:566 BMPR2 gene BMPR2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_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 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 27587546;24355637;22632830;11115378 False 3 100;0;0 1.11 True ENSG00000204217 ENSG00000204217 HGNC:1078 CAV1 gene CAV1 Expert list;Expert Review Green Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Pulmonary hypertension, primary, 3, MIM# 615343;Lipodystrophy, familial partial, type 7, MIM# 606721" Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 27717241;22474227 False 3 100;0;0 1.11 True ENSG00000105974 ENSG00000105974 HGNC:1527 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 1.11 True ENSG00000183287 ENSG00000183287 HGNC:29426 CCR2 gene CCR2 Expert Review Green;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Polycystic lung disease MIM#219600 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 40432300;40325923;38157855 False 3 100;0;0 1.11 True ENSG00000121807 ENSG00000121807 HGNC:1603 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 1.11 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 1.11 True ENSG00000122218 ENSG00000122218 HGNC:2230 CSF2RA gene CSF2RA Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 20622029;25425184;18955570 False 3 100;0;0 1.11 True ENSG00000198223 ENSG00000198223 HGNC:2435 CSF2RB gene CSF2RB Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 5, MIM#614370 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 21205713;27514590;7568173;30846703 False 3 100;0;0 1.11 True ENSG00000100368 ENSG00000100368 HGNC:2436 DKC1 gene DKC1 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Dyskeratosis congenita, X-linked 305000;Hoyeraal-Hreidarsson Syndrome Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 31269755;26951492;29081935;25940403 False 3 100;0;0 1.11 True 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 1.11 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 1.11 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 1.11 True ENSG00000049540 ENSG00000049540 HGNC:3327 FAM111B gene FAM111B Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 24268661;26471370;26495788;27406236 False 3 100;0;0 1.11 True 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 1.11 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 1.11 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 1.11 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 1.11 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 1.11 True ENSG00000166147 ENSG00000166147 HGNC:3603 FGF10 gene FGF10 Expert list;Expert Review Green Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lacrimoauriculodentodigital (LAAD) syndrome - pulmonary hypoplasia Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 30639323;30429870;9916808 False 3 100;0;0 1.11 True ENSG00000070193 ENSG00000070193 HGNC:3666 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 1.11 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 1.11 True ENSG00000103241 ENSG00000103241 HGNC:3809 GATA2 gene GATA2 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_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 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 21670465;21242295;21892158;25707267;6577833;24345756;24227816 False 3 100;0;0 1.11 True ENSG00000179348 ENSG00000179348 HGNC:4171 GBA gene GBA Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Gaucher disease, type I, MIM# 230800 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 False 3 100;0;0 1.11 True ENSG00000177628 ENSG00000177628 HGNC:4177 HPS1 gene HPS1 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 1, MIM# 203300;MONDO:0008748 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 9497254 False 3 100;0;0 1.11 True ENSG00000107521 ENSG00000107521 HGNC:5163 HPS4 gene HPS4 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 4, MIM# 614073;MONDO:0013556 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 11836498;12664304 False 3 100;0;0 1.11 True ENSG00000100099 ENSG00000100099 HGNC:15844 HRAS gene HRAS Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Costello syndrome 218040;chILD, pulmonary arterial hypertension" Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 18039947;18978662;27102959 False 3 100;0;0 1.11 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 IARS gene IARS Expert Review Green;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 40635052;39950113 False 3 100;0;0 1.11 True ENSG00000196305 ENSG00000196305 HGNC:5330 IDUA gene IDUA Expert Review Green;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type 1, MONDO:0001586 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 37218880;29654546 False 3 100;0;0 1.11 True ENSG00000127415 ENSG00000127415 HGNC:5391 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 1.11 True ENSG00000005884 ENSG00000005884 HGNC:6139 KCNK3 gene KCNK3 Expert list;Expert Review Green Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Pulmonary hypertension, primary, 4 MIM#615344 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 23883380;27649371 False 3 75;25;0 1.11 True ENSG00000171303 ENSG00000171303 HGNC:6278 LAMP3 gene LAMP3 Expert Review Green;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Interstitial lung disease, MONDO:0015925, LAMP3-related Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 40023045;34161347;41653023 False 3 100;0;0 1.11 True ENSG00000078081 ENSG00000078081 HGNC:14582 LRBA gene LRBA Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_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)" Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 25468195;30479781;26768763;28956255;28512785 False 3 100;0;0 1.11 True ENSG00000198589 ENSG00000198589 HGNC:1742 LTBP4 gene LTBP4 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_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" Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 22829427;19836010;28684544 False 3 100;0;0 1.11 True ENSG00000090006 ENSG00000090006 HGNC:6717 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 1.11 True ENSG00000166986 ENSG00000166986 HGNC:6898 MMACHC gene MMACHC Expert Review Green;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 33231183;32293809 False 3 100;0;0 1.11 True ENSG00000132763 ENSG00000132763 HGNC:24525 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 1.11 True ENSG00000145414 ENSG00000145414 HGNC:25126 NF1 gene NF1 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis, type 1, MIM# 162200;Diffuse interstitial lung disease;Pulmonary hypertension Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 33446201;32742882;32437637 False 3 100;0;0 1.11 True ENSG00000196712 ENSG00000196712 HGNC:7765 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 1.11 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 1.11 True ENSG00000136352 ENSG00000136352 HGNC:11825 NPC2 gene NPC2 Expert Review Green;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type C2 MIM#607625 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 36553254;26024245;25772320 False 3 100;0;0 1.11 True ENSG00000119655 ENSG00000119655 HGNC:14537 NSMCE3 gene NSMCE3 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 27427983;40728043;33741030 False 3 50;50;0 1.11 True ENSG00000185115 ENSG00000185115 HGNC:7677 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 1.11 True Other ENSG00000089127 ENSG00000089127 HGNC:8086 PARN gene PARN Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 6, MIM# 616353;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 25893599;26342108;25848748 False 3 100;0;0 1.11 True ENSG00000140694 ENSG00000140694 HGNC:8609 PHOX2B gene PHOX2B Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, MIM# 209880 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 20301600 False 3 100;0;0 1.11 True ENSG00000109132 ENSG00000109132 HGNC:9143 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 1.11 True ENSG00000014138 ENSG00000014138 HGNC:30073 PTPN2 gene PTPN2 Expert Review Green;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inborn error of immunity, MONDO:0003778 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 41545210;39028869;39959585 False 3 100;0;0 1.11 True ENSG00000175354 ENSG00000175354 HGNC:9650 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 1.11 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 1.11 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 1.11 True ENSG00000122852 ENSG00000122852 HGNC:10798 SFTPA2 gene SFTPA2 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary fibrosis, idiopathic, MIM# 178500 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 19100526;32602668 False 3 100;0;0 1.11 True ENSG00000185303 ENSG00000185303 HGNC:10799 SFTPB gene SFTPB Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 8163685;8021783;10378403;10571948 False 3 100;0;0 1.11 True ENSG00000168878 ENSG00000168878 HGNC:10801 SFTPC gene SFTPC Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 11207353;11991887;11893657;15557112;19443464 False 3 100;0;0 1.11 True ENSG00000168484 ENSG00000168484 HGNC:10802 SLC34A2 gene SLC34A2 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Pulmonary alveolar microlithiasis, MIM# 265100 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 16960801;34581165;33884208;32328294;31941744 False 3 100;0;0 1.11 True ENSG00000157765 ENSG00000157765 HGNC:11020 SLC7A7 gene SLC7A7 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Lysinuric protein intolerance, MIM# 222700 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 10080182;18716612 False 3 100;0;0 1.11 True ENSG00000155465 ENSG00000155465 HGNC:11065 SMAD9 gene SMAD9 Expert list;Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary hypertension, primary, 2 MIM#615342 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 29844917;21920918;19211612;21898662 False 3 100;0;0 1.11 True ENSG00000120693 ENSG00000120693 HGNC:6774 SMPD1 gene SMPD1 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type A, MIM# 257200;MONDO:0009756;Niemann-Pick disease, type B, MIM# 607616;MONDO:0011871 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 32292456;32280632;28164782 False 3 100;0;0 1.11 True ENSG00000166311 ENSG00000166311 HGNC:11120 SOX18 gene SOX18 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940" Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 30549413;33851505 False 3 100;0;0 1.11 True ENSG00000203883 ENSG00000203883 HGNC:11194 SRRM2 gene SRRM2 Expert Review Green;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Intellectual developmental disorder, autosomal dominant 72, MIM# 620439" Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 40967764 False 3 100;0;0 1.11 True ENSG00000167978 ENSG00000167978 HGNC:16639 STAT1 gene STAT1 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892;Childhood bronchiectasis" Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 28427548;28367431;21727188;27379765;26732859;27114460 False 3 100;0;0 1.11 True ENSG00000115415 ENSG00000115415 HGNC:11362 STAT3 gene STAT3 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_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 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 17881745;14566054;25349174;25038750;25359994 False 3 100;0;0 1.11 True Other ENSG00000168610 ENSG00000168610 HGNC:11364 STRA6 gene STRA6 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Microphthalmia, syndromic 9, MIM# 601186 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 17273977;17503335;19213032;26373900;30880327;26373900;25457163 False 3 100;0;0 1.11 True ENSG00000137868 ENSG00000137868 HGNC:30650 TBX4 gene TBX4 Expert list;Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_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 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 31761294;31965066;29631995;23592887;30578383 False 3 100;0;0 1.11 True ENSG00000121075 ENSG00000121075 HGNC:11603 TERC gene TERC Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita, autosomal dominant 1, MIM# 127550;Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 11574891 False 3 100;0;0 1.11 True ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, MIM# 613989;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 16247010;15814878 False 3 100;0;0 1.11 True ENSG00000164362 ENSG00000164362 HGNC:11730 TINF2 gene TINF2 Expert Review Green;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita, autosomal dominant 3, MIM# 613990;Revesz syndrome, MIM# 268130 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 18252230;21477109;18979121;18669893;21199492;33097095 False 3 50;50;0 1.11 True 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 1.11 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 1.11 True ENSG00000101443 ENSG00000101443 HGNC:15939 XPOT gene XPOT Expert Review Green;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 10.64898/2026.01.28.26344748 False 3 100;0;0 1.11 True ENSG00000184575 ENSG00000184575 HGNC:12826 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 1.11 True ENSG00000033030 ENSG00000033030 HGNC:25265 ASCL1 gene ASCL1 Expert Review Amber;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Central hypoventilation syndrome, congenital, MIM# 209880 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 14532329 False 2 0;100;0 1.11 True ENSG00000139352 ENSG00000139352 HGNC:738 FGFR2 gene FGFR2 Expert Review Amber;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Crouzon, Apert, Antley-Bixler, Pfeiffer - respiratory distress of the newborn associated with upper airway obstruction/ tracheal anomalies. Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 27323706 False 2 0;100;0 1.11 True ENSG00000066468 ENSG00000066468 HGNC:3689 FOXC2 gene FOXC2 Expert Review Amber;Victorian Clinical Genetics Services Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus 153400;infant pulmonary lymphangiectasia" Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 21918810;25252123 False 2 0;100;0 1.11 True ENSG00000176692 ENSG00000176692 HGNC:3801 HMOX1 gene HMOX1 Expert Review Amber;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Heme oxygenase-1 deficiency, MIM# 614034 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 38178812;33066778 False 2 0;100;0 1.11 True ENSG00000100292 ENSG00000100292 HGNC:5013 IFIH1 gene IFIH1 Expert Review Amber;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aicardi-Goutieres syndrome 7, MIM#615846 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 37126154;32508843 False 2 0;100;0 1.11 True ENSG00000115267 ENSG00000115267 HGNC:18873 NDUFAF6 gene NDUFAF6 Expert Review Amber;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Fanconi renotubular syndrome 5, MIM# 618913 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 27466185 False 2 0;100;0 1.11 True ENSG00000156170 ENSG00000156170 HGNC:28625 NHP2 gene NHP2 Expert Review;Expert Review Amber Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 2 MONDO:0013519 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 40352450;40073202 False 2 0;50;50 1.11 True ENSG00000145912 ENSG00000145912 HGNC:14377 PGM3 gene PGM3 Expert list;Expert Review Amber Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 23, MIM# 615816;HIES (Job syndrome);Bronchiectasis" Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 24698316;24589341;28704707;30264496 False 2 0;100;0 1.11 True ENSG00000013375 ENSG00000013375 HGNC:8907 POT1 gene POT1 Expert Review Amber;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Telomere syndrome, MONDO:0100137, POT1-related Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 35420632;30995915 False 2 0;100;0 1.11 True ENSG00000128513 ENSG00000128513 HGNC:17284 ZBTB7B gene ZBTB7B Expert Review Amber;Literature Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inborn error of immunity, MONDO:0003778, ZBTB7B-related Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 PMID: 40392549 False 2 0;100;0 1.11 True Other ENSG00000160685 ENSG00000160685 HGNC:18668 PHOX2B_CCHS_GCN str PHOX2B Expert list;Expert Review Green;Expert list Pulmonary Fibrosis_Interstitial Lung Disease Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880 Pulmonary fibrosis;HP:0002206; Abnormal pulmonary interstitial morphology;HP:0006530 12640453;34012823;20301600;18798833 False 3 100;0;0 1.11 False ENSG00000109132 ENSG00000109132 HGNC:9143 4 41747989 41748048 41745972 41746031 GCN 20 25