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 ACVRL1 gene ACVRL1 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Telangiectasia, hereditary hemorrhagic, type 2 False 1 0;0;100 1.32 False ENSG00000139567 ENSG00000139567 HGNC:175 ASCL1 gene ASCL1 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Central hypoventilation syndrome, congenital False 1 0;0;100 1.32 False ENSG00000139352 ENSG00000139352 HGNC:738 BDNF gene BDNF Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Central hypoventilation syndrome, congenital False 1 0;0;100 1.32 False ENSG00000176697 ENSG00000176697 HGNC:1033 BLOC1S3 gene BLOC1S3 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 8, 614077 16385460 False 1 0;0;100 1.32 False ENSG00000189114 ENSG00000189114 HGNC:20914 BLOC1S6 gene BLOC1S6 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-pudlak syndrome 9, 614171 21665000 False 1 0;0;100 1.32 False ENSG00000104164 ENSG00000104164 HGNC:8549 BMPR2 gene BMPR2 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary hypertension, familial primary, 1, with or without HHT;Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated;Pulmonary venoocclusive disease 1 False 1 0;0;100 1.32 False ENSG00000204217 ENSG00000204217 HGNC:1078 CCDC39 gene CCDC39 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Ciliary dyskinesia, primary, 14 False 1 0;0;100 1.32 False ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC40 gene CCDC40 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Ciliary dyskinesia, primary, 15 False 1 0;0;100 1.32 False ENSG00000141519 ENSG00000141519 HGNC:26090 CFTR gene CFTR Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Cystic fibrosis False 1 0;0;100 1.32 False ENSG00000001626 ENSG00000001626 HGNC:1884 DNAAF1 gene DNAAF1 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000154099 ENSG00000154099 HGNC:30539 DNAAF2 gene DNAAF2 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000165506 ENSG00000165506 HGNC:20188 DNAH11 gene DNAH11 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000105877 ENSG00000105877 HGNC:2942 DNAH5 gene DNAH5 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000039139 ENSG00000039139 HGNC:2950 DNAI1 gene DNAI1 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000122735 ENSG00000122735 HGNC:2954 DNAI2 gene DNAI2 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000171595 ENSG00000171595 HGNC:18744 DNAL1 gene DNAL1 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000119661 ENSG00000119661 HGNC:23247 DOCK8 gene DOCK8 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000107099 ENSG00000107099 HGNC:19191 DTNBP1 gene DTNBP1 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 7 614076 12923531 False 1 0;0;100 1.32 False ENSG00000047579 ENSG00000047579 HGNC:17328 EDN3 gene EDN3 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000124205 ENSG00000124205 HGNC:3178 EFEMP2 gene EFEMP2 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000172638 ENSG00000172638 HGNC:3219 ELMOD2 gene ELMOD2 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Fibrosis and Hermansky-Pudlak Syndrome;Pulmonary Disease 16773575 False 1 0;100;0 1.32 False ENSG00000179387 ENSG00000179387 HGNC:28111 ELN gene ELN Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000049540 ENSG00000049540 HGNC:3327 ENG gene ENG Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000106991 ENSG00000106991 HGNC:3349 FBLN5 gene FBLN5 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000140092 ENSG00000140092 HGNC:3602 FLCN gene FLCN Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000154803 ENSG00000154803 HGNC:27310 GDNF gene GDNF Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000168621 ENSG00000168621 HGNC:4232 HPS3 gene HPS3 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 3 614072 11455388 False 1 0;0;100 1.32 False ENSG00000163755 ENSG00000163755 HGNC:15597 HPS5 gene HPS5 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 5 614074 12548288 False 1 0;0;100 1.32 False ENSG00000110756 ENSG00000110756 HGNC:17022 HPS6 gene HPS6 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 6 614075 19843503 False 1 0;0;100 1.32 False ENSG00000166189 ENSG00000166189 HGNC:18817 LTBP4 gene LTBP4 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000090006 ENSG00000090006 HGNC:6717 MUC5B gene MUC5B Eligibility statement prior genetic testing;Expert Review Red;Radboud University Medical Center, Nijmegen Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 21506741 False 1 0;50;50 1.32 False ENSG00000117983 ENSG00000117983 HGNC:7516 NF1 gene NF1 Expert Review Red;Literature Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis, type 1 162200 16870664;15331184 False 1 33;0;67 1.32 False ENSG00000196712 ENSG00000196712 HGNC:7765 NME8 gene NME8 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000086288 ENSG00000086288 HGNC:16473 PHOX2B gene PHOX2B Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000109132 ENSG00000109132 HGNC:9143 RET gene RET Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000165731 ENSG00000165731 HGNC:9967 RSPH4A gene RSPH4A Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000111834 ENSG00000111834 HGNC:21558 RSPH9 gene RSPH9 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000172426 ENSG00000172426 HGNC:21057 SCNN1A gene SCNN1A Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000111319 ENSG00000111319 HGNC:10599 SCNN1B gene SCNN1B Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000168447 ENSG00000168447 HGNC:10600 SCNN1G gene SCNN1G Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000166828 ENSG00000166828 HGNC:10602 SERPINA1 gene SERPINA1 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000197249 ENSG00000197249 HGNC:8941 SFTPA1 gene SFTPA1 Expert Review Red;Radboud University Medical Center, Nijmegen Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500;familial idiopathic pulmonary fibrosis 26792177;13680361;22884059 False 1 25;25;50 1.32 False ENSG00000122852 ENSG00000122852 HGNC:10798 SFTPD gene SFTPD Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders False 1 0;0;100 1.32 False ENSG00000133661 ENSG00000133661 HGNC:10803 SMAD9 gene SMAD9 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000120693 ENSG00000120693 HGNC:6774 STAT3 gene STAT3 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders Pulmonary Disease False 1 0;0;100 1.32 False ENSG00000168610 ENSG00000168610 HGNC:11364 TSC1 gene TSC1 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis-1 191100 20301399;26104489;15331184 False 1 0;33;67 1.32 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Emory Genetics Laboratory;Expert Review Red Familial pulmonary fibrosis Interstitial lung disorders Respiratory disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis-2 613254 15331184;26104489 False 1 0;33;67 1.32 False ENSG00000103197 ENSG00000103197 HGNC:12363