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 Pulmonary fibrosis familial Respiratory BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 3, OMIM:610921 32238781;15044640;26780485;24730976;25553246 False 3 100;0;0 1.9 False ENSG00000167972 ENSG00000167972 HGNC:33 ACD gene ACD Expert Review Green Pulmonary fibrosis familial Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskeratosis congenita, autosomal dominant, OMIM:616553 30995915;31515401 False 3 100;0;0 1.9 False ENSG00000102977 ENSG00000102977 HGNC:25070 AP3B1 gene AP3B1 Expert Review Green Pulmonary fibrosis familial Respiratory BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 2, OMIM:608233 10024875;22009278;20301464 False 3 100;0;0 1.9 False ENSG00000132842 ENSG00000132842 HGNC:566 CSF2RA gene CSF2RA Expert Review Green Pulmonary fibrosis familial Respiratory BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 4, OMIM:300770 18955570;25425184 False 3 100;0;0 1.9 False ENSG00000198223 ENSG00000198223 HGNC:2435 CSF2RB gene CSF2RB Expert Review Green Pulmonary fibrosis familial Respiratory BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 5, OMIM:614370 15331184;21075760 False 3 100;0;0 1.9 False ENSG00000100368 ENSG00000100368 HGNC:2436 CTC1 gene CTC1 Expert Review Green Pulmonary fibrosis familial Respiratory BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199 30891747;33269665 False 3 100;0;0 1.9 False ENSG00000178971 ENSG00000178971 HGNC:26169 DKC1 gene DKC1 Expert Review Green Pulmonary fibrosis familial Respiratory X-LINKED: hemizygous mutation in males, biallelic mutations in females Dyskeratosis congenita, X-linked, OMIM:305000 21415081;9590285;24504062;30868555;23946118 False 3 100;0;0 1.9 False ENSG00000130826 ENSG00000130826 HGNC:2890 HPS1 gene HPS1 Expert Review Green Pulmonary fibrosis familial Respiratory BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 1, OMIM:203300 8896559;31619213;20301464 False 3 100;0;0 1.9 False ENSG00000107521 ENSG00000107521 HGNC:5163 HPS4 gene HPS4 Expert Review Green Pulmonary fibrosis familial Respiratory BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 4, OMIM:614073 11836498;31415434;20301464 False 3 100;0;0 1.9 False ENSG00000100099 ENSG00000100099 HGNC:15844 MARS gene MARS Expert Review Green Pulmonary fibrosis familial Respiratory BIALLELIC, autosomal or pseudoautosomal Interstitial lung and liver disease, OMIM:615486 32833345;30271085;24103465;25913036 False 3 100;0;0 1.9 False ENSG00000166986 ENSG00000166986 HGNC:6898 MUC5B gene MUC5B Expert Review Green Pulmonary fibrosis familial Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Pulmonary fibrosis, idiopathic, susceptibility to}, OMIM:178500 21506748;21506741;33639995;34907291;35078193 False 3 100;0;0 1.9 False ENSG00000117983 ENSG00000117983 HGNC:7516 NAF1 gene NAF1 Expert Review Green Pulmonary fibrosis familial Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, OMIM:620365;pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MONDO:0957261 27510903 False 3 100;0;0 1.9 False ENSG00000145414 ENSG00000145414 HGNC:25126 NHP2 gene NHP2 Expert Review Green Pulmonary fibrosis familial Respiratory BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 2, OMIM:613987 31985013 False 3 100;0;0 1.9 False ENSG00000145912 ENSG00000145912 HGNC:14377 NKX2-1 gene NKX2-1 Expert Review Green Pulmonary fibrosis familial Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978 19336474;9565498;23430038 False 3 100;0;0 1.9 False ENSG00000136352 ENSG00000136352 HGNC:11825 NOP10 gene NOP10 Expert Review Green Pulmonary fibrosis familial Respiratory BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 1, OMIM:224230 17507419 False 3 100;0;0 1.9 False ENSG00000182117 ENSG00000182117 HGNC:14378 PARN gene PARN Expert Review Green Pulmonary fibrosis familial Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371 26116823;25848748 False 3 100;0;0 1.9 False ENSG00000140694 ENSG00000140694 HGNC:8609 RTEL1 gene RTEL1 Expert Review Green Pulmonary fibrosis familial Respiratory BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, OMIM:616373 23959892;25607374;25848748 False 3 100;0;0 1.9 False ENSG00000258366 ENSG00000258366 HGNC:15888 SFTPA1 gene SFTPA1 Expert Review Green Pulmonary fibrosis familial Respiratory BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Interstitial lung disease 1, OMIM:619611 30854216;26792177;32855221;28869238;31601679 False 3 100;0;0 1.9 False ENSG00000122852 ENSG00000122852 HGNC:10798 SFTPA2 gene SFTPA2 Expert Review Green Pulmonary fibrosis familial Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Interstitial lung disease 2, OMIM:178500 19100526;26568241;32855221 False 3 100;0;0 1.9 False ENSG00000185303 ENSG00000185303 HGNC:10799 SFTPB gene SFTPB Expert Review Green Pulmonary fibrosis familial Respiratory BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 1, OMIM:265120 8163685;15331184 False 3 100;0;0 1.9 False ENSG00000168878 ENSG00000168878 HGNC:10801 SFTPC gene SFTPC Expert Review Green Pulmonary fibrosis familial Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Surfactant metabolism dysfunction, pulmonary, 2, OMIM:610913 11207353;17005585;20656946;20301408 False 3 100;0;0 1.9 False ENSG00000168484 ENSG00000168484 HGNC:10802 TERC gene TERC Expert Review Green Pulmonary fibrosis familial Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Pulmonary fibrosis, idiopathic, susceptibility to}, OMIM:614743 17392301;27836952;20301408;21436073 False 3 100;0;0 1.9 False ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT Expert Review Green Pulmonary fibrosis familial Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742 17392301;27836952;16247010 False 3 100;0;0 1.9 False ENSG00000164362 ENSG00000164362 HGNC:11730 TINF2 gene TINF2 Expert Review Green Pulmonary fibrosis familial Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskeratosis congenita, autosomal dominant 3, OMIM:613990 18252230;21477109 False 3 100;0;0 1.9 False ENSG00000092330 ENSG00000092330 HGNC:11824 ZCCHC8 gene ZCCHC8 Expert Review Green Pulmonary fibrosis familial Respiratory MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5, OMIM:618674 31488579;38375433 False 3 100;0;0 1.9 False ENSG00000033030 ENSG00000033030 HGNC:25265 RPA1 gene RPA1 Expert Review Amber;Literature Pulmonary fibrosis familial Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, OMIM:619767 34767620 False 2 50;50;0 1.9 False 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