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;NHS GMS Childhood interstitial lung disease Respiratory BIALLELIC, autosomal or pseudoautosomal interstitial lung disease due to ABCA3 deficiency, MONDO:0012582;Surfactant metabolism dysfunction, pulmonary, 3, OMIM:610921 False 3 100;0;0 0.9 False ENSG00000167972 ENSG00000167972 HGNC:33 BMPR2 gene BMPR2 Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary hypertension, familial primary, 1, with or without HHT, OMIM:178600;pulmonary hypertension, primary, 1, MONDO:0024533;Pulmonary venoocclusive disease 1, OMIM:265450;Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, OMIM:178600;pulmonary venoocclusive disease 1, MONDO:0020713 False 3 100;0;0 0.9 False ENSG00000204217 ENSG00000204217 HGNC:1078 COPA gene COPA Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autoimmune interstitial lung disease-arthritis syndrome, MONDO:0014629;{Autoinflammation and autoimmunity, systemic, with immune dysregulation 1}, OMIM:616414 False 3 100;0;0 0.9 False ENSG00000122218 ENSG00000122218 HGNC:2230 CSF2RA gene CSF2RA Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 4, OMIM:300770;surfactant metabolism dysfunction, pulmonary, 4, MONDO:0010424 False 3 100;0;0 0.9 False ENSG00000198223 ENSG00000198223 HGNC:2435 CSF2RB gene CSF2RB Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 5, OMIM:614370;surfactant metabolism dysfunction, pulmonary, 5, MONDO:0013712 False 3 100;0;0 0.9 False ENSG00000100368 ENSG00000100368 HGNC:2436 FARSA gene FARSA Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory BIALLELIC, autosomal or pseudoautosomal ?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013;Rajab interstitial lung disease with brain calcifications 2, MONDO:0100220 False 3 100;0;0 0.9 False ENSG00000179115 ENSG00000179115 HGNC:3592 FARSB gene FARSB Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory BIALLELIC, autosomal or pseudoautosomal Rajab interstitial lung disease with brain calcifications 1, OMIM:613658;Rajab interstitial lung disease with brain calcifications 1, MONDO:0100215 False 3 100;0;0 0.9 False ENSG00000116120 ENSG00000116120 HGNC:17800 FLNA gene FLNA Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) heterotopia, periventricular, X-linked dominant, MONDO:0010233;Heterotopia, periventricular, 1, OMIM:300049 False 3 100;0;0 0.9 False ENSG00000196924 ENSG00000196924 HGNC:3754 FOXF1 gene FOXF1 Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alveolar capillary dysplasia with misalignment of pulmonary veins, OMIM:265380;alveolar capillary dysplasia with misalignment of pulmonary veins, MONDO:0009934 False 3 100;0;0 0.9 False ENSG00000103241 ENSG00000103241 HGNC:3809 GATA2 gene GATA2 Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 21, OMIM:614172;monocytopenia with susceptibility to infections, MONDO:0013607 False 3 100;0;0 0.9 False ENSG00000179348 ENSG00000179348 HGNC:4171 ITGA3 gene ITGA3 Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory BIALLELIC, autosomal or pseudoautosomal epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome, MONDO:0013881;Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome, OMIM:614748 False 3 100;0;0 0.9 False ENSG00000005884 ENSG00000005884 HGNC:6139 LRBA gene LRBA Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700;combined immunodeficiency due to LRBA deficiency, MONDO:0013863 False 3 100;0;0 0.9 False ENSG00000198589 ENSG00000198589 HGNC:1742 MARS gene MARS Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory BIALLELIC, autosomal or pseudoautosomal severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, MONDO:0014206;Interstitial lung and liver disease, OMIM:615486 False 3 100;0;0 0.9 False ENSG00000166986 ENSG00000166986 HGNC:6898 NAF1 gene NAF1 Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MONDO:0957261;Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, OMIM:620365 False 3 100;0;0 0.9 False ENSG00000145414 ENSG00000145414 HGNC:25126 NKX2-1 gene NKX2-1 Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978;NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520 False 3 100;0;0 0.9 False ENSG00000136352 ENSG00000136352 HGNC:11825 OAS1 gene OAS1 Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia, OMIM:618042;pulmonary alveolar proteinosis with hypogammaglobulinemia, MONDO:0020840 False 3 100;0;0 0.9 False ENSG00000089127 ENSG00000089127 HGNC:8086 PARN gene PARN Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4, MONDO:0014612;Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4, OMIM:616371 False 3 100;0;0 0.9 False ENSG00000140694 ENSG00000140694 HGNC:8609 PSMB4 gene PSMB4 Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory BIALLELIC, autosomal or pseudoautosomal proteasome-associated autoinflammatory syndrome 3, MONDO:0054699;?Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591 False 3 100;0;0 0.9 False ENSG00000159377 ENSG00000159377 HGNC:9541 PSMB8 gene PSMB8 Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory BIALLELIC, autosomal or pseudoautosomal proteasome-associated autoinflammatory syndrome 1, MONDO:0054698;Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 False 3 100;0;0 0.9 False ENSG00000204264 ENSG00000204264 HGNC:9545 PSMB9 gene PSMB9 Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted proteasome-associated autoinflammatory syndrome 6, MONDO:0968983;Proteasome-associated autoinflammatory syndrome 6, OMIM:620796 False 3 100;0;0 0.9 False ENSG00000240065 ENSG00000240065 HGNC:9546 RTEL1 gene RTEL1 Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3, OMIM:616373;pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3, MONDO:0014613 False 3 100;0;0 0.9 False ENSG00000258366 ENSG00000258366 HGNC:15888 SFTPA1 gene SFTPA1 Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Interstitial lung disease 1, OMIM:619611;interstitial lung disease 1, MONDO:0030608 False 3 100;0;0 0.9 False ENSG00000122852 ENSG00000122852 HGNC:10798 SFTPA2 gene SFTPA2 Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted interstitial lung disease 2, MONDO:0800497;Interstitial lung disease 2, OMIM:178500 False 3 100;0;0 0.9 False ENSG00000185303 ENSG00000185303 HGNC:10799 SFTPB gene SFTPB Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 1, OMIM:265120;surfactant metabolism dysfunction, pulmonary, 1, MONDO:0009929 False 3 100;0;0 0.9 False ENSG00000168878 ENSG00000168878 HGNC:10801 SFTPC gene SFTPC Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Surfactant metabolism dysfunction, pulmonary, 2, OMIM:610913;SFTPC-related interstitial lung disease, MONDO:0018603;surfactant metabolism dysfunction, pulmonary, 2, MONDO:0024465 False 3 100;0;0 0.9 False ENSG00000168484 ENSG00000168484 HGNC:10802 SLC34A2 gene SLC34A2 Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory BIALLELIC, autosomal or pseudoautosomal Pulmonary alveolar microlithiasis, OMIM:265100;pulmonary alveolar microlithiasis, MONDO:0009928 False 3 100;0;0 0.9 False ENSG00000157765 ENSG00000157765 HGNC:11020 SLC7A7 gene SLC7A7 Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory BIALLELIC, autosomal or pseudoautosomal Lysinuric protein intolerance, OMIM:222700;lysinuric protein intolerance, MONDO:0009109 False 3 100;0;0 0.9 False ENSG00000155465 ENSG00000155465 HGNC:11065 STAT1 gene STAT1 Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, OMIM:614162;autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, MONDO:0013599 False 3 100;0;0 0.9 False ENSG00000115415 ENSG00000115415 HGNC:11362 STAT5B gene STAT5B Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory BIALLELIC, autosomal or pseudoautosomal Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590;growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MONDO:0100211 False 3 100;0;0 0.9 False ENSG00000173757 ENSG00000173757 HGNC:11367 TBX4 gene TBX4 Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal autosomal recessive amelia, MONDO:0011054;Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891;Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, OMIM:601360;congenital alveolar dysplasia due to TBX4, MONDO:0100097 False 3 100;0;0 0.9 False ENSG00000121075 ENSG00000121075 HGNC:11603 TERC gene TERC Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted dyskeratosis congenita, autosomal dominant 1, MONDO:0007485;Dyskeratosis congenita, autosomal dominant 1, OMIM:127550;pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2, MONDO:0013879;Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, OMIM:614743 False 3 100;0;0 0.9 False ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1, OMIM:614742;Dyskeratosis congenita, autosomal recessive 4, OMIM:613989;Dyskeratosis congenita, autosomal dominant 2, OMIM:613989;dyskeratosis congenita, autosomal dominant 2, MONDO:0013521;pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1, MONDO:0013878 False 3 100;0;0 0.9 False ENSG00000164362 ENSG00000164362 HGNC:11730 TINF2 gene TINF2 Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita, autosomal dominant 3, OMIM:613990 False 3 100;0;0 0.9 False ENSG00000092330 ENSG00000092330 HGNC:11824 TMEM173 gene TMEM173 Expert Review Green;NHS GMS Childhood interstitial lung disease Respiratory MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STING-associated vasculopathy with onset in infancy, MONDO:0014405;STING-associated vasculopathy, infantile-onset, OMIM:615934 False 3 100;0;0 0.9 False ENSG00000184584 ENSG00000184584 HGNC:27962