Interstitial Lung Disease (Version 1.2)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 76 Entitiess
Green Green List (high evidence)	ABCA3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921 Tags
Green Green List (high evidence)	ACVRL1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376 Childhood Pulmonary Arterial Hypertension Tags
Green Green List (high evidence)	AP3B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MIM# 603401 Hermansky–Pudlak syndrome (HPS2) Childhood pulmonary fibrosis Tags clinical trial treatable
Green Green List (high evidence)	BMPR2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Tags
Green Green List (high evidence)	CAV1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Pulmonary hypertension, primary, 3, MIM# 615343 Lipodystrophy, familial partial, type 7, MIM# 606721 Tags
Green Green List (high evidence)	CCBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hennekam Syndrome, MIM#235510 Tags
Green Green List (high evidence)	CCDC39	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 14, MIM# 613807 Tags
Green Green List (high evidence)	CCDC40	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 15, MIM#613808 Tags
Green Green List (high evidence)	CFTR	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Cystic fibrosis, MIM# 219700 Tags
Green Green List (high evidence)	COPA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autoimmune interstitial lung, joint, and kidney disease, MIM# 616414 Tags
Green Green List (high evidence)	CSF2RA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770 Tags
Green Green List (high evidence)	DNAAF1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 13, MIM# 613193 Tags
Green Green List (high evidence)	DNAAF2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 10, MIM# 612518 Tags
Green Green List (high evidence)	DNAAF3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Ciliary dyskinesia, primary, 2, MIM# 606763 Tags
Green Green List (high evidence)	DNAH11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884 Tags
Green Green List (high evidence)	DNAH5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644) Tags
Green Green List (high evidence)	DNAI1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400 Tags
Green Green List (high evidence)	DNAI2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444 Tags
Green Green List (high evidence)	DOCK8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM# 243700 Childhood bronchiectasis Tags treatable
Green Green List (high evidence)	EFEMP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437 Tags
Green Green List (high evidence)	ELN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cutis laxa, autosomal dominant, MIM# 123700 Tags
Green Green List (high evidence)	ENG	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300 Pulmonary arterial hypertension Tags
Green Green List (high evidence)	FAT4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hennekam Syndrome, MIM# 235510 childhood pulmonary lymphangiectasia Tags
Green Green List (high evidence)	FBLN5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cutis laxa, autosomal recessive, type IA, MIM# 219100 childhood-onset emphysema Tags
Green Green List (high evidence)	FBN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Marfan syndrome, MIM# 154700 Neonatal Marfan Syndrome - respiratory distress of the newborn/ pulmonary emphysema/ pneumothoraces. Tags
Green Green List (high evidence)	FGF10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes LADD syndrome, MIM# 149730 pulmonary hypoplasia Tags
Green Green List (high evidence)	FLNA	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Interstitial lung disease Tags
Green Green List (high evidence)	FOXF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380 Tags
Green Green List (high evidence)	GATA2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 21, MIM# 614172 MONDO:0042982 Emberger syndrome, MIM# 614038 MONDO:0013540 chILD, childhood pulmonary alveolar proteinosis Tags treatable
Green Green List (high evidence)	HPS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 1, MIM# 203300 Childhood pulmonary fibrosis Tags
Green Green List (high evidence)	HPS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 4, MIM# 614073 Childhood pulmonary fibrosis Tags
Green Green List (high evidence)	HRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Costello syndrome 218040 chILD, pulmonary arterial hypertension Tags
Green Green List (high evidence)	ITGA3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748 Tags
Green Green List (high evidence)	LRBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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) Tags
Green Green List (high evidence)	LTBP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cutis laxa, autosomal recessive, type IC, MIM# 613177 Urban-Rifkin-Davis Syndrome – cutis laxa Infant/Childhood emphysema Tags
Green Green List (high evidence)	MARS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Interstitial lung and liver disease, MIM#615486 Tags
Green Green List (high evidence)	NF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurofibromatosis, type 1, MIM# 162200 Diffuse interstitial lung disease Pulmonary hypertension Tags
Green Green List (high evidence)	NKX2-1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress, MIM# 610978 Tags
Green Green List (high evidence)	OAS1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Autoinflammatory immunodeficiency infantile-onset pulmonary alveolar proteinosis hypogammaglobulinaemia Tags
Green Green List (high evidence)	PHOX2B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, MIM# 209880 Tags
Green Green List (high evidence)	PIH1D3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Ciliary dyskinesia, primary, 36, X-linked, MIM# 300991 Tags
Green Green List (high evidence)	RPGR	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455 Tags
Green Green List (high evidence)	RSPH1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 24 (MIM#615481) Tags
Green Green List (high evidence)	RSPH4A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 11 (MIM#612649) Tags
Green Green List (high evidence)	RSPH9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 12 (MIM#612650) Tags
Green Green List (high evidence)	SFTPB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120 Tags
Green Green List (high evidence)	SFTPC	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913 Tags
Green Green List (high evidence)	SLC7A7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lysinuric protein intolerance, MIM# 222700 Childhood interstitial lung disease and pulmonary arterial proteinosis Tags
Green Green List (high evidence)	SMAD9	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Pulmonary hypertension, primary, 2 MIM#615342 Tags
Green Green List (high evidence)	SOX18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940 Tags
Green Green List (high evidence)	STAT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892 Childhood bronchiectasis Tags
Green Green List (high evidence)	STAT3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyper-IgE recurrent infection syndrome MIM# 147060 Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952 Childhood bronchiectasis, interstitial lung disease or pneumatocele Tags
Green Green List (high evidence)	STRA6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 9, MIM# 601186 Tags
Green Green List (high evidence)	TBX4	3 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891 Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360 Tags
Green Green List (high evidence)	TMEM173	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes STING-associated vasculopathy, infantile-onset, MIM# 615934 Tags
Amber Amber List (moderate evidence)	ASCL1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Central hypoventilation syndrome, congenital, MIM# 209880 Tags
Amber Amber List (moderate evidence)	BMPR1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Childhood pulmonary arterial hypertension Tags
Amber Amber List (moderate evidence)	CSF2RB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Surfactant metabolism dysfunction, pulmonary, 5, MIM#614370 Tags
Amber Amber List (moderate evidence)	DNAL1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 16, MIM# 614017 Tags
Amber Amber List (moderate evidence)	FGFR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Ectrodactyly, pulmonary acinar dysplasia Tags
Amber Amber List (moderate evidence)	FOXC2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus 153400 infant pulmonary lymphangiectasia Tags
Amber Amber List (moderate evidence)	KCNK3	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Pulmonary hypertension, primary, 4 MIM#615344 Tags
Amber Amber List (moderate evidence)	PGM3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency 23, MIM# 615816 HIES (Job syndrome) Bronchiectasis Tags
Amber Amber List (moderate evidence)	SCNN1A	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Victorian Clinical Genetics Services Phenotypes Bronchiectasis with or without elevated sweat chloride 2, MIM# 613021 MONDO:0013087 Tags
Amber Amber List (moderate evidence)	SCNN1B	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Victorian Clinical Genetics Services Phenotypes Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400) Tags
Amber Amber List (moderate evidence)	SFTPA1	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Victorian Clinical Genetics Services Phenotypes Idiopathic pulmonary fibrosis Interstitial lung disease 1, MIM# 619611 Tags
Amber Amber List (moderate evidence)	TINF2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal dominant 3, MIM# 613990 Tags
Amber Amber List (moderate evidence)	ZBTB7B	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Inborn error of immunity, MONDO:0003778, ZBTB7B-related Tags
Red Red List (low evidence)	CARD11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Immunodeficiency 11B with atopic dermatitis, MIM# 617638 HIES (Job syndrome) Bronchiectasis Tags
Red Red List (low evidence)	EDN3	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Central hypoventilation syndrome, congenital, MIM# 209880 Tags
Red Red List (low evidence)	FOXP1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypotonia, developmental delay, atrial septal defect - neuroendocrine hyperplasia of infancy (NEHI) Tags
Red Red List (low evidence)	GDNF	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Central hypoventilation syndrome, MIM# 209880 Tags
Red Red List (low evidence)	HPS6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 6, MIM# 614075 Tags
Red Red List (low evidence)	NME8	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 6 MIM#610852 Tags
Red Red List (low evidence)	RET	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Central hypoventilation syndrome, congenital, MIM#209880 Tags
Red Red List (low evidence)	ZNF341	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282 Bronchiectasis Tags

Interstitial Lung Disease (Version 1.2)

6 reviewers

76 Entities

76 reviewed, 55 green

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