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
ASCL1	gene	ASCL1	Expert Review Amber;Victorian Clinical Genetics Services	Interstitial Lung Disease		Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Central hypoventilation syndrome, congenital, MIM# 209880				14532329		False	2	0;100;0	1.6	True		ENSG00000139352	ENSG00000139352	HGNC:738													
CSF2RB	gene	CSF2RB	Expert Review Amber;Victorian Clinical Genetics Services	Interstitial Lung Disease		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Surfactant metabolism dysfunction, pulmonary, 5, MIM#614370				21205713;27514590;7568173;30846703		False	2	0;100;0	1.6	True		ENSG00000100368	ENSG00000100368	HGNC:2436													
DNAL1	gene	DNAL1	Expert Review Amber;Victorian Clinical Genetics Services	Interstitial Lung Disease		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 16, MIM# 614017				21496787		False	2	0;100;0	1.6	True		ENSG00000119661	ENSG00000119661	HGNC:23247													
FGFR2	gene	FGFR2	Expert Review Amber;Victorian Clinical Genetics Services	Interstitial Lung Disease		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Ectrodactyly, pulmonary acinar dysplasia				27323706		False	2	0;100;0	1.6	True		ENSG00000066468	ENSG00000066468	HGNC:3689													
FOXC2	gene	FOXC2	Expert Review Amber;Victorian Clinical Genetics Services	Interstitial Lung Disease		Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus	153400;infant pulmonary lymphangiectasia"				21918810;25252123		False	2	0;100;0	1.6	True		ENSG00000176692	ENSG00000176692	HGNC:3801													
KCNK3	gene	KCNK3	Expert list;Expert Review Amber	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				23883380;27649371		False	2	0;100;0	1.6	True		ENSG00000171303	ENSG00000171303	HGNC:6278													
PGM3	gene	PGM3	Expert list;Expert Review Amber	Interstitial Lung Disease		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	"Immunodeficiency 23, MIM#	615816;HIES (Job syndrome);Bronchiectasis"				24698316;24589341;28704707;30264496		False	2	0;100;0	1.6	True		ENSG00000013375	ENSG00000013375	HGNC:8907													
SCNN1A	gene	SCNN1A	Expert Review;Expert Review Amber;Victorian Clinical Genetics Services	Interstitial Lung Disease		Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bronchiectasis with or without elevated sweat chloride 2, MIM# 613021;MONDO:0013087				22207244;19017867;19462466		False	2	33;67;0	1.6	True		ENSG00000111319	ENSG00000111319	HGNC:10599													
SCNN1B	gene	SCNN1B	Expert Review;Expert Review Amber;Victorian Clinical Genetics Services	Interstitial Lung Disease		Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400)				22207244;16207733;18507830		False	2	33;67;0	1.6	True		ENSG00000168447	ENSG00000168447	HGNC:10600													
SFTPA1	gene	SFTPA1	Expert Review Amber;Literature;Victorian Clinical Genetics Services	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"				31601679;30854216;28869238;26792177		False	2	0;100;0	1.6	True		ENSG00000122852	ENSG00000122852	HGNC:10798													
TINF2	gene	TINF2	Expert Review Amber;Victorian Clinical Genetics Services	Interstitial Lung Disease		Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Dyskeratosis congenita, autosomal dominant 3, MIM# 613990				18669893;21199492;18252230;21477109;33097095		False	2	50;50;0	1.6	True		ENSG00000092330	ENSG00000092330	HGNC:11824													
ZBTB7B	gene	ZBTB7B	Expert Review Amber;Literature	Interstitial Lung Disease		Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Inborn error of immunity, MONDO:0003778, ZBTB7B-related				PMID: 40392549		False	2	0;100;0	1.6	True	Other	ENSG00000160685	ENSG00000160685	HGNC:18668