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
BMPR1B	gene	BMPR1B	Expert list;Expert Review Red	Interstitial Lung Disease		Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Childhood pulmonary arterial hypertension				22374147;28768485		False	1	0;50;50	1.6	True	Other	ENSG00000138696	ENSG00000138696	HGNC:1077													
CARD11	gene	CARD11	Expert list;Expert Review Red	Interstitial Lung Disease		Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Immunodeficiency 11B with atopic dermatitis, MIM#	617638;HIES (Job syndrome);Bronchiectasis"				28628108;28826773		False	1	0;0;100	1.6	True		ENSG00000198286	ENSG00000198286	HGNC:16393													
EDN3	gene	EDN3	Expert Review Red;Victorian Clinical Genetics Services	Interstitial Lung Disease		Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Central hypoventilation syndrome, congenital, MIM# 209880				8696331		False	1	0;0;100	1.6	True		ENSG00000124205	ENSG00000124205	HGNC:3178													
FOXP1	gene	FOXP1	Expert Review Red;Victorian Clinical Genetics Services	Interstitial Lung Disease		Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypotonia, developmental delay, atrial septal defect - neuroendocrine hyperplasia of infancy (NEHI)				28884888		False	1	0;0;100	1.6	True		ENSG00000114861	ENSG00000114861	HGNC:3823													
GDNF	gene	GDNF	Expert Review Red;Victorian Clinical Genetics Services	Interstitial Lung Disease		Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Central hypoventilation syndrome, MIM# 209880						False	1	0;0;100	1.6	True		ENSG00000168621	ENSG00000168621	HGNC:4232													
HPS6	gene	HPS6	Expert Review Red;Victorian Clinical Genetics Services	Interstitial Lung Disease		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	"Hermansky-Pudlak syndrome 6, MIM#	614075"						False	1	0;0;100	1.6	True		ENSG00000166189	ENSG00000166189	HGNC:18817													
NME8	gene	NME8	Expert Review Red;Victorian Clinical Genetics Services	Interstitial Lung Disease		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 6 MIM#610852				17360648		False	1	0;0;100	1.6	True		ENSG00000086288	ENSG00000086288	HGNC:16473													
RET	gene	RET	Expert Review Red;Victorian Clinical Genetics Services	Interstitial Lung Disease		Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Central hypoventilation syndrome, congenital, MIM#209880				18438890;16443855;12566528;12086152		False	1	0;0;100	1.6	True		ENSG00000165731	ENSG00000165731	HGNC:9967													
ZNF341	gene	ZNF341	Expert list;Expert Review Red	Interstitial Lung Disease		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282;Bronchiectasis				29907691;29907690		False	1	0;0;100	1.6	True		ENSG00000131061	ENSG00000131061	HGNC:15992													
FOXF1 upstream regulatory region	region		Literature;Literature	Interstitial Lung Disease		Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380				PMID: 27822317, 27071622, 23034409, 24842713		False	1	100;0;0	1.6	False					16			86212067	86287054						70	cnv_loss	FOXF1 upstream regulatory region