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
ACVRL1	gene	ACVRL1	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Hereditary haemorrhagic telangiectasia		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Telangiectasia, hereditary hemorrhagic, type 2 600376;epistaxis;telangiectasia;hepatic arteriovenous malformation;pulmonary arteriovenous malformation;cerebral pulmonary arteriovenous malformation;pulmonary arterial hypertension				8640225;16155196;14684682		False	3	100;0;0	3.7	False		ENSG00000139567	ENSG00000139567	HGNC:175													
ENG	gene	ENG	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Hereditary haemorrhagic telangiectasia		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Telangiectasia, hereditary hemorrhagic, type 1, 187300;Epistaxis (HP:0000421);Nasal mucosa telangiectasia (HP:0000434);Lip telangiectasia (HP:0000214);Tongue telangiectasia (HP:0000227);Palate telangiectasia (HP:0002707);Finger pad telangiectasia (pulp not nail side);Gastrointestinal telangiectasia (HP:0002604);Arteriovenous malformation (HP:0100026);Cerebral arteriovenous malformation (HP:0002408);Pulmonary arteriovenous malformation (HP:0006548);Hepatic arteriovenous malformation (HP:0006574;);Spinal arteriovenous malformation (HP:0002390)				7894484;16155196;14684682;22192717;21967607;28989145		False	3	100;0;0	3.7	False		ENSG00000106991	ENSG00000106991	HGNC:3349													
EPHB4	gene	EPHB4	Expert Review Green;Other	Hereditary haemorrhagic telangiectasia		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Capillary malformation-arteriovenous malformation 2, OMIM:618196;Capillary malformation, epistaxis, telangiectasia, cerebral AVM				28687708;28730721;30760892		False	3	67;33;0	3.7	False		ENSG00000196411	ENSG00000196411	HGNC:3395													
GDF2	gene	GDF2	Emory Genetics Laboratory;Expert Review;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Hereditary haemorrhagic telangiectasia		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Telangiectasia, hereditary hemorrhagic, type 5 OMIM:615506;telangiectasia, hereditary hemorrhagic, type 5 MONDO:0014217				34904380;23972370;27081547;25674101;32573726;32669404;33834622;https://doi.org/10.1164/ajrccm-conference.2020.201.1_MeetingAbstracts.A6356		False	3	0;75;25	3.7	False		ENSG00000128802	ENSG00000263761	HGNC:4217													
RASA1	gene	RASA1	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Hereditary haemorrhagic telangiectasia		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Capillary malformation-arteriovenous malformation	608354"				18446851;27081547;29891884;32900839		False	3	67;0;33	3.7	True		ENSG00000145715	ENSG00000145715	HGNC:9871													
SMAD4	gene	SMAD4	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN	Hereditary haemorrhagic telangiectasia		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050				15031030		False	3	100;0;0	3.7	False		ENSG00000141646	ENSG00000141646	HGNC:6770