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													
BMPR2	gene	BMPR2	Expert Review Amber;NHS GMS	Hereditary haemorrhagic telangiectasia		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Pulmonary hypertension, familial primary, 1, with or without HHT, 178600				18792970		False	2	0;50;50	3.7	False		ENSG00000204217	ENSG00000204217	HGNC:1078													
ATM	gene	ATM	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Hereditary haemorrhagic telangiectasia		Respiratory	BIALLELIC, autosomal or pseudoautosomal	Ataxia-telangiectasia, OMIM:208900				6417247;2666519;2212727		False	1	0;0;100	3.7	False		ENSG00000149311	ENSG00000149311	HGNC:795													
ATR	gene	ATR	Expert Review Red;Radboud University Medical Center, Nijmegen	Hereditary haemorrhagic telangiectasia		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	?Cutaneous telangiectasia and cancer syndrome, familial, OMIM:614564				6417247;2666519;2212727		False	1	0;0;100	3.7	False		ENSG00000175054	ENSG00000175054	HGNC:882													
FOXF1	gene	FOXF1	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Hereditary haemorrhagic telangiectasia		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Alveolar capillary dysplasia with misalignment of pulmonary veins 265380				27071622;26462560;27071622		False	1	0;0;100	3.7	False		ENSG00000103241	ENSG00000103241	HGNC:3809													
KRIT1	gene	KRIT1	Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Hereditary haemorrhagic telangiectasia		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cavernous malformations of CNS and retina 116860;Cerebral cavernous malformations-1 116860;Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860						False	1	0;0;100	3.7	False		ENSG00000001631	ENSG00000001631	HGNC:1573													
MRE11	gene	MRE11	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Hereditary haemorrhagic telangiectasia		Respiratory	BIALLELIC, autosomal or pseudoautosomal	Ataxia-telangiectasia-like disorder, 604391				6417247;2666519;2212727		False	1	0;0;100	3.7	False		ENSG00000020922	ENSG00000020922	HGNC:7230													
PIK3CA	gene	PIK3CA	Expert Review Red;UKGTN	Hereditary haemorrhagic telangiectasia		Respiratory	Unknown	Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi;Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome				27030594;27030595		False	1	0;0;100	3.7	False		ENSG00000121879	ENSG00000121879	HGNC:8975													
SOX18	gene	SOX18	Expert Review Red;Radboud University Medical Center, Nijmegen	Hereditary haemorrhagic telangiectasia		Respiratory	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	"Hypotrichosis-lymphedema-telangiectasia syndrome, 607823;Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	137940"						False	1	0;0;100	3.7	False		ENSG00000203883	ENSG00000203883	HGNC:11194													
TEK	gene	TEK	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Hereditary haemorrhagic telangiectasia		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Venous malformations, multiple cutaneous and mucosal 600195				27519652		False	1	0;0;100	3.7	False		ENSG00000120156	ENSG00000120156	HGNC:11724