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
ARAP3	gene	ARAP3	Expert Review Amber;Literature	Vascular Malformations SuperPanel		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lymphoedema, MONDO:0019297, ARAP3-related			Abnormal vascular morphology HP:0025015	32908855		False	2	0;100;0	1.64	True		ENSG00000120318	ENSG00000120318	HGNC:24097													
CARD14	gene	CARD14	Expert Review Amber;Genomics England PanelApp;NHS GMS	Vascular Malformations SuperPanel		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Inflammatory linear verrucous epidermal naevus			Abnormal vascular morphology HP:0025015	34116062		False	2	0;50;50	1.64	True	Other	ENSG00000141527	ENSG00000141527	HGNC:16446													
CCM2	gene	CCM2	Expert Review Amber;Royal Melbourne Hospital	Vascular Malformations SuperPanel		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cerebral cavernous malformations-2, MIM# 603284			Abnormal vascular morphology HP:0025015	21543988;14624391		False	2	0;100;0	1.64	True		ENSG00000136280	ENSG00000136280	HGNC:21708													
CDKN1C	gene	CDKN1C	Expert Review Amber;Expert list	Vascular Malformations SuperPanel		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Beckwith-Wiedemann syndrome 130650			Abnormal vascular morphology HP:0025015			False	2	0;50;50	1.64	True		ENSG00000129757	ENSG00000129757	HGNC:1786													
EPHB4	gene	EPHB4	Expert Review Amber;Other	Vascular Malformations SuperPanel		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Capillary malformation-arteriovenous malformation			Abnormal vascular morphology HP:0025015	31300548;30760892		False	2	0;100;0	1.64	True		ENSG00000196411	ENSG00000196411	HGNC:3395													
GPAA1	gene	GPAA1	Expert Review Amber;Literature	Vascular Malformations SuperPanel		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Vascular anomalies			Abnormal vascular morphology HP:0025015	32533362		False	2	0;100;0	1.64	True		ENSG00000197858	ENSG00000197858	HGNC:4446													
GPRASP1	gene	GPRASP1	Expert Review Amber;Literature	Vascular Malformations SuperPanel		Cardiovascular disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Arteriovenous hemangioma/malformation, GPRASP1-related, MONDO:0001256			Abnormal vascular morphology HP:0025015	37787182		False	2	0;100;0	1.64	True		ENSG00000198932	ENSG00000198932	HGNC:24834													
KDR	gene	KDR	Expert Review Amber;Expert list	Vascular Malformations SuperPanel		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	{Hemangioma, capillary infantile, susceptibility to} 602089;Hemangioma, capillary infantile, somatic 602089;Cystic hygroma			Abnormal vascular morphology HP:0025015	30475086;7596435;24704994;18931684		False	2	0;100;0	1.64	True		ENSG00000128052	ENSG00000128052	HGNC:6307													
KIF11	gene	KIF11	Expert Review Amber;Victorian Clinical Genetics Services	Vascular Malformations SuperPanel		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950;MONDO:0007918			Abnormal vascular morphology HP:0025015	22284827;25115524;25124931;27212378;32730767;31993640;25996076		False	2	0;100;0	1.64	True		ENSG00000138160	ENSG00000138160	HGNC:6388													
LRRC8C	gene	LRRC8C	Expert Review Amber;Literature	Vascular Malformations SuperPanel		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	TIMES syndrome MIM#621056			Abnormal vascular morphology HP:0025015	39623139		False	2	0;100;0	1.64	True	Other	ENSG00000171488	ENSG00000171488	HGNC:25075													
MAP2K1	gene	MAP2K1	Expert Review Amber;Genomics England PanelApp;NHS GMS	Vascular Malformations SuperPanel		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	vascular malformations			Abnormal vascular morphology HP:0025015	29461977		False	2	50;50;0	1.64	True		ENSG00000169032	ENSG00000169032	HGNC:6840													
MET	gene	MET	Expert Review Amber;Literature	Vascular Malformations SuperPanel		Cardiovascular disorders	Other	lymphovenous malformation;overgrowth			Abnormal vascular morphology HP:0025015	PMID: 32858245		False	2	0;100;0	1.64	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000105976	ENSG00000105976	HGNC:7029													
MTOR	gene	MTOR	Expert Review Amber;Expert list;Expert list	Vascular Malformations SuperPanel		Cardiovascular disorders	Other	Smith-Kingsmore syndrome 616638;Focal cortical dysplasia, type II, somatic 607341			Abnormal vascular morphology HP:0025015	29174369;28892148		False	2	0;100;0	1.64	True	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000198793	ENSG00000198793	HGNC:3942													
PDCD10	gene	PDCD10	Expert Review Amber;Royal Melbourne Hospital	Vascular Malformations SuperPanel		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cerebral cavernous malformations 3			Abnormal vascular morphology HP:0025015			False	2	0;100;0	1.64	True		ENSG00000114209	ENSG00000114209	HGNC:8761													
PMVK	gene	PMVK	Expert Review Amber;Genomics England PanelApp;NHS GMS	Vascular Malformations SuperPanel		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Linear porokeratosis;Porokeratosis 1, multiple types, MIM# 175800			Abnormal vascular morphology HP:0025015	30942823;26202976		False	2	0;100;0	1.64	True		ENSG00000163344	ENSG00000163344	HGNC:9141													
RASA1	gene	RASA1	Expert Review Amber;Genomics England PanelApp;NHS GMS	Vascular Malformations SuperPanel		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Capillary malformation-arteriovenous malformation syndrome			Abnormal vascular morphology HP:0025015	30635911;24038909		False	2	50;50;0	1.64	True		ENSG00000145715	ENSG00000145715	HGNC:9871													
RORC	gene	RORC	Expert Review Amber;Literature	Vascular Malformations SuperPanel		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lymphoedema			Abnormal vascular morphology HP:0025015	32960152		False	2	0;100;0	1.64	True		ENSG00000143365	ENSG00000143365	HGNC:10260													
SOS1	gene	SOS1	Expert Review Amber;Expert list;Expert list	Vascular Malformations SuperPanel		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Noonan syndrome 4 610733			Abnormal vascular morphology HP:0025015	29907801		False	2	0;0;100	1.64	True		ENSG00000115904	ENSG00000115904	HGNC:11187													
TEK	gene	TEK	Expert Review Amber;Genomics England PanelApp;NHS GMS	Vascular Malformations SuperPanel		Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Venous malformations, multiple cutaneous and mucosal, 600195			Abnormal vascular morphology HP:0025015	27519652		False	2	0;100;0	1.64	True		ENSG00000120156	ENSG00000120156	HGNC:11724