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
ABCC6	gene	ABCC6	Expert Review Red;Genomics England PanelApp	Cerebral vascular malformations		Neurology and neurodevelopmental disorders	Unknown	Moyamoya disease						False	1	0;0;100	1.0	True		ENSG00000091262	ENSG00000091262	HGNC:57													
ACE	gene	ACE	Expert Review Red;Genomics England PanelApp	Cerebral vascular malformations		Neurology and neurodevelopmental disorders		{Stroke, hemorrhagic}						False	1	0;0;100	1.0	False		ENSG00000159640	ENSG00000159640	HGNC:2707													
ADGRG1	gene	ADGRG1	Expert Review Red;Genomics England PanelApp	Cerebral vascular malformations		Neurology and neurodevelopmental disorders		bilateral frontoparietal polymicrogyria MONDO:0011738						False	1	0;0;100	1.0	True		ENSG00000205336	ENSG00000205336	HGNC:4512													
ANTXR1	gene	ANTXR1	Expert Review Red;Genomics England PanelApp	Cerebral vascular malformations		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	GAPO syndrome MONDO:0009263				24664815		False	1	0;0;100	1.0	True		ENSG00000169604	ENSG00000169604	HGNC:21014													
ARX	gene	ARX	Expert Review Red;Genomics England PanelApp	Cerebral vascular malformations		Neurology and neurodevelopmental disorders		Cerebral Malformation Disorders						False	1	0;0;100	1.0	True		ENSG00000004848	ENSG00000004848	HGNC:18060													
ATR	gene	ATR	Expert Review Red;Genomics England PanelApp	Cerebral vascular malformations		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome 1  210600				12640452		False	1	0;0;100	1.0	False		ENSG00000175054	ENSG00000175054	HGNC:882													
BRCC3	gene	BRCC3	Expert Review Red;Genomics England PanelApp	Cerebral vascular malformations		Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Moyamoya disease				21596366;33868155		False	1	0;0;100	1.0	True		ENSG00000185515	ENSG00000185515	HGNC:24185													
CENPJ	gene	CENPJ	Expert Review Red;Genomics England PanelApp	Cerebral vascular malformations		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome 4  613676						False	1	0;0;100	1.0	False		ENSG00000151849	ENSG00000151849	HGNC:17272													
CEP152	gene	CEP152	Expert Review Red;Genomics England PanelApp	Cerebral vascular malformations		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome 5  613823				21131973		False	1	0;0;100	1.0	True		ENSG00000103995	ENSG00000103995	HGNC:29298													
CEP63	gene	CEP63	Expert Review Red;Genomics England PanelApp	Cerebral vascular malformations		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome 6  614728				21983783		False	1	0;0;100	1.0	True		ENSG00000182923	ENSG00000182923	HGNC:25815													
COL4A2	gene	COL4A2	Expert Review Red;Genomics England PanelApp	Cerebral vascular malformations		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Stroke, hemorrhagic MIM#614519				22209247		False	1	0;0;100	1.0	True		ENSG00000134871	ENSG00000134871	HGNC:2203													
CRB1	gene	CRB1	Expert Review Red;Genomics England PanelApp	Cerebral vascular malformations		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pigmented paravenous chorioretinal atrophy MIM#172870						False	1	0;0;100	1.0	True		ENSG00000134376	ENSG00000134376	HGNC:2343													
CTSA	gene	CTSA	Expert Review Red;Genomics England PanelApp	Cerebral vascular malformations		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	galactosialidosis MONDO:0009737						False	1	0;0;100	1.0	True		ENSG00000064601	ENSG00000064601	HGNC:9251													
DCX	gene	DCX	Expert Review Red;Genomics England PanelApp	Cerebral vascular malformations		Neurology and neurodevelopmental disorders		lissencephaly spectrum disorders MONDO:0018838						False	1	0;0;100	1.0	True		ENSG00000077279	ENSG00000077279	HGNC:2714													
GDF2	gene	GDF2	Expert Review Red;Genomics England PanelApp	Cerebral vascular malformations		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Telangiectasia, hereditary hemorrhagic, type 5, MIM# 615506				23972370		False	1	0;0;100	1.0	True		ENSG00000128802	ENSG00000263761	HGNC:4217													
MRVI1	gene	MRVI1	Expert Review Red;Genomics England PanelApp	Cerebral vascular malformations		Neurology and neurodevelopmental disorders	Unknown							False	1	0;0;100	1.0	True		ENSG00000072952	ENSG00000072952	HGNC:7237													
MYH11	gene	MYH11	Expert Review Red;Genomics England PanelApp	Cerebral vascular malformations		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Aortic aneurysm, familial thoracic 4, 132900;moyamoya-like angiopath				16444274;32081817;29263223;27367753		False	1	0;0;100	1.0	True		ENSG00000133392	ENSG00000133392	HGNC:7569