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
ADA2	gene	ADA2	Expert Review Amber;Genomics England PanelApp	Cerebral vascular malformations		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Sneddon syndrome  182410;Polyarteritis nodosa				3471198, 25528372		False	2	0;100;0	1.0	False		ENSG00000093072	ENSG00000093072	HGNC:1839													
ANO1	gene	ANO1	Expert Review Amber;Literature	Cerebral vascular malformations		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Moyamoya disease 7, MIM# 620687				PMID: 37253099		False	2	33;67;0	1.0	True		ENSG00000131620	ENSG00000131620	HGNC:21625													
CHD4	gene	CHD4	Expert Review Amber;Literature	Cerebral vascular malformations		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Moya Moya;Sifrim-Hitz-Weiss syndrome, MIM#	617159"				31474762		False	2	0;0;100	1.0	True		ENSG00000111642	ENSG00000111642	HGNC:1919													
CNOT3	gene	CNOT3	Expert Review Amber;Literature	Cerebral vascular malformations		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Moya Moya;Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM#	618672"				31474762		False	2	0;100;0	1.0	True		ENSG00000088038	ENSG00000088038	HGNC:7879													
HBB	gene	HBB	Expert Review Amber;Genomics England PanelApp	Cerebral vascular malformations		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Sickle cell anemia  603903				20301551		False	2	0;0;100	1.0	False		ENSG00000244734	ENSG00000244734	HGNC:4827													
PKD2	gene	PKD2	Expert Review Amber;Genomics England PanelApp	Cerebral vascular malformations		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Polycystic kidney disease 2  613095						False	2	0;100;0	1.0	False		ENSG00000118762	ENSG00000118762	HGNC:9009													
SETD5	gene	SETD5	Expert Review Amber;Literature	Cerebral vascular malformations		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Moya Moya;Mental retardation, autosomal dominant 23, MIM#	615761"				31474762		False	2	0;0;100	1.0	True		ENSG00000168137	ENSG00000168137	HGNC:25566													
SMAD9	gene	SMAD9	Expert Review Amber;Genomics England PanelApp	Cerebral vascular malformations		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown							False	2	0;100;0	1.0	False		ENSG00000120693	ENSG00000120693	HGNC:6774													
THSD1	gene	THSD1	Expert Review Amber;Genomics England PanelApp	Cerebral vascular malformations		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	subarachnoid hemorrhage				27895300		False	2	0;100;0	1.0	False		ENSG00000136114	ENSG00000136114	HGNC:17754