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
ACTA2	gene	ACTA2	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Other;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH	Cerebral vascular malformations		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Moyamoya disease 5, OMIM:614042						False	3	50;50;0	4.10	False		ENSG00000107796	ENSG00000107796	HGNC:130													
ACVRL1	gene	ACVRL1	Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH	Cerebral vascular malformations		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Telangiectasia, hereditary hemorrhagic, type 2, OMIM;600376						False	3	100;0;0	4.10	False		ENSG00000139567	ENSG00000139567	HGNC:175													
ANGPTL6	gene	ANGPTL6	Expert Review Green;Literature;NHS GMS	Cerebral vascular malformations		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	brain aneurysm MONDO:0005291				29304371;33106390;29304371		False	3	100;0;0	4.10	False		ENSG00000130812	ENSG00000130812	HGNC:23140													
ANO1	gene	ANO1	Expert Review Green;Literature;NHS GMS	Cerebral vascular malformations		Neurology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Moyamoya disease 7, OMIM:620687;moyamoya disease 7, MONDO:0958202				37253099		False	3	67;33;0	4.10	False	Other	ENSG00000131620	ENSG00000131620	HGNC:21625													
CBL	gene	CBL	Expert Review Green;Literature;NHS GMS;Research;Yorkshire and North East GLH	Cerebral vascular malformations		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	cerebral arterial disease, MONDO:0006693;Moyamoya disease, MONDO:0016820;early-onset moyamoya angiopathy;Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563				28343148;25283271;28589114;32637631;37778001		False	3	83;17;0	4.10	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000110395	ENSG00000110395	HGNC:1541													
CCM2	gene	CCM2	Emory Genetics Laboratory;Expert Review Green;NHS GMS;UKGTN;Yorkshire and North East GLH	Cerebral vascular malformations		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cerebral cavernous malformations-2, OMIM:603284				20301470;14624391;31937560		False	3	100;0;0	4.10	False		ENSG00000136280	ENSG00000136280	HGNC:21708													
COL3A1	gene	COL3A1	Expert Review Green;NHS GMS;UKGTN;Yorkshire and North East GLH	Cerebral vascular malformations		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ehlers-Danlos syndrome, vascular type, OMIM:130050						False	3	100;0;0	4.10	False		ENSG00000168542	ENSG00000168542	HGNC:2201													
COL5A1	gene	COL5A1	Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen	Cerebral vascular malformations		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ehlers-Danlos syndrome, classic type, 1, OMIM:130000;Fibromuscular dysplasia, multifocal, OMIM:619329				17053184;31903434;32938213;33189937;35911880		False	3	100;0;0	4.10	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000130635	ENSG00000130635	HGNC:2209													
ENG	gene	ENG	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Other;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH	Cerebral vascular malformations		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300				20301525;15024723		False	3	100;0;0	4.10	False		ENSG00000106991	ENSG00000106991	HGNC:3349													
GUCY1A3	gene	GUCY1A3	Expert list;Expert Review Green;NHS GMS;Other;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH	Cerebral vascular malformations		Neurology	BIALLELIC, autosomal or pseudoautosomal	Moyamoya 6 with achalasia, OMIM:615750				24581742;26777256		False	3	100;0;0	4.10	False		ENSG00000164116	ENSG00000164116	HGNC:4685													
KRIT1	gene	KRIT1	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH	Cerebral vascular malformations		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cerebral cavernous malformations-1, OMIM:116860;Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, OMIM:116860;Cavernous malformations of CNS and retina, OMIM:116860				10508515;20301470		False	3	100;0;0	4.10	False		ENSG00000001631	ENSG00000001631	HGNC:1573													
PDCD10	gene	PDCD10	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH	Cerebral vascular malformations		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cerebral cavernous malformations 3, OMIM:603285				20301470;15543491		False	3	100;0;0	4.10	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000114209	ENSG00000114209	HGNC:8761													
RASA1	gene	RASA1	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Other;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH	Cerebral vascular malformations		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Capillary malformation-arteriovenous malformation 1, OMIM:608354				14639529		False	3	100;0;0	4.10	False		ENSG00000145715	ENSG00000145715	HGNC:9871													
RNF213	gene	RNF213	Expert list;Expert Review Green;NHS GMS;Other;Yorkshire and North East GLH	Cerebral vascular malformations		Neurology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	{Moyamoya disease 2, susceptibility to}, OMIM:607151				21048783		False	3	50;50;0	4.10	False		ENSG00000173821	ENSG00000173821	HGNC:14539													
SAMHD1	gene	SAMHD1	Expert list;Expert Review Green;NHS GMS;Yorkshire and North East GLH	Cerebral vascular malformations		Neurology	BIALLELIC, autosomal or pseudoautosomal	Moyamoya disease, MONDO:0016820				21402907;20653736		False	3	50;50;0	4.10	False		ENSG00000101347	ENSG00000101347	HGNC:15925													
SLC2A10	gene	SLC2A10	Expert list;Expert Review Green;NHS GMS;Yorkshire and North East GLH	Cerebral vascular malformations		Neurology	BIALLELIC, autosomal or pseudoautosomal	Arterial tortuosity syndrome, OMIM:208050				16550171		False	3	33;67;0	4.10	False		ENSG00000197496	ENSG00000197496	HGNC:13444													
SMAD4	gene	SMAD4	Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH	Cerebral vascular malformations		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050						False	3	100;0;0	4.10	False		ENSG00000141646	ENSG00000141646	HGNC:6770													
YY1AP1	gene	YY1AP1	Expert list;Expert Review Green;NHS GMS;Yorkshire and North East GLH	Cerebral vascular malformations		Neurology	BIALLELIC, autosomal or pseudoautosomal	Grange syndrome, OMIM:602531						False	3	100;0;0	4.10	False		ENSG00000163374	ENSG00000163374	HGNC:30935