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 list;Expert Review Green;Literature	Familial cerebral small vessel disease	Arteriopathies	Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	"Pseudoxanthoma elasticum	264800	AR;Pseudoxanthoma elasticum, forme fruste	177850	AD"				15825558;17964712;697322		False	3	100;0;0	1.18	True		ENSG00000091262	ENSG00000091262	HGNC:57													
APP	gene	APP	Expert list;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Familial cerebral small vessel disease	Arteriopathies	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, OMIM:605714;Haemorrhagic stroke;Ischaemic stroke;Leukoencephalopathy;Seizures				8737926;1303239;10821838;20228223		False	3	100;0;0	1.18	True		ENSG00000142192	ENSG00000142192	HGNC:620													
ATP1A2	gene	ATP1A2	Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Familial cerebral small vessel disease	Arteriopathies	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Cerebral small vessel disease;coma;encephalopathy;Migraine, familial basilar	602481;Migraine, familial hemiplegic, 2	602481"				25948653;25411546;19838529		False	3	0;0;100	1.18	True		ENSG00000018625	ENSG00000018625	HGNC:800													
CACNA1A	gene	CACNA1A	Expert list;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Familial cerebral small vessel disease	Arteriopathies	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Migraine, familial hemiplegic, 1, OMIM:141500;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500				20682717;12756131;27250579		False	3	0;0;100	1.18	True		ENSG00000141837	ENSG00000141837	HGNC:1388													
COL3A1	gene	COL3A1	Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Familial cerebral small vessel disease	Arteriopathies	Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	"stroke;ischemic stroke;haemorrhagic stroke;dissection;vertebral artery dissection;Ehlers-Danlos syndrome, type IV	130050"				8526472		False	3	100;0;0	1.18	True		ENSG00000168542	ENSG00000168542	HGNC:2201													
COL4A1	gene	COL4A1	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Familial cerebral small vessel disease	Arteriopathies	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Cerebral Small Vessel Disease;stroke;migraine;Axenfeld-Rieger Anomaly;cognitive impairment;dementia;seizures;myopathy;infantile hemiparesis;developmental delay;Porencephaly 1 175780;{Hemorrhage, intracerebral, susceptibility to}	614519"				21157337;17696175;16107487;19949034;1737982;17938367		False	3	100;0;0	1.18	True		ENSG00000187498	ENSG00000187498	HGNC:2202													
COL4A2	gene	COL4A2	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Familial cerebral small vessel disease	Arteriopathies	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"porencephaly;infantile heiparesis, intracerebral haemorrhages;Porencephaly 2	614483;{Hemorrhage, intracerebral, susceptibility to}	614519"				22333902;22209246;22209247		False	3	100;0;0	1.18	True		ENSG00000134871	ENSG00000134871	HGNC:2203													
COLGALT1	gene	COLGALT1	Expert Review Green;Literature	Familial cerebral small vessel disease	Arteriopathies	Cardiovascular disorders	BIALLELIC, autosomal or pseudoautosomal	Brain small vessel disease 3, OMIM:618360				30412317;33709034;31759980		False	3	100;0;0	1.18	False		ENSG00000130309	ENSG00000130309	HGNC:26182													
FOXC1	gene	FOXC1	Emory Genetics Laboratory;Expert list;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Familial cerebral small vessel disease	Arteriopathies	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Stroke;Dandy Walker Syndrome;Hearing Impairment;Axenfeld-Rieger syndrome, type 3, Rieger or Axenfeld anomalies	602482;Iridogoniodysgenesis, type 1, Iris hypoplasia and glaucoma	601631"				22678982;22903608;25250569;16551997;23686687;32720677		False	3	100;0;0	1.18	True		ENSG00000054598	ENSG00000054598	HGNC:3800													
GLA	gene	GLA	Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Familial cerebral small vessel disease	Arteriopathies	Cardiovascular disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Cerebral Small Vessel Disease;Stroke;Ischemic Stroke;haemorrhagic stroke;Fabry disease, Fabry disease, cardiac variant 301500				22037950;17206462;15025684		False	3	100;0;0	1.18	True		ENSG00000102393	ENSG00000102393	HGNC:4296													
HTRA1	gene	HTRA1	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Familial cerebral small vessel disease	Arteriopathies	Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	"Cerebral small vessel disease;strokes, dementia;cognitive impairment;psychiatric disturbance;alopecia;degenerative disc disease;CARASIL syndrome	600142	AR;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	616779"				21215656;19299137;11889251;26138950;21115960;26063658		False	3	100;0;0	1.18	True		ENSG00000166033	ENSG00000166033	HGNC:9476													
NOTCH3	gene	NOTCH3	Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other;UKGTN	Familial cerebral small vessel disease	Arteriopathies	Cardiovascular disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310				12754354;8878478;19528524;http://www.cambridgestroke.com/genetictesting.php		False	3	100;0;0	1.18	True		ENSG00000074181	ENSG00000074181	HGNC:7883													
TREX1	gene	TREX1	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Familial cerebral small vessel disease	Arteriopathies	Cardiovascular disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	"retinal vasculopathy with cerebral leukodystrophy;cerebroretinal vasculopathy;hereditary endotheliopathy, retinopathy, nephropathy and stroke;stroke, hereditary vascular retinopathy;retinopathy;nephropathy;Aicardi-Goutieres syndrome 1, dominant and recessive	225750	AR, AD;Vasculopathy, retinal, with cerebral leukodystrophy	192315 AD"				18204807;12525718;17660820;23881107;16845398		False	3	100;0;0	1.18	True		ENSG00000213689	ENSG00000213689	HGNC:12269