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 1.17 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 1.17 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 1.17 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 1.17 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 1.17 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 1.17 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 1.17 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 1.17 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 1.17 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 1.17 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 1.17 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 1.17 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 1.17 True ENSG00000213689 ENSG00000213689 HGNC:12269