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 ABCA1 gene ABCA1 Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Tangier disease MIM#205400 Stroke;HP:0001297 30356112;22913675;30278532;31487778 False 3 100;0;0 1.16 True ENSG00000165029 ENSG00000165029 HGNC:29 ABCC6 gene ABCC6 Expert Review Green;Royal Melbourne Hospital Stroke Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pseudoxanthoma elasticum, MIM# 264800;Pseudoxanthoma elasticum, forme fruste, MIM# 177850 Stroke;HP:0001297 False 3 100;0;0 1.16 True ENSG00000091262 ENSG00000091262 HGNC:57 ACAD9 gene ACAD9 Expert Review Green;Royal Melbourne Hospital Stroke Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126 Stroke;HP:0001297 17564966 False 3 100;0;0 1.16 True ENSG00000177646 ENSG00000177646 HGNC:21497 ACTA2 gene ACTA2 Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multisystemic smooth muscle dysfunction syndrome MIM#613834 Stroke;HP:0001297 20734336;19409525;30356112 False 3 100;0;0 1.16 True ENSG00000107796 ENSG00000107796 HGNC:130 ACVRL1 gene ACVRL1 Expert Review Green;Royal Melbourne Hospital Stroke Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376 Stroke;HP:0001297 False 3 100;0;0 1.16 True ENSG00000139567 ENSG00000139567 HGNC:175 ADA2 gene ADA2 Expert Review Green;Royal Melbourne Hospital Stroke Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM# 615688 Stroke;HP:0001297 32892503 False 3 100;0;0 1.16 True ENSG00000093072 ENSG00000093072 HGNC:1839 ADAMTS13 gene ADAMTS13 Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thrombotic thrombocytopenic purpura, hereditary MIM#274150 Stroke;HP:0001297 32103696;31585956;30930238;28591212 False 3 100;0;0 1.16 True ENSG00000160323 ENSG00000160323 HGNC:1366 APP gene APP Expert Review Green;Royal Melbourne Hospital Stroke Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, MIM# 605714;Cerebral amyloid angiopathy, APP-related Stroke;HP:0001297 16178030;11409420;16612981 False 3 100;0;0 1.16 True ENSG00000142192 ENSG00000142192 HGNC:620 ASS1 gene ASS1 Expert Review Green;Royal Melbourne Hospital Stroke Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Citrullinemia, MIM# 215700 Stroke;HP:0001297 False 3 100;0;0 1.16 True ENSG00000130707 ENSG00000130707 HGNC:758 CBS gene CBS Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria, B6-responsive and nonresponsive types MIM#236200;Thrombosis, hyperhomocysteinemic MIM#236200 Stroke;HP:0001297 30356112;20142522;12552044 False 3 100;0;0 1.16 True ENSG00000160200 ENSG00000160200 HGNC:1550 CCM2 gene CCM2 Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral cavernous malformations-2 MIM#603284 Stroke;HP:0001297 14624391;18779516;30356112 False 3 100;0;0 1.16 True ENSG00000136280 ENSG00000136280 HGNC:21708 CD59 gene CD59 Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy MIM#612300 Stroke;HP:0001297 30356112;28622911;1699124;25716358 False 3 100;0;0 1.16 True ENSG00000085063 ENSG00000085063 HGNC:1689 COL3A1 gene COL3A1 Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome, vascular type MIM#130050 Stroke;HP:0001297 30356112;12786757;31903434;25355833 False 3 100;0;0 1.16 True ENSG00000168542 ENSG00000168542 HGNC:2201 COL4A1 gene COL4A1 Expert Review Green;Royal Melbourne Hospital Stroke Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain small vessel disease with or without ocular anomalies MIM#175780;Brain Small Vessel Disease with Hemorrhage Stroke;HP:0001297 False 3 100;0;0 1.16 True ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A2 gene COL4A2 Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stroke;HP:0001297 22209247;30356112;27794444 False 3 100;0;0 1.16 True ENSG00000134871 ENSG00000134871 HGNC:2203 COLGALT1 gene COLGALT1 Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brain small vessel disease 3 MIM#618360 Stroke;HP:0001297 30412317;33709034;31759980 False 3 100;0;0 1.16 True ENSG00000130309 ENSG00000130309 HGNC:26182 CTSA gene CTSA Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cathepsin A-related Arteriopathy With Strokes and Leukoencephalopathy (CARASAL) Stroke;HP:0001297 27664989;31177426;23175731;32842921;31177426 False 3 67;33;0 1.16 True ENSG00000064601 ENSG00000064601 HGNC:9251 ENG gene ENG Expert Review Green;Royal Melbourne Hospital Stroke Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 1 187300 Stroke;HP:0001297 False 3 100;0;0 1.16 True ENSG00000106991 ENSG00000106991 HGNC:3349 FOXC1 gene FOXC1 Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stroke;cerebral small-vessel disease Stroke;HP:0001297 29751260;31719132;25250569 False 3 100;0;0 1.16 True ENSG00000054598 ENSG00000054598 HGNC:3800 GLA gene GLA Expert Review Green;Royal Melbourne Hospital Stroke Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Fabry disease, MIM# 301500, MONDO:0010526 Stroke;HP:0001297 False 3 100;0;0 1.16 True ENSG00000102393 ENSG00000102393 HGNC:4296 GUCY1A3 gene GUCY1A3 Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Moyamoya 6 with achalasia MIM#615750 Stroke;HP:0001297 24581742;26777256 False 3 100;0;0 1.16 True ENSG00000164116 ENSG00000164116 HGNC:4685 HBB gene HBB Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sickle cell anemia MIM#603903 Stroke;HP:0001297 30356112;19589461;7782612;20301551 False 3 100;0;0 1.16 True ENSG00000244734 ENSG00000244734 HGNC:4827 HTRA1 gene HTRA1 Expert Review Green;Royal Melbourne Hospital Stroke Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal CARASIL syndrome, MIM# 600142;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, MIM# 616779 Stroke;HP:0001297 19387015;26063658 False 3 100;0;0 1.16 True ENSG00000166033 ENSG00000166033 HGNC:9476 JAM3 gene JAM3 Expert Review;Expert Review Green Stroke Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730 Stroke;HP:0001297 23255084;21109224 False 3 100;0;0 1.16 True ENSG00000166086 ENSG00000166086 HGNC:15532 KRIT1 gene KRIT1 Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cavernous malformations of CNS and retina MIM#116860;Cerebral cavernous malformations-1 MIM#116860;Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860" Stroke;HP:0001297 30356112;14755725;11310633;9811928 False 3 100;0;0 1.16 True ENSG00000001631 ENSG00000001631 HGNC:1573 MMACHC gene MMACHC Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Methylmalonic aciduria and homocystinuria, cblC type MIM#277400" Stroke;HP:0001297 12552044;11742888;30356112 False 3 100;0;0 1.16 True ENSG00000132763 ENSG00000132763 HGNC:24525 MUT gene MUT Expert Review Green;Royal Melbourne Hospital Stroke Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MIM# 251000 Stroke;HP:0001297 False 3 100;0;0 1.16 True ENSG00000146085 ENSG00000146085 HGNC:7526 NF1 gene NF1 Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis, type 1 MIM#162200 Stroke;HP:0001297 31080139;30356112;8157015;31279841 False 3 100;0;0 1.16 True ENSG00000196712 ENSG00000196712 HGNC:7765 NIT1 gene NIT1 Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebrovascular disorder, NIT1-related (MONDO:0011057) Stroke;HP:0001297 38430071 False 3 100;0;0 1.16 True ENSG00000158793 ENSG00000158793 HGNC:7828 NOTCH3 gene NOTCH3 Expert Review Green;Royal Melbourne Hospital Stroke Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Stroke;HP:0001297 31960911 False 3 100;0;0 1.16 True ENSG00000074181 ENSG00000074181 HGNC:7883 OTC gene OTC Expert Review Green;Royal Melbourne Hospital Stroke 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) Ornithine carbamoyltransferase deficiency, MIM# 311250 Stroke;HP:0001297 32008222;24850570;23640148 False 3 100;0;0 1.16 True ENSG00000036473 ENSG00000036473 HGNC:8512 PCCA gene PCCA Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Propionicacidemia 606054" Stroke;HP:0001297 21986446;18986243;20142522 False 3 100;0;0 1.16 True ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Propionicacidemia, MIM# 606054" Stroke;HP:0001297 30356112;7769171;6497733;30037889;18986243 False 3 100;0;0 1.16 True ENSG00000114054 ENSG00000114054 HGNC:8654 PDCD10 gene PDCD10 Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral cavernous malformations 3 MIM#603285 Stroke;HP:0001297 30356112;15543491 False 3 100;0;0 1.16 True ENSG00000114209 ENSG00000114209 HGNC:8761 PDE3A gene PDE3A Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertension and brachydactyly syndrome MIM#112410 Stroke;HP:0001297 31589936;25961942;30356112 False 3 100;0;0 1.16 True ENSG00000172572 ENSG00000172572 HGNC:8778 PDGFRB gene PDGFRB Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted aneurysm;scoliosis;atrophic skin;stroke;infantile myofibromatosis Stroke;HP:0001297 PMID: 33683022;32291752 False 3 100;0;0 1.16 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000113721 ENSG00000113721 HGNC:8804 POLG gene POLG Expert Review Green;Royal Melbourne Hospital Stroke Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal POLG-related MELAS Stroke;HP:0001297 31425757;27838477 False 3 100;0;0 1.16 True ENSG00000140521 ENSG00000140521 HGNC:9179 PROC gene PROC Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Thrombophilia due to protein C deficiency Stroke;HP:0001297 1511989;20187890;30356112;32351850 False 3 100;0;0 1.16 True ENSG00000115718 ENSG00000115718 HGNC:9451 PROS1 gene PROS1 Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Thrombophilia due to protein S deficiency Stroke;HP:0001297 20484936;25997409;21172841;19729839 False 3 100;0;0 1.16 True ENSG00000184500 ENSG00000184500 HGNC:9456 RNF213 gene RNF213 Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Moyamoya disease, MONDO:0016820;pediatric arterial ischemic stroke, MONDO:0018585 Stroke;HP:0001297 37924258 False 3 100;0;0 1.16 True ENSG00000173821 ENSG00000173821 HGNC:14539 SAMHD1 gene SAMHD1 Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5 MIM#612952 Stroke;HP:0001297 20842748;21402907;27051737;25672750;28289923 False 3 100;0;0 1.16 True ENSG00000101347 ENSG00000101347 HGNC:15925 SCN5A gene SCN5A Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation, familial, 10 MIM#614022 Stroke;HP:0001297 30356112;29579189;28294644;16684018 False 3 100;0;0 1.16 True ENSG00000183873 ENSG00000183873 HGNC:10593 SERPINC1 gene SERPINC1 Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Thrombophilia due to antithrombin III deficiency MIM#613118 Stroke;HP:0001297 31359133;30356112;23910795 False 3 100;0;0 1.16 True ENSG00000117601 ENSG00000117601 HGNC:775 SLC2A10 gene SLC2A10 Expert Review Green;Royal Melbourne Hospital Stroke Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Arterial tortuosity syndrome 208050;Moyamoya disease Stroke;HP:0001297 False 3 100;0;0 1.16 True ENSG00000197496 ENSG00000197496 HGNC:13444 SMAD4 gene SMAD4 Expert Review Green;Royal Melbourne Hospital Stroke Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050 Stroke;HP:0001297 False 3 100;0;0 1.16 True ENSG00000141646 ENSG00000141646 HGNC:6770 SMARCAL1 gene SMARCAL1 Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Schimke immunoosseous dysplasia MIM#242900 Stroke;HP:0001297 16840568;9674900;30356112;30026777;20301550 False 3 100;0;0 1.16 True ENSG00000138375 ENSG00000138375 HGNC:11102 STIM1 gene STIM1 Expert Review Green;Royal Melbourne Hospital Stroke Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stormorken syndrome, MIM# 185070 Stroke;HP:0001297 False 3 100;0;0 1.16 True ENSG00000167323 ENSG00000167323 HGNC:11386 TREX1 gene TREX1 Expert Review Green;Royal Melbourne Hospital Stroke Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, MIM# 192315 Stroke;HP:0001297 False 3 100;0;0 1.16 True ENSG00000213689 ENSG00000213689 HGNC:12269 TTR gene TTR Expert Review Green;Royal Melbourne Hospital Stroke Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, hereditary, transthyretin-related, MIM# 105210 Stroke;HP:0001297 32789836;12771253 False 3 100;0;0 1.16 True ENSG00000118271 ENSG00000118271 HGNC:12405 YY1AP1 gene YY1AP1 Expert Review Green;Literature Stroke Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Grange syndrome MIM#602531 Stroke;HP:0001297 31633303;30356112;31270375;22987684;16691574;27939641;30556293 False 3 100;0;0 1.16 True ENSG00000163374 ENSG00000163374 HGNC:30935 ANO1 gene ANO1 Expert Review Amber;Literature Stroke Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Moyamoya disease 7, MIM# 620687 Stroke;HP:0001297 PMID: 37253099 False 2 0;100;0 1.16 True ENSG00000131620 ENSG00000131620 HGNC:21625 CST3 gene CST3 Expert Review Amber;Royal Melbourne Hospital Stroke Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral amyloid angiopathy, MIM# 105150 Stroke;HP:0001297 3495457 False 2 0;100;0 1.16 True ENSG00000101439 ENSG00000101439 HGNC:2475 FLNA gene FLNA Expert Review Amber;Royal Melbourne Hospital Stroke Neurology and neurodevelopmental disorders Other Heterotopia, periventricular, 1 , MIM#300049;Melnick-Needles syndrome 30, MIM#9350 Stroke;HP:0001297 21031081 False 2 0;100;0 1.16 True ENSG00000196924 ENSG00000196924 HGNC:3754