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;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Multisystemic smooth muscle dysfunction syndrome,613834;Aortic aneurysm familial thoracic 6,611788;Moyamoya Disease;Moyamoya disease 5;Moyamoya disease 5,614042 False 3 0;100;0 1.0 False ENSG00000107796 ENSG00000107796 HGNC:130 ACVRL1 gene ACVRL1 Expert Review Green;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 2 600376 False 3 100;0;0 1.0 False ENSG00000139567 ENSG00000139567 HGNC:175 ANGPTL6 gene ANGPTL6 Expert Review Green;Literature Cerebral vascular malformations Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral aneurysm 29304371;33106390 False 3 100;0;0 1.0 True ENSG00000130812 ENSG00000130812 HGNC:23140 CBL gene CBL Expert Review Green;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown early-onset moyamoya angiopathy;Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 25283271;28343148;28589114 False 3 100;0;0 1.0 True 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 Expert Review Green;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebral cavernous malformations 2;Cerebral Cavernous Malformation;Capillary malformation-arteriovenous malformation 608354;Cerebral Cavernous Malformations 14624391;20301470 False 3 100;0;0 1.0 False ENSG00000136280 ENSG00000136280 HGNC:21708 COL3A1 gene COL3A1 Expert Review Green;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome, type IV 130050 False 3 100;0;0 1.0 False ENSG00000168542 ENSG00000168542 HGNC:2201 COL4A1 gene COL4A1 Expert Review Green;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773;Brain small vessel disease with or without ocular anomalies, MIM# 175780 27794444;25719457 False 3 100;0;0 1.0 True ENSG00000187498 ENSG00000187498 HGNC:2202 ENG gene ENG Expert Review Green;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Telangiectasia, hereditary hemorrhagic, type 1 187300 15024723;20301525 False 3 100;0;0 1.0 False ENSG00000106991 ENSG00000106991 HGNC:3349 EPHB4 gene EPHB4 Expert Review Green;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Capillary malformation-arteriovenous malformation 2, 618196 False 3 100;0;0 1.0 False ENSG00000196411 ENSG00000196411 HGNC:3395 FLVCR2 gene FLVCR2 Expert Review Green;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome 20206334 False 3 50;0;50 1.0 False ENSG00000119686 ENSG00000119686 HGNC:20105 GUCY1A3 gene GUCY1A3 Expert Review Green;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Moyamoya 6 with achalasia;Moyamoya 6 with achalasia, 615750 24581742;26777256 False 3 100;0;0 1.0 False ENSG00000164116 ENSG00000164116 HGNC:4685 KRIT1 gene KRIT1 Expert Review Green;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cavernous malformations of CNS and retina, 116860;Cerebral cavernous malformations-1, 116860;Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 10508515;20301470 False 3 100;0;0 1.0 True ENSG00000001631 ENSG00000001631 HGNC:1573 NF1 gene NF1 Expert Review Green;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Moyamoya disease;Neurofibromatosis, type 1 162200 10754001 False 3 50;0;50 1.0 True ENSG00000196712 ENSG00000196712 HGNC:7765 PCNT gene PCNT Expert Review Green;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type II 210720;Moyamoya disease 15368497;34978779;19839044;37234811;34923567 False 3 0;100;0 1.0 True ENSG00000160299 ENSG00000160299 HGNC:16068 PDCD10 gene PDCD10 Expert Review Green;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebral Cavernous Malformations;Cerebral cavernous malformations 3;Cerebral cavernous malformations 3, 603285;Cerebral Cavernous Malformation;Familial Cerebral Cavernous Malformation 15543491;20301470 False 3 100;0;0 1.0 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 PDGFRB gene PDGFRB Expert Review Green;Literature Cerebral vascular malformations Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted aneurysm;scoliosis;atrophic skin;stroke;infantile myofibromatosis False 3 100;0;0 1.0 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 PIK3CA gene PIK3CA Expert Review Green;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral cavernous malformations 4, MIM#619538 34496175 False 3 100;0;0 1.0 True ENSG00000121879 ENSG00000121879 HGNC:8975 PKD1 gene PKD1 Expert Review Green;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Polycystic kidney disease, adult type I 173900 False 3 100;0;0 1.0 False ENSG00000008710 ENSG00000008710 HGNC:9008 RASA1 gene RASA1 Expert Review Green;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parkes Weber syndrome;Capillary malformation-arteriovenous malformation, 608354;Parkes Weber Syndrome;Parkes Weber syndrome (PKWS);Parkes Weber syndrome, 608355;Capillary Malformation-Arteriovenous Malformation Syndrome 14639529 False 3 100;0;0 1.0 False ENSG00000145715 ENSG00000145715 HGNC:9871 RNF213 gene RNF213 Expert Review Green;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted susceptibility to Moyamoya disease 2, (MIM# 607151) 21048783;28635953 False 3 100;0;0 1.0 True ENSG00000173821 ENSG00000173821 HGNC:14539 SAMHD1 gene SAMHD1 Expert Review Green;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Moyamoya disease 20653736;21402907 False 3 0;0;0 1.0 False ENSG00000101347 ENSG00000101347 HGNC:15925 SLC2A10 gene SLC2A10 Expert Review Green;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 208050;Moyamoya disease;Arterial tortuosity syndrome 16550171 False 3 100;0;0 1.0 False ENSG00000197496 ENSG00000197496 HGNC:13444 SMAD4 gene SMAD4 Expert Review Green;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050 False 3 100;0;0 1.0 False ENSG00000141646 ENSG00000141646 HGNC:6770 YY1AP1 gene YY1AP1 Expert Review Green;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Grange syndrome, 602531 False 3 100;0;0 1.0 False ENSG00000163374 ENSG00000163374 HGNC:30935 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 ABCC6 gene ABCC6 Expert Review Red;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders Unknown Moyamoya disease False 1 0;0;100 1.0 True ENSG00000091262 ENSG00000091262 HGNC:57 ACE gene ACE Expert Review Red;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders {Stroke, hemorrhagic} False 1 0;0;100 1.0 False ENSG00000159640 ENSG00000159640 HGNC:2707 ADGRG1 gene ADGRG1 Expert Review Red;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders bilateral frontoparietal polymicrogyria MONDO:0011738 False 1 0;0;100 1.0 True ENSG00000205336 ENSG00000205336 HGNC:4512 ANTXR1 gene ANTXR1 Expert Review Red;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal GAPO syndrome MONDO:0009263 24664815 False 1 0;0;100 1.0 True ENSG00000169604 ENSG00000169604 HGNC:21014 ARX gene ARX Expert Review Red;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders Cerebral Malformation Disorders False 1 0;0;100 1.0 True ENSG00000004848 ENSG00000004848 HGNC:18060 ATR gene ATR Expert Review Red;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 1 210600 12640452 False 1 0;0;100 1.0 False ENSG00000175054 ENSG00000175054 HGNC:882 BRCC3 gene BRCC3 Expert Review Red;Genomics England PanelApp Cerebral vascular malformations 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) Moyamoya disease 21596366;33868155 False 1 0;0;100 1.0 True ENSG00000185515 ENSG00000185515 HGNC:24185 CENPJ gene CENPJ Expert Review Red;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 4 613676 False 1 0;0;100 1.0 False ENSG00000151849 ENSG00000151849 HGNC:17272 CEP152 gene CEP152 Expert Review Red;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 5 613823 21131973 False 1 0;0;100 1.0 True ENSG00000103995 ENSG00000103995 HGNC:29298 CEP63 gene CEP63 Expert Review Red;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 6 614728 21983783 False 1 0;0;100 1.0 True ENSG00000182923 ENSG00000182923 HGNC:25815 COL4A2 gene COL4A2 Expert Review Red;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stroke, hemorrhagic MIM#614519 22209247 False 1 0;0;100 1.0 True ENSG00000134871 ENSG00000134871 HGNC:2203 CRB1 gene CRB1 Expert Review Red;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pigmented paravenous chorioretinal atrophy MIM#172870 False 1 0;0;100 1.0 True ENSG00000134376 ENSG00000134376 HGNC:2343 CTSA gene CTSA Expert Review Red;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal galactosialidosis MONDO:0009737 False 1 0;0;100 1.0 True ENSG00000064601 ENSG00000064601 HGNC:9251 DCX gene DCX Expert Review Red;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders lissencephaly spectrum disorders MONDO:0018838 False 1 0;0;100 1.0 True ENSG00000077279 ENSG00000077279 HGNC:2714 GDF2 gene GDF2 Expert Review Red;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 5, MIM# 615506 23972370 False 1 0;0;100 1.0 True ENSG00000128802 ENSG00000263761 HGNC:4217 MRVI1 gene MRVI1 Expert Review Red;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders Unknown False 1 0;0;100 1.0 True ENSG00000072952 ENSG00000072952 HGNC:7237 MYH11 gene MYH11 Expert Review Red;Genomics England PanelApp Cerebral vascular malformations Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aortic aneurysm, familial thoracic 4, 132900;moyamoya-like angiopath 16444274;32081817;29263223;27367753 False 1 0;0;100 1.0 True ENSG00000133392 ENSG00000133392 HGNC:7569