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 ADA2 gene ADA2 Expert Review Amber;Literature;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Cerebral vascular malformations Neurology BIALLELIC, autosomal or pseudoautosomal ?Sneddon syndrome, OMIM:182410;Polyarteritis nodosa, MONDO:0019170 3471198;25528372;33791889;36528591 False 2 0;100;0 4.10 False ENSG00000093072 ENSG00000093072 HGNC:1839 ATR gene ATR Expert Review Amber;Literature;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Cerebral vascular malformations Neurology BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 1, OMIM:210600 12640452 False 2 0;100;0 4.10 False ENSG00000175054 ENSG00000175054 HGNC:882 CCER2 gene CCER2 Expert Review Amber;Literature Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Moyamoya Disease, MONDO:0016820 27717682 False 2 0;100;0 4.10 False Other ENSG00000262484 ENSG00000262484 HGNC:44662 CEP152 gene CEP152 Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 5, OMIM:613823 21131973 False 2 0;100;0 4.10 False ENSG00000103995 ENSG00000103995 HGNC:29298 CHD4 gene CHD4 Expert Review Amber;Literature Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Moyamoya disease MONDO:0016820;Sifrim-Hitz-Weiss syndrome OMIM:617159;Sifrim-Hitz-Weiss syndrome MONDO:0014946 31474762;27616479;27479907;28991257 False 2 0;67;33 4.10 False ENSG00000111642 ENSG00000111642 HGNC:1919 CNOT3 gene CNOT3 Expert Review Amber;Literature Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Moyamoya disease MONDO:0016820;Intellectual developmental disorder with speech delay, autism, and dysmorphic facies OMIM:618672;intellectual developmental disorder with speech delay, autism, and dysmorphic facies MONDO:0032864 31474762 False 2 0;100;0 4.10 False ENSG00000088038 ENSG00000088038 HGNC:7879 DIAPH1 gene DIAPH1 Expert Review Amber;Literature Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Seizures, cortical blindness, microcephaly syndrome, OMIM:616632;progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, MONDO:0014714 34125151;37400591;37012328 False 2 0;100;0 4.10 False Other ENSG00000131504 ENSG00000131504 HGNC:2876 EPHB4 gene EPHB4 Expert list;Expert Review Amber;NHS GMS;Yorkshire and North East GLH Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Capillary malformation-arteriovenous malformation 2, OMIM:618196 False 2 50;50;0 4.10 False ENSG00000196411 ENSG00000196411 HGNC:3395 FLVCR2 gene FLVCR2 Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology BIALLELIC, autosomal or pseudoautosomal Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome, OMIM:225790 20206334 False 2 67;33;0 4.10 False ENSG00000119686 ENSG00000119686 HGNC:20105 FOXM1 gene FOXM1 Expert Review Amber;Literature Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Moyamoya disease, MONDO:0016820 38969938 False 2 0;100;0 4.10 False ENSG00000111206 ENSG00000111206 HGNC:3818 GDF2 gene GDF2 Emory Genetics Laboratory;Expert Review Amber;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 5, OMIM:615506 False 2 0;100;0 4.10 False ENSG00000128802 ENSG00000263761 HGNC:4217 HBB gene HBB Emory Genetics Laboratory;Expert Review Amber;Literature;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology BIALLELIC, autosomal or pseudoautosomal Sickle cell anemia, OMIM:603903 20301551 False 2 33;67;0 4.10 False ENSG00000244734 ENSG00000244734 HGNC:4827 ITGB1 gene ITGB1 Expert Review Amber;Literature Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Vein of Galen aneurysmal malformation, HP:0030713 37978175 False 2 0;100;0 4.10 False ENSG00000150093 ENSG00000150093 HGNC:6153 KEL gene KEL Expert Review Amber;Literature Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown vein of Galen aneurysm, MONDO:0015196 30578106;37978175 False 2 0;100;0 4.10 False ENSG00000197993 ENSG00000197993 HGNC:6308 MRVI1 gene MRVI1 Expert list;Expert Review Amber;NHS GMS;Yorkshire and North East GLH Cerebral vascular malformations Neurology Unknown False 2 0;100;0 4.10 False ENSG00000072952 ENSG00000072952 HGNC:7237 MYH11 gene MYH11 Expert Review Amber;Literature;NHS GMS;Yorkshire and North East GLH Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown moyamoya-like angiopath;Aortic aneurysm, familial thoracic 4, OMIM:132900 29263223;16444274 False 2 0;50;50 4.10 False ENSG00000133392 ENSG00000133392 HGNC:7569 NF1 gene NF1 Expert list;Expert Review Amber;NHS GMS;Yorkshire and North East GLH Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Moyamoya disease, MONDO:0016820;Neurofibromatosis, type 1, OMIM:162200 10754001 False 2 50;50;0 4.10 False ENSG00000196712 ENSG00000196712 HGNC:7765 NOS3 gene NOS3 Expert Review Amber;Literature Cerebral vascular malformations Neurology BIALLELIC, autosomal or pseudoautosomal Moyamoya disease, MONDO:0016820 36941667;37383439 False 2 0;100;0 4.10 False ENSG00000164867 ENSG00000164867 HGNC:7876 PCNT gene PCNT Expert list;Expert Review Amber;NHS GMS;Yorkshire and North East GLH Cerebral vascular malformations Neurology BIALLELIC, autosomal or pseudoautosomal Moyamoya disease, MONDO:0016820;Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720 15368497 False 2 50;50;0 4.10 False ENSG00000160299 ENSG00000160299 HGNC:16068 PKD1 gene PKD1 Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Polycystic kidney disease, adult type I, OMIM:173900 False 2 50;50;0 4.10 False ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 Emory Genetics Laboratory;Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 2, OMIM:613095 False 2 50;50;0 4.10 False ENSG00000118762 ENSG00000118762 HGNC:9009 SETD5 gene SETD5 Expert Review Amber;Literature Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Moyamoya disease MONDO:0016820;Mental retardation, autosomal dominant 23 OMIM:615761;intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO:0014336 31474762;24680889;23020937;25138099 False 2 0;67;33 4.10 False ENSG00000168137 ENSG00000168137 HGNC:25566 SMAD9 gene SMAD9 Expert list;Expert Review Amber;NHS GMS;Yorkshire and North East GLH Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 4.10 False ENSG00000120693 ENSG00000120693 HGNC:6774 THSD1 gene THSD1 Expert Review Amber;Literature;NHS GMS;Yorkshire and North East GLH Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown subarachnoid hemorrhage 27895300 False 2 0;100;0 4.10 False ENSG00000136114 ENSG00000136114 HGNC:17754 ABCC6 gene ABCC6 Expert list;Expert Review Red;NHS GMS;Yorkshire and North East GLH Cerebral vascular malformations Neurology Unknown Moyamoya disease False 1 0;0;100 4.10 False ENSG00000091262 ENSG00000091262 HGNC:57 ACE gene ACE Expert Review Red;NHS GMS;Other;Yorkshire and North East GLH Cerebral vascular malformations Neurology {Stroke, hemorrhagic} False 1 0;0;100 4.10 False ENSG00000159640 ENSG00000159640 HGNC:2707 ADGRG1 gene ADGRG1 Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral Malformation Disorders False 1 0;0;100 4.10 False ENSG00000205336 ENSG00000205336 HGNC:4512 ANTXR1 gene ANTXR1 Expert Review Red;NHS GMS;Other;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {?Hemangioma, capillary infantile, susceptibility to} , OMIM:602089 False 1 0;0;100 4.10 False ENSG00000169604 ENSG00000169604 HGNC:21014 ARX gene ARX Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral Malformation Disorders False 1 0;0;100 4.10 False ENSG00000004848 ENSG00000004848 HGNC:18060 ATP7A gene ATP7A Expert list;Expert Review Red;NHS GMS;Yorkshire and North East GLH Cerebral vascular malformations Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Moyamoya disease False 1 0;0;100 4.10 False ENSG00000165240 ENSG00000165240 HGNC:869 BRCC3 gene BRCC3 Expert list;Expert Review Red;NHS GMS;Yorkshire and North East GLH Cerebral vascular malformations Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Moyamoya disease 21596366 False 1 0;0;100 4.10 False ENSG00000185515 ENSG00000185515 HGNC:24185 CBS gene CBS Expert Review Red;Literature Cerebral vascular malformations Neurology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 4.10 False ENSG00000160200 ENSG00000160200 HGNC:1550 CENPJ gene CENPJ Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Literature;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 4 613676 False 1 0;100;0 4.10 False ENSG00000151849 ENSG00000151849 HGNC:17272 CEP63 gene CEP63 Expert Review Red;Literature;NHS GMS;Yorkshire and North East GLH Cerebral vascular malformations Neurology BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 6 614728 21983783 False 1 0;100;0 4.10 False ENSG00000182923 ENSG00000182923 HGNC:25815 COL4A1 gene COL4A1 Expert Review Red;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 {Hemorrhage, intracerebral, susceptibility to}, 614519;Brain Small Vessel Disease with Hemorrhage;{Hemorrhage, intracerebral, susceptibility to};Brain small vessel disease with or without ocular anomalies False 1 0;0;100 4.10 False ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A2 gene COL4A2 Expert Review Red;NHS GMS;Other;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Cerebral vascular malformations Neurology {Hemorrhage, intracerebral, susceptibility to}, 614519;{Hemorrhage, intracerebral, susceptibility to} False 1 0;0;100 4.10 False ENSG00000134871 ENSG00000134871 HGNC:2203 CRB1 gene CRB1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Yorkshire and North East GLH Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pigmented Paravenous Chorioretinal Atrophy False 1 0;0;100 4.10 False ENSG00000134376 ENSG00000134376 HGNC:2343 CTSA gene CTSA Expert list;NHS GMS;Yorkshire and North East GLH Cerebral vascular malformations Neurology Unknown False 1 0;0;100 4.10 False ENSG00000064601 ENSG00000064601 HGNC:9251 DCX gene DCX Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Lissencephaly, X-linked, OMIM:300067;Subcortical laminal heterotopia, X-linked, OMIM:300067 False 1 0;0;100 4.10 False ENSG00000077279 ENSG00000077279 HGNC:2714 DNA2 gene DNA2 Expert Review Red;Literature;NHS GMS;Yorkshire and North East GLH Cerebral vascular malformations Neurology BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 8, OMIM:615807 24389050 False 1 0;100;0 4.10 False ENSG00000138346 ENSG00000138346 HGNC:2939 ELN gene ELN Expert list;Expert Review Red;NHS GMS;Yorkshire and North East GLH Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Moyamoya disease;Aneurysm, intracranial berry, 1 105800 8460548 False 1 0;50;50 4.10 False ENSG00000049540 ENSG00000049540 HGNC:3327 EVL gene EVL Expert Review Red;Literature Cerebral vascular malformations Neurology BIALLELIC, autosomal or pseudoautosomal Moyamoya disease, MONDO:0016820 34125151 False 1 0;0;100 4.10 False ENSG00000196405 ENSG00000196405 HGNC:20234 FBN1 gene FBN1 Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marfan syndrome 154700 False 1 0;0;100 4.10 False ENSG00000166147 ENSG00000166147 HGNC:3603 FLT4 gene FLT4 Expert Review Red;NHS GMS;Other;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Cerebral vascular malformations Neurology Hemangioma, capillary infantile, somatic, 602089;Hemangioma, capillary infantile, somatic False 1 0;0;100 4.10 False ENSG00000037280 ENSG00000037280 HGNC:3767 FOXF1 gene FOXF1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380;Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins False 1 0;0;0 4.10 False ENSG00000103241 ENSG00000103241 HGNC:3809 GLA gene GLA Expert list;Expert Review Red;NHS GMS;Yorkshire and North East GLH Cerebral vascular malformations Neurology Unknown Moyamoya disease False 1 0;0;100 4.10 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLMN gene GLMN Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Glomuvenous malformations;Glomuvenous Malformation False 1 0;0;100 4.10 False ENSG00000174842 ENSG00000174842 HGNC:14373 GNAQ gene GNAQ Expert Review Red;NHS GMS;Other;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral diseases of vascular origin with epilepsy;Capillary malformations, congenital, 1, somatic, mosaic, 163000 False 1 0;0;100 4.10 False ENSG00000156052 ENSG00000156052 HGNC:4390 HLA-B gene HLA-B Expert list;Expert Review Red;NHS GMS;Yorkshire and North East GLH Cerebral vascular malformations Neurology Unknown Moyamoya disease PMID: 21349441;14676447 False 1 0;0;100 4.10 False ENSG00000234745 ENSG00000234745 HGNC:4932 HLA-DQB1 gene HLA-DQB1 Expert list;Expert Review Red;NHS GMS;Yorkshire and North East GLH Cerebral vascular malformations Neurology Unknown Moyamoya disease PMID: 21349441; 9409445 False 1 0;0;0 4.10 False ENSG00000179344 ENSG00000179344 HGNC:4944 HLA-DRB1 gene HLA-DRB1 Expert list;Expert Review Red;NHS GMS;Yorkshire and North East GLH Cerebral vascular malformations Neurology Unknown Moyamoya disease PMID: 7886716; 21349441 False 1 0;0;0 4.10 False ENSG00000196126 ENSG00000196126 HGNC:4948 HTRA1 gene HTRA1 Expert list;Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Cerebral vascular malformations Neurology Unknown Moyamoya disease;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 False 1 0;0;100 4.10 False ENSG00000166033 ENSG00000166033 HGNC:9476 IL6 gene IL6 Expert Review Red;NHS GMS;Other;Yorkshire and North East GLH Cerebral vascular malformations Neurology {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to} False 1 0;0;100 4.10 False ENSG00000136244 ENSG00000136244 HGNC:6018 JAG1 gene JAG1 Expert list;Expert Review Red;NHS GMS;Yorkshire and North East GLH Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome 1, OMIM:118450;Moyamoya disease 22759690;22759690 False 1 50;0;50 4.10 False ENSG00000101384 ENSG00000101384 HGNC:6188 KDR gene KDR Expert Review Red;NHS GMS;Other;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hemangioma, capillary infantile, somatic, 602089;{Hemangioma, capillary infantile, susceptibility to}, 602089;{Hemangioma, capillary infantile, susceptibility to}; Hemangioma, capillary infantile, somatic;Hemangioma, capillary infantile, somatic, 602089 False 1 0;0;100 4.10 False ENSG00000128052 ENSG00000128052 HGNC:6307 LAMB1 gene LAMB1 Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral Malformation Disorders False 1 0;0;100 4.10 False ENSG00000091136 ENSG00000091136 HGNC:6486 LAMC3 gene LAMC3 Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral Malformation Disorders False 1 0;0;100 4.10 False ENSG00000050555 ENSG00000050555 HGNC:6494 LARGE1 gene LARGE1 Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral Malformation Disorders False 1 0;0;100 4.10 False ENSG00000133424 ENSG00000133424 HGNC:6511 MEF2C gene MEF2C Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443;Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations;Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations False 1 0;0;0 4.10 False ENSG00000081189 ENSG00000081189 HGNC:6996 NDE1 gene NDE1 Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral Malformation Disorders False 1 0;0;100 4.10 False ENSG00000072864 ENSG00000072864 HGNC:17619 NIN gene NIN Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Cerebral vascular malformations Neurology BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 7 614851 22933543 False 1 0;100;0 4.10 False ENSG00000100503 ENSG00000100503 HGNC:14906 NOTCH3 gene NOTCH3 Expert list;Expert Review Red;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 arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310 8878478;20301673 False 1 50;0;50 4.10 False Other - please provide details in the comments ENSG00000074181 ENSG00000074181 HGNC:7883 OCLN gene OCLN Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral Malformation Disorders False 1 0;0;100 4.10 False ENSG00000197822 ENSG00000197822 HGNC:8104 OPHN1 gene OPHN1 Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral Malformation Disorders False 1 0;0;100 4.10 False ENSG00000079482 ENSG00000079482 HGNC:8148 PAFAH1B1 gene PAFAH1B1 Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Lissencephaly 1, OMIM:607432;Subcortical laminar heterotopia, OMIM:607432 False 1 0;0;100 4.10 False ENSG00000007168 ENSG00000007168 HGNC:8574 PIK3CA gene PIK3CA Expert Review Red;NHS GMS;Other;Radboud University Medical Center, Nijmegen;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Other Cerebral cavernous malformations 4, somatic, OMIM:619538 34496175 False 1 33;33;33 4.10 False ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3R2 gene PIK3R2 Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral Malformation Disorders False 1 0;0;100 4.10 False ENSG00000105647 ENSG00000105647 HGNC:8980 POMGNT1 gene POMGNT1 Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral Malformation Disorders False 1 0;0;100 4.10 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMT1 gene POMT1 Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral Malformation Disorders False 1 0;0;100 4.10 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral Malformation Disorders False 1 0;0;100 4.10 False ENSG00000009830 ENSG00000009830 HGNC:19743 PTEN gene PTEN Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bannayan-Riley-Ruvalcaba Syndrome False 1 0;0;100 4.10 False ENSG00000171862 ENSG00000171862 HGNC:9588 RBBP8 gene RBBP8 Expert Review Red;Literature;NHS GMS;Yorkshire and North East GLH Cerebral vascular malformations Neurology BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 2 606744 21998596 False 1 0;100;0 4.10 False ENSG00000101773 ENSG00000101773 HGNC:9891 RELN gene RELN Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral Malformation Disorders False 1 0;0;100 4.10 False ENSG00000189056 ENSG00000189056 HGNC:9957 RTTN gene RTTN Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral Malformation Disorders False 1 0;0;100 4.10 False ENSG00000176225 ENSG00000176225 HGNC:18654 SIRT1 gene SIRT1 Expert Review Red;Literature Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Vein of Galen Malformation 30578106 False 1 0;0;100 4.10 False ENSG00000096717 ENSG00000096717 HGNC:14929 SMAD3 gene SMAD3 Emory Genetics Laboratory;Expert Review Red;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, NOT imprinted Loeys-Dietz syndrome 3 613795 False 1 50;0;50 4.10 False ENSG00000166949 ENSG00000166949 HGNC:6769 SMARCAL1 gene SMARCAL1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Cerebral vascular malformations Neurology BIALLELIC, autosomal or pseudoautosomal Schimke immunoosseous dysplasia, OMIM:242900 9674900 False 1 0;0;100 4.10 False ENSG00000138375 ENSG00000138375 HGNC:11102 SRPX2 gene SRPX2 Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral Malformation Disorders False 1 0;0;100 4.10 False ENSG00000102359 ENSG00000102359 HGNC:30668 STAMBP gene STAMBP Expert Review Red;NHS GMS;Other;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Cerebral vascular malformations Neurology BIALLELIC, autosomal or pseudoautosomal Microcephaly-capillary malformation syndrome, 614261;Microcephaly-capillary malformation syndrome False 1 0;0;100 4.10 False ENSG00000124356 ENSG00000124356 HGNC:16950 TEK gene TEK Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Yorkshire and North East GLH Cerebral vascular malformations Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Venous malformations, multiple cutaneous and mucosal, 600195;Multiple Cutaneous and Mucosal Venous Malformations False 1 0;0;100 4.10 False ENSG00000120156 ENSG00000120156 HGNC:11724 TGFB2 gene TGFB2 Emory Genetics Laboratory;Expert Review Red;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, NOT imprinted Loeys-Dietz syndrome 4 614816 False 1 50;0;50 4.10 False ENSG00000092969 ENSG00000092969 HGNC:11768 TGFBR1 gene TGFBR1 Expert Review Red;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, NOT imprinted Loeys-Dietz syndrome 1 609192 False 1 50;0;50 4.10 False ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Emory Genetics Laboratory;Expert Review Red;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, NOT imprinted Loeys-Dietz syndrome 2 610168 False 1 50;0;50 4.10 False ENSG00000163513 ENSG00000163513 HGNC:11773 TMEM5 gene TMEM5 Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral Malformation Disorders False 1 0;0;100 4.10 False ENSG00000118600 ENSG00000118600 HGNC:13530 TRAIP gene TRAIP Expert Review Red;Literature;NHS GMS;Yorkshire and North East GLH Cerebral vascular malformations Neurology BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 9, OMIM:616777 26595769 False 1 0;100;0 4.10 False ENSG00000183763 ENSG00000183763 HGNC:30764 TUBA1A gene TUBA1A Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral Malformation Disorders False 1 0;0;100 4.10 False ENSG00000167552 ENSG00000167552 HGNC:20766 TUBA8 gene TUBA8 Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral Malformation Disorders False 1 0;0;100 4.10 False ENSG00000183785 ENSG00000183785 HGNC:12410 TUBB gene TUBB Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral Malformation Disorders False 1 0;0;100 4.10 False ENSG00000196230 ENSG00000196230 HGNC:20778 TUBB2A gene TUBB2A Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763;Complex cortical dysplasia with other brain malformations 5, MONDO:0014337 False 1 0;0;100 4.10 False ENSG00000137267 ENSG00000137267 HGNC:12412 TUBB2B gene TUBB2B Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral Malformation Disorders False 1 0;0;100 4.10 False ENSG00000137285 ENSG00000137285 HGNC:30829 TUBB3 gene TUBB3 Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral Malformation Disorders False 1 0;0;100 4.10 False ENSG00000258947 ENSG00000258947 HGNC:20772 TUBG1 gene TUBG1 Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral Malformation Disorders False 1 0;0;100 4.10 False ENSG00000131462 ENSG00000131462 HGNC:12417 VLDLR gene VLDLR Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral Malformation Disorders False 1 0;0;100 4.10 False ENSG00000147852 ENSG00000147852 HGNC:12698 WDR62 gene WDR62 Expert Review Red;NHS GMS;UKGTN;Yorkshire and North East GLH Cerebral vascular malformations Neurology Cerebral Malformation Disorders False 1 0;0;100 4.10 False ENSG00000075702 ENSG00000075702 HGNC:24502