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