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 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