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Cerebral vascular malformations v1.9 BRCC3 Zornitza Stark Phenotypes for gene: BRCC3 were changed from Moyamoya disease to MoyaMoya Disease, syndromic, MONDO:0016820
Cerebral vascular malformations v1.8 BRCC3 Zornitza Stark Mode of inheritance for gene: BRCC3 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebral vascular malformations v1.7 BRCC3 Zornitza Stark Classified gene: BRCC3 as Amber List (moderate evidence)
Cerebral vascular malformations v1.7 BRCC3 Zornitza Stark Gene: brcc3 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v1.6 BRCC3 Zornitza Stark Tag SV/CNV tag was added to gene: BRCC3.
Cerebral vascular malformations v1.6 BRCC3 Zornitza Stark edited their review of gene: BRCC3: Changed rating: AMBER
Cerebral vascular malformations v1.6 NOS3 Zornitza Stark Marked gene: NOS3 as ready
Cerebral vascular malformations v1.6 NOS3 Zornitza Stark Gene: nos3 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v1.6 NOS3 Zornitza Stark Classified gene: NOS3 as Amber List (moderate evidence)
Cerebral vascular malformations v1.6 NOS3 Zornitza Stark Gene: nos3 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v1.5 NOS3 Zornitza Stark gene: NOS3 was added
gene: NOS3 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: NOS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NOS3 were set to 36941667; 37383439
Phenotypes for gene: NOS3 were set to Moyamoya disease, MONDO:0016820
Review for gene: NOS3 was set to AMBER
Added comment: PMID:36941667 analysed six patients from a cohort of 126 consecutive unrelated probands with Moyamoya angiopathy (MMA) of unknown etiology. Two of these six patients were identified with homozygous NOS3 variants, of which one is missense (c.1942T> C, p.(Cys648Arg)) and the other is splice-site variant (c.1502 + 1G > C). Both probands with NOS3 variants suffered from an infant-onset and severe MMA associated with posterior cerebral artery steno-occlusive lesions. There is also some functional evidence available for both variants.

PMID:37383439 reported six patients with Moyamoya disease, of which one patient was identified with monoallelic missense NOS3 variant (c.1684G>A; p.Glu562Lys.

In summary, there are two unrelated cases and some functional evidence available for the association of biallelic variants with MMA. However, there is only one case with monoallelic NOS3 variant. The pathogenicity of this monoallelic variant was not explored in detail in the publication
Sources: Literature
Cerebral vascular malformations v1.4 KEL Zornitza Stark Marked gene: KEL as ready
Cerebral vascular malformations v1.4 KEL Zornitza Stark Gene: kel has been classified as Red List (Low Evidence).
Cerebral vascular malformations v1.4 KEL Zornitza Stark gene: KEL was added
gene: KEL was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: KEL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KEL were set to 30578106; 37978175
Phenotypes for gene: KEL were set to vein of Galen aneurysm, MONDO:0015196
Review for gene: KEL was set to RED
Added comment: PMID:37978175 reported a cohort of 114 probands with radiographically confirmed vein of Galen malformations (VOGMs), which is the most common and most severe of congenital brain arteriovenous malformations. This includes 55 cases already reported in PMID:30578106. Of these cases, only two were identified with variants in KEL gene (p.(Gln321Ter) & p.(Gly202Ser)).There is no functional evidence or segregation evidence available.
Sources: Literature
Cerebral vascular malformations v1.3 FOXM1 Bryony Thompson Marked gene: FOXM1 as ready
Cerebral vascular malformations v1.3 FOXM1 Bryony Thompson Gene: foxm1 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v1.3 FOXM1 Bryony Thompson Classified gene: FOXM1 as Amber List (moderate evidence)
Cerebral vascular malformations v1.3 FOXM1 Bryony Thompson Gene: foxm1 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v1.1 FOXM1 Bryony Thompson gene: FOXM1 was added
gene: FOXM1 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: FOXM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXM1 were set to 38969938
Phenotypes for gene: FOXM1 were set to Moyamoya disease MONDO:0016820
Cerebral vascular malformations v1.0 Bryony Thompson promoted panel to version 1.0
Cerebral vascular malformations v0.116 COL4A2 Sangavi Sivagnanasundram changed review comment from: 22209247 - COL4A1 form heterotrimers with COL4A2 which results in the cerebral vascular phenotype. No pathogenic variants in COL1A2 have been reported in individuals with a cerebral vascular phenotype.

COL4A2 is typically associated with haemorrhagic strokes with no evidence of any cerebral vascular malformations.; to: 22209247 - COL4A1 form heterotrimers with COL4A2 which results in the cerebral vascular phenotype. No pathogenic variants in COL4A2 have been reported in individuals with a cerebral vascular phenotype.

COL4A2 is typically associated with haemorrhagic strokes with no evidence of any cerebral vascular malformations.
Cerebral vascular malformations v0.116 COL4A2 Sangavi Sivagnanasundram changed review comment from: 22209247 - COL1A1 form heterotrimers with COL2A2 which results in the cerebral vascular phenotype. No pathogenic variants in COL1A2 have been reported in individuals with a cerebral vascular phenotype.

COL2A2 is typically associated with haemorrhagic strokes with no evidence of any cerebral vascular malformations.; to: 22209247 - COL4A1 form heterotrimers with COL4A2 which results in the cerebral vascular phenotype. No pathogenic variants in COL1A2 have been reported in individuals with a cerebral vascular phenotype.

COL4A2 is typically associated with haemorrhagic strokes with no evidence of any cerebral vascular malformations.
Cerebral vascular malformations v0.116 PKD1 Bryony Thompson Classified gene: PKD1 as Green List (high evidence)
Cerebral vascular malformations v0.116 PKD1 Bryony Thompson Gene: pkd1 has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.115 PKD1 Bryony Thompson Classified gene: PKD1 as Amber List (moderate evidence)
Cerebral vascular malformations v0.115 PKD1 Bryony Thompson Gene: pkd1 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v0.114 PCNT Bryony Thompson Marked gene: PCNT as ready
Cerebral vascular malformations v0.114 PCNT Bryony Thompson Gene: pcnt has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.114 PCNT Bryony Thompson Classified gene: PCNT as Green List (high evidence)
Cerebral vascular malformations v0.114 PCNT Bryony Thompson Gene: pcnt has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.113 PCNT Bryony Thompson Publications for gene: PCNT were set to 15368497
Cerebral vascular malformations v0.112 MYH11 Bryony Thompson Marked gene: MYH11 as ready
Cerebral vascular malformations v0.112 MYH11 Bryony Thompson Gene: myh11 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.112 MYH11 Bryony Thompson Publications for gene: MYH11 were set to 16444274; 29263223
Cerebral vascular malformations v0.111 MYH11 Bryony Thompson Classified gene: MYH11 as Red List (low evidence)
Cerebral vascular malformations v0.111 MYH11 Bryony Thompson Gene: myh11 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.110 MRVI1 Bryony Thompson Marked gene: MRVI1 as ready
Cerebral vascular malformations v0.110 MRVI1 Bryony Thompson Gene: mrvi1 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.110 MRVI1 Bryony Thompson Classified gene: MRVI1 as Red List (low evidence)
Cerebral vascular malformations v0.110 MRVI1 Bryony Thompson Gene: mrvi1 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.109 FLVCR2 Bryony Thompson Classified gene: FLVCR2 as Green List (high evidence)
Cerebral vascular malformations v0.109 FLVCR2 Bryony Thompson Gene: flvcr2 has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.108 FLVCR2 Bryony Thompson reviewed gene: FLVCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38693257, 32333401, 20206334; Phenotypes: Proliferative vasculopathy and hydranencephaly/hydrocephaly MONDO:0009168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Cerebral vascular malformations v0.108 CEP152 Bryony Thompson Marked gene: CEP152 as ready
Cerebral vascular malformations v0.108 CEP152 Bryony Thompson Gene: cep152 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.108 CEP152 Bryony Thompson Classified gene: CEP152 as Red List (low evidence)
Cerebral vascular malformations v0.108 CEP152 Bryony Thompson Gene: cep152 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.107 ATR Bryony Thompson Classified gene: ATR as Red List (low evidence)
Cerebral vascular malformations v0.107 ATR Bryony Thompson Gene: atr has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.106 NF1 Bryony Thompson Marked gene: NF1 as ready
Cerebral vascular malformations v0.106 NF1 Bryony Thompson Gene: nf1 has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.106 NF1 Bryony Thompson Classified gene: NF1 as Green List (high evidence)
Cerebral vascular malformations v0.106 NF1 Bryony Thompson Gene: nf1 has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.105 NF1 Bryony Thompson reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39367156, 39380389, 20301288; Phenotypes: Neurofibromatosis type 1 MONDO:0018975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Cerebral vascular malformations v0.105 Bryony Thompson removed gene:ELN from the panel
Cerebral vascular malformations v0.104 Bryony Thompson removed gene:FBN1 from the panel
Cerebral vascular malformations v0.103 Bryony Thompson removed gene:FLT4 from the panel
Cerebral vascular malformations v0.102 Bryony Thompson removed gene:FOXF1 from the panel
Cerebral vascular malformations v0.101 Bryony Thompson removed gene:GLA from the panel
Cerebral vascular malformations v0.100 Bryony Thompson removed gene:GLMN from the panel
Cerebral vascular malformations v0.99 Bryony Thompson removed gene:GNAQ from the panel
Cerebral vascular malformations v0.98 Bryony Thompson removed gene:HLA-B from the panel
Cerebral vascular malformations v0.97 Bryony Thompson removed gene:HLA-DQB1 from the panel
Cerebral vascular malformations v0.96 Bryony Thompson removed gene:HLA-DRB1 from the panel
Cerebral vascular malformations v0.95 Bryony Thompson removed gene:HTRA1 from the panel
Cerebral vascular malformations v0.94 Bryony Thompson removed gene:IL6 from the panel
Cerebral vascular malformations v0.93 Bryony Thompson removed gene:JAG1 from the panel
Cerebral vascular malformations v0.92 Bryony Thompson removed gene:KDR from the panel
Cerebral vascular malformations v0.91 Bryony Thompson removed gene:LAMB1 from the panel
Cerebral vascular malformations v0.90 Bryony Thompson removed gene:LAMC3 from the panel
Cerebral vascular malformations v0.89 Bryony Thompson removed gene:LARGE1 from the panel
Cerebral vascular malformations v0.88 Bryony Thompson removed gene:MEF2C from the panel
Cerebral vascular malformations v0.87 Bryony Thompson removed gene:NDE1 from the panel
Cerebral vascular malformations v0.86 Bryony Thompson removed gene:NIN from the panel
Cerebral vascular malformations v0.85 Bryony Thompson removed gene:NOTCH3 from the panel
Cerebral vascular malformations v0.84 Bryony Thompson removed gene:OCLN from the panel
Cerebral vascular malformations v0.83 Bryony Thompson removed gene:OPHN1 from the panel
Cerebral vascular malformations v0.82 Bryony Thompson removed gene:PAFAH1B1 from the panel
Cerebral vascular malformations v0.81 Bryony Thompson removed gene:PIK3R2 from the panel
Cerebral vascular malformations v0.80 Bryony Thompson removed gene:POMGNT1 from the panel
Cerebral vascular malformations v0.79 Bryony Thompson removed gene:POMT1 from the panel
Cerebral vascular malformations v0.78 Bryony Thompson removed gene:POMT2 from the panel
Cerebral vascular malformations v0.77 Bryony Thompson removed gene:PTEN from the panel
Cerebral vascular malformations v0.76 Bryony Thompson removed gene:RBBP8 from the panel
Cerebral vascular malformations v0.75 Bryony Thompson removed gene:RELN from the panel
Cerebral vascular malformations v0.74 Bryony Thompson removed gene:RTTN from the panel
Cerebral vascular malformations v0.73 Bryony Thompson removed gene:SMAD3 from the panel
Cerebral vascular malformations v0.72 Bryony Thompson removed gene:SMARCAL1 from the panel
Cerebral vascular malformations v0.71 Bryony Thompson removed gene:SRPX2 from the panel
Cerebral vascular malformations v0.70 Bryony Thompson removed gene:STAMBP from the panel
Cerebral vascular malformations v0.69 Bryony Thompson removed gene:TEK from the panel
Cerebral vascular malformations v0.68 Bryony Thompson removed gene:TGFB2 from the panel
Cerebral vascular malformations v0.67 Bryony Thompson removed gene:TGFBR1 from the panel
Cerebral vascular malformations v0.66 Bryony Thompson removed gene:TGFBR2 from the panel
Cerebral vascular malformations v0.65 Bryony Thompson removed gene:TMEM5 from the panel
Cerebral vascular malformations v0.64 Bryony Thompson removed gene:TRAIP from the panel
Cerebral vascular malformations v0.63 Bryony Thompson removed gene:TUBA1A from the panel
Cerebral vascular malformations v0.62 Bryony Thompson removed gene:TUBA8 from the panel
Cerebral vascular malformations v0.61 Bryony Thompson removed gene:TUBB from the panel
Cerebral vascular malformations v0.60 Bryony Thompson removed gene:TUBB2A from the panel
Cerebral vascular malformations v0.59 Bryony Thompson removed gene:TUBB2B from the panel
Cerebral vascular malformations v0.58 Bryony Thompson removed gene:TUBB3 from the panel
Cerebral vascular malformations v0.57 Bryony Thompson removed gene:TUBG1 from the panel
Cerebral vascular malformations v0.56 Bryony Thompson removed gene:VLDLR from the panel
Cerebral vascular malformations v0.55 Bryony Thompson removed gene:WDR62 from the panel
Cerebral vascular malformations v0.54 Bryony Thompson removed gene:DNA2 from the panel
Cerebral vascular malformations v0.53 Bryony Thompson removed gene:ATP7A from the panel
Cerebral vascular malformations v0.52 PKD1 Bryony Thompson Classified gene: PKD1 as Green List (high evidence)
Cerebral vascular malformations v0.52 PKD1 Bryony Thompson Gene: pkd1 has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.51 EPHB4 Bryony Thompson Classified gene: EPHB4 as Green List (high evidence)
Cerebral vascular malformations v0.51 EPHB4 Bryony Thompson Gene: ephb4 has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.50 CEP63 Zornitza Stark Marked gene: CEP63 as ready
Cerebral vascular malformations v0.50 CEP63 Zornitza Stark Gene: cep63 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.50 COL4A2 Zornitza Stark Marked gene: COL4A2 as ready
Cerebral vascular malformations v0.50 COL4A2 Zornitza Stark Gene: col4a2 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.50 COL4A2 Zornitza Stark Phenotypes for gene: COL4A2 were changed from {Hemorrhage, intracerebral, susceptibility to}, 614519; {Hemorrhage, intracerebral, susceptibility to} to Stroke, hemorrhagic MIM#614519
Cerebral vascular malformations v0.49 COL4A2 Zornitza Stark Publications for gene: COL4A2 were set to
Cerebral vascular malformations v0.48 COL4A2 Zornitza Stark Mode of inheritance for gene: COL4A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.47 CRB1 Zornitza Stark Marked gene: CRB1 as ready
Cerebral vascular malformations v0.47 CRB1 Zornitza Stark Gene: crb1 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.47 CRB1 Zornitza Stark Phenotypes for gene: CRB1 were changed from Pigmented Paravenous Chorioretinal Atrophy to Pigmented paravenous chorioretinal atrophy MIM#172870
Cerebral vascular malformations v0.46 CTSA Zornitza Stark Marked gene: CTSA as ready
Cerebral vascular malformations v0.46 CTSA Zornitza Stark Gene: ctsa has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.46 CTSA Zornitza Stark Phenotypes for gene: CTSA were changed from to galactosialidosis MONDO:0009737
Cerebral vascular malformations v0.45 CTSA Zornitza Stark Mode of inheritance for gene: CTSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v0.44 DCX Zornitza Stark Marked gene: DCX as ready
Cerebral vascular malformations v0.44 DCX Zornitza Stark Gene: dcx has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.44 DCX Zornitza Stark Phenotypes for gene: DCX were changed from Cerebral Malformation Disorders to lissencephaly spectrum disorders MONDO:0018838
Cerebral vascular malformations v0.43 ADGRG1 Zornitza Stark Marked gene: ADGRG1 as ready
Cerebral vascular malformations v0.43 ADGRG1 Zornitza Stark Gene: adgrg1 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.43 ADGRG1 Zornitza Stark Phenotypes for gene: ADGRG1 were changed from Cerebral Malformation Disorders to bilateral frontoparietal polymicrogyria MONDO:0011738
Cerebral vascular malformations v0.42 ANTXR1 Zornitza Stark Marked gene: ANTXR1 as ready
Cerebral vascular malformations v0.42 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.42 ANTXR1 Zornitza Stark Phenotypes for gene: ANTXR1 were changed from {Hemangioma, capillary infantile, susceptibility to}, 602089; {Hemangioma, capillary infantile, susceptibility to} to GAPO syndrome MONDO:0009263
Cerebral vascular malformations v0.41 ANTXR1 Zornitza Stark Publications for gene: ANTXR1 were set to
Cerebral vascular malformations v0.40 ANTXR1 Zornitza Stark Mode of inheritance for gene: ANTXR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v0.39 ARX Zornitza Stark Marked gene: ARX as ready
Cerebral vascular malformations v0.39 ARX Zornitza Stark Gene: arx has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.39 ARX Sangavi Sivagnanasundram reviewed gene: ARX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v0.39 ANTXR1 Sangavi Sivagnanasundram reviewed gene: ANTXR1: Rating: RED; Mode of pathogenicity: None; Publications: 24664815; Phenotypes: GAPO syndrome MONDO:0009263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v0.39 ADGRG1 Sangavi Sivagnanasundram reviewed gene: ADGRG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: bilateral frontoparietal polymicrogyria MONDO:0011738; Mode of inheritance: None
Cerebral vascular malformations v0.39 DCX Sangavi Sivagnanasundram reviewed gene: DCX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: lissencephaly spectrum disorders MONDO:0018838; Mode of inheritance: None
Cerebral vascular malformations v0.39 CTSA Sangavi Sivagnanasundram reviewed gene: CTSA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: galactosialidosis MONDO:0009737; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v0.39 CRB1 Sangavi Sivagnanasundram reviewed gene: CRB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v0.39 COL4A2 Sangavi Sivagnanasundram reviewed gene: COL4A2: Rating: RED; Mode of pathogenicity: None; Publications: 22209247; Phenotypes: Stroke, hemorrhagic MIM#614519; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.39 CEP63 Sangavi Sivagnanasundram reviewed gene: CEP63: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v0.39 CENPJ Sangavi Sivagnanasundram reviewed gene: CENPJ: Rating: RED; Mode of pathogenicity: None; Publications: 20522431; Phenotypes: Seckel syndrome MONDO:0019342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v0.39 ACE Sangavi Sivagnanasundram reviewed gene: ACE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v0.39 THSD1 Sangavi Sivagnanasundram reviewed gene: THSD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27895300; Phenotypes: intracranial berry aneurysm MONDO:0016483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebral vascular malformations v0.39 SMAD9 Sangavi Sivagnanasundram reviewed gene: SMAD9: Rating: AMBER; Mode of pathogenicity: None; Publications: 29844917; Phenotypes: arteriovenous malformations of the brain MONDO:0007154; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebral vascular malformations v0.39 PKD2 Sangavi Sivagnanasundram reviewed gene: PKD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301424; Phenotypes: polycystic kidney disease 2 MONDO:0013131; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cerebral vascular malformations v0.39 PKD1 Sangavi Sivagnanasundram reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301424, 35108395, 26260542; Phenotypes: polycystic kidney disease 1 MONDO:0008263; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cerebral vascular malformations v0.39 PCNT Sangavi Sivagnanasundram reviewed gene: PCNT: Rating: AMBER; Mode of pathogenicity: None; Publications: 34978779, 19839044, 37234811, 34923567; Phenotypes: microcephalic osteodysplastic primordial dwarfism type II MONDO:0008872, Moyamoya disease MONDO:0016820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v0.39 NF1 Sangavi Sivagnanasundram reviewed gene: NF1: Rating: RED; Mode of pathogenicity: None; Publications: 20301288; Phenotypes: neurofibromatosis type 1 MONDO:0018975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.39 MYH11 Sangavi Sivagnanasundram reviewed gene: MYH11: Rating: RED; Mode of pathogenicity: None; Publications: 32081817, 29263223, 27367753; Phenotypes: cerebrovascular disorder MONDO:0011057; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebral vascular malformations v0.39 MRVI1 Sangavi Sivagnanasundram reviewed gene: MRVI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Cerebral vascular malformations v0.39 HBB Sangavi Sivagnanasundram reviewed gene: HBB: Rating: RED; Mode of pathogenicity: None; Publications: 27301940; Phenotypes: sickle cell anemia MONDO:0011382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v0.39 FLVCR2 Sangavi Sivagnanasundram reviewed gene: FLVCR2: Rating: RED; Mode of pathogenicity: None; Publications: 4555262; Phenotypes: Fowler syndrome MONDO:0009168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v0.39 CEP152 Sangavi Sivagnanasundram reviewed gene: CEP152: Rating: RED; Mode of pathogenicity: None; Publications: 19338412; Phenotypes: Seckel syndrome MONDO:0019342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v0.39 ATR Sangavi Sivagnanasundram reviewed gene: ATR: Rating: RED; Mode of pathogenicity: None; Publications: 19338412; Phenotypes: Seckel syndrome 1 MONDO:0008869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v0.39 ADA2 Sangavi Sivagnanasundram reviewed gene: ADA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24552284; Phenotypes: vasculitis due to ADA2 deficiency MONDO:0014306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v0.39 COL3A1 Sangavi Sivagnanasundram reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28742248, 25205403, 19455184; Phenotypes: polymicrogyria with or without vascular-type Ehlers-Danlos syndrome MONDO:0032688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v0.39 EPHB4 Sangavi Sivagnanasundram reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 33864021, 27400125, 29444212; Phenotypes: EPHB4-associated vascular malformation spectrum MONDO:0700080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.39 ANO1 Sangavi Sivagnanasundram reviewed gene: ANO1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37253099; Phenotypes: Moyamoya disease 7 MONDO:0958202; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebral vascular malformations v0.39 YY1AP1 Sangavi Sivagnanasundram reviewed gene: YY1AP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9489789, 11241488, 31633303; Phenotypes: grange syndrome MONDO:0011243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v0.39 SMAD4 Sangavi Sivagnanasundram reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301525; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MONDO:0008278; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.39 SLC2A10 Sangavi Sivagnanasundram reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: 16550171, 17935213; Phenotypes: arterial tortuosity syndrome MONDO:0008818; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v0.39 SAMHD1 Sangavi Sivagnanasundram reviewed gene: SAMHD1: Rating: ; Mode of pathogenicity: None; Publications: 20653736, 21402907; Phenotypes: Moyamoya disease MONDO:0016820, Aicardi-Goutieres syndrome 5 MONDO:0013059; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v0.39 RASA1 Sangavi Sivagnanasundram reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21348050, 24038909; Phenotypes: Capillary Malformation-Arteriovenous Malformation Syndrome MONDO:0012016; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.39 PDCD10 Sangavi Sivagnanasundram changed review comment from: CCM is a feature in affected individuals; to: CCM is a feature in affected individuals.
Cerebral vascular malformations v0.39 PDCD10 Sangavi Sivagnanasundram reviewed gene: PDCD10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301470; Phenotypes: Familial cerebral cavernous malformations MONDO:0031037; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.39 GUCY1A3 Sangavi Sivagnanasundram reviewed gene: GUCY1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24581742, 26777256; Phenotypes: Moyamoya disease with early-onset achalasia MONDO:0014331; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v0.39 ENG Sangavi Sivagnanasundram reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: 7894484, 20414677, 30763665, 17384219, 20364125; Phenotypes: telangiectasia, hereditary hemorrhagic, type 1 MONDO:0008535; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.39 CCM2 Sangavi Sivagnanasundram reviewed gene: CCM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301470; Phenotypes: famililal cerebral cavernous malformations MONDO:0031037; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.39 ACVRL1 Sangavi Sivagnanasundram reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 86402252, 17384219, 26176610, 9245985 20364125, 20414677; Phenotypes: telangiectasia, hereditary hemorrhagic, type 2 MONDO:0010880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.39 ACTA2 Sangavi Sivagnanasundram reviewed gene: ACTA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19409525, 24621862, 20970362; Phenotypes: Moyamoya disease 5 MONDO:0013542; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.39 BRCC3 Zornitza Stark Marked gene: BRCC3 as ready
Cerebral vascular malformations v0.39 BRCC3 Zornitza Stark Gene: brcc3 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.39 BRCC3 Zornitza Stark Publications for gene: BRCC3 were set to 21596366
Cerebral vascular malformations v0.38 BRCC3 Zornitza Stark changed review comment from: PMID 21596366: three unrelated families with multiple affected males segregating a deletion involving MTCP1 and BRCC3. Positional approach used. Supportive zebrafish model, knockdown of BRCC3; angiogenesis affected.

PMID 33868155, additional report of affected male, with similar deletion.; to: PMID 21596366: three unrelated families with multiple affected males segregating a deletion involving MTCP1 and BRCC3. Positional approach used. Supportive zebrafish model, knockdown of BRCC3; angiogenesis affected.

PMID 33868155, additional report of affected male, with similar deletion.

No reports of SNVs identified, including in ClinVar.
Cerebral vascular malformations v0.38 BRCC3 Zornitza Stark edited their review of gene: BRCC3: Changed rating: RED
Cerebral vascular malformations v0.38 BRCC3 Zornitza Stark reviewed gene: BRCC3: Rating: ; Mode of pathogenicity: None; Publications: 21596366, 33868155; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cerebral vascular malformations v0.38 ANO1 Zornitza Stark Phenotypes for gene: ANO1 were changed from Moyamoya disease, MONDO:0016820, ANO1 related to Moyamoya disease 7, MIM# 620687
Cerebral vascular malformations v0.37 ANO1 Zornitza Stark reviewed gene: ANO1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Moyamoya disease 7, MIM# 620687; Mode of inheritance: None
Cerebral vascular malformations v0.37 RNF213 Zornitza Stark Marked gene: RNF213 as ready
Cerebral vascular malformations v0.37 RNF213 Zornitza Stark Gene: rnf213 has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.37 RNF213 Zornitza Stark Phenotypes for gene: RNF213 were changed from {Moyamoya disease 2, susceptibility to} to susceptibility to Moyamoya disease 2, (MIM# 607151)
Cerebral vascular malformations v0.36 RNF213 Zornitza Stark Publications for gene: RNF213 were set to 21048783
Cerebral vascular malformations v0.35 RNF213 Zornitza Stark Mode of inheritance for gene: RNF213 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.34 ANO1 Seb Lunke changed review comment from: Comment on list classification: This paper that indicates a predisposition, with both functional data and segregation data somewhat conflicting. Keep at amber for now as clear causality (consistent with author views) remains to be established.; to: Comment on list classification: This paper indicates a predisposition, with both functional data and segregation data somewhat conflicting. Keep at amber for now as clear causality (consistent with author views) remains to be established.
Cerebral vascular malformations v0.34 ANO1 Seb Lunke Marked gene: ANO1 as ready
Cerebral vascular malformations v0.34 ANO1 Seb Lunke Gene: ano1 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v0.34 ANO1 Seb Lunke Phenotypes for gene: ANO1 were changed from moyamoya; cerebral arteriopathy to Moyamoya disease, MONDO:0016820, ANO1 related
Cerebral vascular malformations v0.33 ANO1 Seb Lunke Classified gene: ANO1 as Amber List (moderate evidence)
Cerebral vascular malformations v0.33 ANO1 Seb Lunke Added comment: Comment on list classification: This paper that indicates a predisposition, with both functional data and segregation data somewhat conflicting. Keep at amber for now as clear causality (consistent with author views) remains to be established.
Cerebral vascular malformations v0.33 ANO1 Seb Lunke Gene: ano1 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v0.32 ANO1 Suliman Khan gene: ANO1 was added
gene: ANO1 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: ANO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANO1 were set to PMID: 37253099
Phenotypes for gene: ANO1 were set to moyamoya; cerebral arteriopathy
Review for gene: ANO1 was set to GREEN
Added comment: PMID: 37253099: screening analysis of Moyamoya disease (MMD) cohort revealed 8 patients with variants in the ANO1 gene. Two families had the same rare variant p.Met658Val in ANO1 gene. The ANO1 rare variants were assessed using patch-clamp recordings, and the majority of variants, including ANO1 p.Met658Val, displayed increased sensitivity to intracellular Ca2+. Patients harboring these gain-of-function ANO1 variants had classic features of MMD, but also had aneurysm, stenosis, and/or occlusion in the posterior circulation.
Sources: Literature
Cerebral vascular malformations v0.32 Zornitza Stark List of related panels changed from to Abnormal cerebral vascular morphology HP:0100659
Cerebral vascular malformations v0.31 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Cerebral vascular malformations v0.31 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.31 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from {Hemorrhage, intracerebral, susceptibility to}, 614519; Brain small vessel disease with or without ocular anomalies; Brain Small Vessel Disease with Hemorrhage; {Hemorrhage, intracerebral, susceptibility to} to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773; Brain small vessel disease with or without ocular anomalies, MIM# 175780
Cerebral vascular malformations v0.30 COL4A1 Zornitza Stark Publications for gene: COL4A1 were set to
Cerebral vascular malformations v0.29 COL4A1 Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.28 COL4A1 Zornitza Stark Classified gene: COL4A1 as Green List (high evidence)
Cerebral vascular malformations v0.28 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.27 COL4A1 Zornitza Stark reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773, Brain small vessel disease with or without ocular anomalies, MIM# 175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.27 COL4A1 Nicola Fearn reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27794444, PMID 25719457, OMIM 120130; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.27 PIK3CA Zornitza Stark Marked gene: PIK3CA as ready
Cerebral vascular malformations v0.27 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.27 PIK3CA Zornitza Stark Phenotypes for gene: PIK3CA were changed from Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Cerebral Malformation Disorders to Cerebral cavernous malformations 4, MIM#619538
Cerebral vascular malformations v0.26 PIK3CA Zornitza Stark Publications for gene: PIK3CA were set to
Cerebral vascular malformations v0.25 PIK3CA Zornitza Stark Mode of inheritance for gene: PIK3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.24 PIK3CA Zornitza Stark Classified gene: PIK3CA as Green List (high evidence)
Cerebral vascular malformations v0.24 PIK3CA Zornitza Stark Gene: pik3ca has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.23 PIK3CA Zornitza Stark Tag somatic tag was added to gene: PIK3CA.
Cerebral vascular malformations v0.23 PIK3CA Zornitza Stark reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: None; Publications: 34496175; Phenotypes: Cerebral cavernous malformations 4, MIM#619538; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.23 SETD5 Bryony Thompson Classified gene: SETD5 as Amber List (moderate evidence)
Cerebral vascular malformations v0.23 SETD5 Bryony Thompson Gene: setd5 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v0.22 CHD4 Bryony Thompson Classified gene: CHD4 as Amber List (moderate evidence)
Cerebral vascular malformations v0.22 CHD4 Bryony Thompson Gene: chd4 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v0.21 ABCC6 Bryony Thompson Marked gene: ABCC6 as ready
Cerebral vascular malformations v0.21 ABCC6 Bryony Thompson Gene: abcc6 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.21 ABCC6 Bryony Thompson reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: None; Publications: 16086762; Phenotypes: Moya moya disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v0.21 CBL Zornitza Stark Marked gene: CBL as ready
Cerebral vascular malformations v0.21 CBL Zornitza Stark Gene: cbl has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.21 CBL Zornitza Stark Publications for gene: CBL were set to 25283271; 28343148
Cerebral vascular malformations v0.20 CBL Zornitza Stark Classified gene: CBL as Green List (high evidence)
Cerebral vascular malformations v0.20 CBL Zornitza Stark Gene: cbl has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.19 CBL Natasha Brown reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28343148, 25283271, 28589114; Phenotypes: moyamoya, cerebral arteriopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.19 PDGFRB Zornitza Stark Marked gene: PDGFRB as ready
Cerebral vascular malformations v0.19 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.19 PDGFRB Zornitza Stark Classified gene: PDGFRB as Green List (high evidence)
Cerebral vascular malformations v0.19 PDGFRB Zornitza Stark Gene: pdgfrb has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.18 PDGFRB Zornitza Stark Tag somatic tag was added to gene: PDGFRB.
Cerebral vascular malformations v0.18 PDGFRB Natasha Brown gene: PDGFRB was added
gene: PDGFRB was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDGFRB were set to aneurysm; scoliosis; atrophic skin; stroke; infantile myofibromatosis
Mode of pathogenicity for gene: PDGFRB was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: PDGFRB was set to GREEN
Added comment: PMID: 33683022 describes 2 new cases of somatic mosaic variants in this gene with connective tissue/Marfanoid/progeriod phenotypes plus overgrowth (multiple aneurysms, varicosities, increased skin elasticity, pulmonary cysts), the same missense variant present in both patients in tissue (PDGFRB (NM_002609.3) c.1685A > G, p.(Tyr562Cys)).
PMID: 32291752 Three unrelated cases with heterozygous activating germline variants reviewed with similar phenotypes to above including early onset stroke/aneurysm.
Sources: Literature
Cerebral vascular malformations v0.17 ANGPTL6 Zornitza Stark Marked gene: ANGPTL6 as ready
Cerebral vascular malformations v0.17 ANGPTL6 Zornitza Stark Gene: angptl6 has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.17 ANGPTL6 Zornitza Stark Classified gene: ANGPTL6 as Green List (high evidence)
Cerebral vascular malformations v0.17 ANGPTL6 Zornitza Stark Gene: angptl6 has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.16 ANGPTL6 Zornitza Stark gene: ANGPTL6 was added
gene: ANGPTL6 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: ANGPTL6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANGPTL6 were set to 29304371; 33106390
Phenotypes for gene: ANGPTL6 were set to Cerebral aneurysm
Review for gene: ANGPTL6 was set to GREEN
Added comment: Six unrelated families reported.
Sources: Literature
Cerebral vascular malformations v0.15 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Cerebral vascular malformations v0.14 CHD4 Zornitza Stark Marked gene: CHD4 as ready
Cerebral vascular malformations v0.14 CHD4 Zornitza Stark Gene: chd4 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.14 CHD4 Zornitza Stark Phenotypes for gene: CHD4 were changed from Moya Moya; intellectual disability to Moya Moya; Sifrim-Hitz-Weiss syndrome, MIM# 617159
Cerebral vascular malformations v0.13 SETD5 Zornitza Stark Marked gene: SETD5 as ready
Cerebral vascular malformations v0.13 SETD5 Zornitza Stark Gene: setd5 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.13 SETD5 Zornitza Stark Phenotypes for gene: SETD5 were changed from Moya Moya; intellectual disability to Moya Moya; Mental retardation, autosomal dominant 23, MIM# 615761
Cerebral vascular malformations v0.12 CNOT3 Zornitza Stark Phenotypes for gene: CNOT3 were changed from Moya Moya; iIntellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672 to Moya Moya; Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672
Cerebral vascular malformations v0.11 CNOT3 Zornitza Stark Marked gene: CNOT3 as ready
Cerebral vascular malformations v0.11 CNOT3 Zornitza Stark Gene: cnot3 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v0.11 CNOT3 Zornitza Stark Phenotypes for gene: CNOT3 were changed from Moya Moya; intellectual disability to Moya Moya; iIntellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672
Cerebral vascular malformations v0.10 CHD4 Sue White gene: CHD4 was added
gene: CHD4 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD4 were set to 31474762
Phenotypes for gene: CHD4 were set to Moya Moya; intellectual disability
Penetrance for gene: CHD4 were set to Incomplete
Review for gene: CHD4 was set to RED
Added comment: 5 individuals reported with Moya Moya and ID, but only in one was de novo inheritance confirmed. 4 missense variants and one canonical splice.
Sources: Literature
Cerebral vascular malformations v0.9 SETD5 Sue White gene: SETD5 was added
gene: SETD5 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SETD5 were set to 31474762
Phenotypes for gene: SETD5 were set to Moya Moya; intellectual disability
Penetrance for gene: SETD5 were set to Complete
Review for gene: SETD5 was set to RED
Added comment: single family reported with de novo SETD5 frameshift in a child with ID and Moya Moya. 2 other families with novel missense and concordant phenotypes but no parental segregation performed.
Sources: Literature
Cerebral vascular malformations v0.8 CNOT3 Sue White Classified gene: CNOT3 as Amber List (moderate evidence)
Cerebral vascular malformations v0.8 CNOT3 Sue White Gene: cnot3 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v0.7 CNOT3 Sue White gene: CNOT3 was added
gene: CNOT3 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: CNOT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNOT3 were set to 31474762
Phenotypes for gene: CNOT3 were set to Moya Moya; intellectual disability
Penetrance for gene: CNOT3 were set to Complete
Review for gene: CNOT3 was set to AMBER
Added comment: 2 families with de novo variants (one nonsense and one missense) in individuals with ID and Moya Moya
Sources: Literature
Cerebral vascular malformations v0.6 RNF213 Daniel Flanagan reviewed gene: RNF213: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28635953; Phenotypes: susceptibility to Moyamoya disease 2, (MIM# 607151); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cerebral vascular malformations v0.6 KRIT1 Zornitza Stark Marked gene: KRIT1 as ready
Cerebral vascular malformations v0.6 KRIT1 Zornitza Stark Gene: krit1 has been classified as Green List (High Evidence).
Cerebral vascular malformations v0.6 KRIT1 Zornitza Stark Phenotypes for gene: KRIT1 were changed from Cerebral cavernous malformations 1; Cerebral cavernous malformations-1, 116860; Cerebral Cavernous Malformations; Cerebral Cavernous Malformation; Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas; Familial Cerebral Cavernous Malformation; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 to Cavernous malformations of CNS and retina, 116860; Cerebral cavernous malformations-1, 116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860
Cerebral vascular malformations v0.5 KRIT1 Zornitza Stark Tag founder tag was added to gene: KRIT1.
Cerebral vascular malformations v0.5 KRIT1 Zornitza Stark Mode of inheritance for gene: KRIT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.4 KRIT1 Zornitza Stark reviewed gene: KRIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16571644, 29593473; Phenotypes: Cavernous malformations of CNS and retina, 116860, Cerebral cavernous malformations-1, 116860, Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.4 GDF2 Zornitza Stark Marked gene: GDF2 as ready
Cerebral vascular malformations v0.4 GDF2 Zornitza Stark Gene: gdf2 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.4 GDF2 Zornitza Stark Phenotypes for gene: GDF2 were changed from to Telangiectasia, hereditary hemorrhagic, type 5, MIM# 615506
Cerebral vascular malformations v0.3 GDF2 Zornitza Stark Publications for gene: GDF2 were set to
Cerebral vascular malformations v0.2 GDF2 Zornitza Stark Classified gene: GDF2 as Red List (low evidence)
Cerebral vascular malformations v0.2 GDF2 Zornitza Stark Gene: gdf2 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v0.1 GDF2 Zornitza Stark reviewed gene: GDF2: Rating: RED; Mode of pathogenicity: None; Publications: 23972370; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5, MIM# 615506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Cerebral vascular malformations v0.0 WDR62 Zornitza Stark gene: WDR62 was added
gene: WDR62 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: WDR62 was set to
Phenotypes for gene: WDR62 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 VLDLR Zornitza Stark gene: VLDLR was added
gene: VLDLR was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: VLDLR was set to
Phenotypes for gene: VLDLR were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 TUBG1 Zornitza Stark gene: TUBG1 was added
gene: TUBG1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TUBG1 was set to
Phenotypes for gene: TUBG1 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 TUBB3 Zornitza Stark gene: TUBB3 was added
gene: TUBB3 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TUBB3 was set to
Phenotypes for gene: TUBB3 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 TUBB2B Zornitza Stark gene: TUBB2B was added
gene: TUBB2B was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TUBB2B was set to
Phenotypes for gene: TUBB2B were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 TUBB2A Zornitza Stark gene: TUBB2A was added
gene: TUBB2A was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TUBB2A was set to
Phenotypes for gene: TUBB2A were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 TUBB Zornitza Stark gene: TUBB was added
gene: TUBB was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TUBB was set to
Phenotypes for gene: TUBB were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 TUBA8 Zornitza Stark gene: TUBA8 was added
gene: TUBA8 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TUBA8 was set to
Phenotypes for gene: TUBA8 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 TUBA1A Zornitza Stark gene: TUBA1A was added
gene: TUBA1A was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TUBA1A was set to
Phenotypes for gene: TUBA1A were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 TRAIP Zornitza Stark gene: TRAIP was added
gene: TRAIP was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TRAIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAIP were set to 26595769
Phenotypes for gene: TRAIP were set to Seckel syndrome 9 616777
Cerebral vascular malformations v0.0 TMEM5 Zornitza Stark gene: TMEM5 was added
gene: TMEM5 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TMEM5 was set to
Phenotypes for gene: TMEM5 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 TGFBR2 Zornitza Stark gene: TGFBR2 was added
gene: TGFBR2 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome 2 610168
Cerebral vascular malformations v0.0 TGFBR1 Zornitza Stark gene: TGFBR1 was added
gene: TGFBR1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome 1 609192
Cerebral vascular malformations v0.0 TGFB2 Zornitza Stark gene: TGFB2 was added
gene: TGFB2 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4 614816
Cerebral vascular malformations v0.0 TEK Zornitza Stark gene: TEK was added
gene: TEK was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TEK were set to Venous malformations, multiple cutaneous and mucosal, 600195; Multiple Cutaneous and Mucosal Venous Malformations
Cerebral vascular malformations v0.0 STAMBP Zornitza Stark gene: STAMBP was added
gene: STAMBP was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAMBP were set to Microcephaly-capillary malformation syndrome, 614261; Microcephaly-capillary malformation syndrome
Cerebral vascular malformations v0.0 SRPX2 Zornitza Stark gene: SRPX2 was added
gene: SRPX2 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SRPX2 was set to
Phenotypes for gene: SRPX2 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 SMARCAL1 Zornitza Stark gene: SMARCAL1 was added
gene: SMARCAL1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMARCAL1 were set to 9674900
Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia 242900
Cerebral vascular malformations v0.0 SMAD3 Zornitza Stark gene: SMAD3 was added
gene: SMAD3 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD3 were set to Loeys-Dietz syndrome 3 613795
Cerebral vascular malformations v0.0 RTTN Zornitza Stark gene: RTTN was added
gene: RTTN was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: RTTN was set to
Phenotypes for gene: RTTN were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 RELN Zornitza Stark gene: RELN was added
gene: RELN was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: RELN was set to
Phenotypes for gene: RELN were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 RBBP8 Zornitza Stark gene: RBBP8 was added
gene: RBBP8 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBBP8 were set to 21998596
Phenotypes for gene: RBBP8 were set to Seckel syndrome 2 606744
Cerebral vascular malformations v0.0 PTEN Zornitza Stark gene: PTEN was added
gene: PTEN was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTEN were set to Bannayan-Riley-Ruvalcaba Syndrome
Cerebral vascular malformations v0.0 POMT2 Zornitza Stark gene: POMT2 was added
gene: POMT2 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: POMT2 was set to
Phenotypes for gene: POMT2 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 POMT1 Zornitza Stark gene: POMT1 was added
gene: POMT1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: POMT1 was set to
Phenotypes for gene: POMT1 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 POMGNT1 Zornitza Stark gene: POMGNT1 was added
gene: POMGNT1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: POMGNT1 was set to
Phenotypes for gene: POMGNT1 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 PIK3R2 Zornitza Stark gene: PIK3R2 was added
gene: PIK3R2 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PIK3R2 was set to
Phenotypes for gene: PIK3R2 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 PIK3CA Zornitza Stark gene: PIK3CA was added
gene: PIK3CA was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PIK3CA was set to
Phenotypes for gene: PIK3CA were set to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 PAFAH1B1 Zornitza Stark gene: PAFAH1B1 was added
gene: PAFAH1B1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PAFAH1B1 was set to
Phenotypes for gene: PAFAH1B1 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 OPHN1 Zornitza Stark gene: OPHN1 was added
gene: OPHN1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: OPHN1 was set to
Phenotypes for gene: OPHN1 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 OCLN Zornitza Stark gene: OCLN was added
gene: OCLN was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: OCLN was set to
Phenotypes for gene: OCLN were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 NOTCH3 Zornitza Stark gene: NOTCH3 was added
gene: NOTCH3 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NOTCH3 were set to 20301673; 8878478
Phenotypes for gene: NOTCH3 were set to Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy (CADASIL); Moyamoya disease; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy; Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Mode of pathogenicity for gene: NOTCH3 was set to Other - please provide details in the comments
Cerebral vascular malformations v0.0 NIN Zornitza Stark gene: NIN was added
gene: NIN was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NIN were set to 22933543
Phenotypes for gene: NIN were set to Seckel syndrome 7 614851
Cerebral vascular malformations v0.0 NDE1 Zornitza Stark gene: NDE1 was added
gene: NDE1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NDE1 was set to
Phenotypes for gene: NDE1 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 MEF2C Zornitza Stark gene: MEF2C was added
gene: MEF2C was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MEF2C were set to Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations; Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443
Cerebral vascular malformations v0.0 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: LARGE1 was set to
Phenotypes for gene: LARGE1 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 LAMC3 Zornitza Stark gene: LAMC3 was added
gene: LAMC3 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: LAMC3 was set to
Phenotypes for gene: LAMC3 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 LAMB1 Zornitza Stark gene: LAMB1 was added
gene: LAMB1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: LAMB1 was set to
Phenotypes for gene: LAMB1 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 KDR Zornitza Stark gene: KDR was added
gene: KDR was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: KDR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KDR were set to Hemangioma, capillary infantile, somatic; Hemangioma, capillary infantile, somatic, 602089; {Hemangioma, capillary infantile, susceptibility to}, 602089; {Hemangioma, capillary infantile, susceptibility to}
Cerebral vascular malformations v0.0 JAG1 Zornitza Stark gene: JAG1 was added
gene: JAG1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAG1 were set to 22759690
Phenotypes for gene: JAG1 were set to Alagille syndrome 1, 118450; Moyamoya disease
Cerebral vascular malformations v0.0 IL6 Zornitza Stark gene: IL6 was added
gene: IL6 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: IL6 was set to
Phenotypes for gene: IL6 were set to {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}
Cerebral vascular malformations v0.0 HTRA1 Zornitza Stark gene: HTRA1 was added
gene: HTRA1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HTRA1 was set to Unknown
Phenotypes for gene: HTRA1 were set to Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779; Moyamoya disease
Cerebral vascular malformations v0.0 HLA-DRB1 Zornitza Stark gene: HLA-DRB1 was added
gene: HLA-DRB1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HLA-DRB1 was set to Unknown
Publications for gene: HLA-DRB1 were set to PMID: 7886716; 21349441
Phenotypes for gene: HLA-DRB1 were set to Moyamoya disease
Cerebral vascular malformations v0.0 HLA-DQB1 Zornitza Stark gene: HLA-DQB1 was added
gene: HLA-DQB1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HLA-DQB1 was set to Unknown
Publications for gene: HLA-DQB1 were set to PMID: 21349441; 9409445
Phenotypes for gene: HLA-DQB1 were set to Moyamoya disease
Cerebral vascular malformations v0.0 HLA-B Zornitza Stark gene: HLA-B was added
gene: HLA-B was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HLA-B was set to Unknown
Publications for gene: HLA-B were set to 14676447; PMID: 21349441
Phenotypes for gene: HLA-B were set to Moyamoya disease
Cerebral vascular malformations v0.0 GNAQ Zornitza Stark gene: GNAQ was added
gene: GNAQ was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GNAQ was set to
Phenotypes for gene: GNAQ were set to Cerebral diseases of vascular origin with epilepsy; Capillary malformations, congenital, 1, somatic, mosaic, 163000
Cerebral vascular malformations v0.0 GLMN Zornitza Stark gene: GLMN was added
gene: GLMN was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLMN were set to Glomuvenous Malformation; Glomuvenous malformations
Cerebral vascular malformations v0.0 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GLA was set to Unknown
Phenotypes for gene: GLA were set to Moyamoya disease
Cerebral vascular malformations v0.0 FOXF1 Zornitza Stark gene: FOXF1 was added
gene: FOXF1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380; Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
Cerebral vascular malformations v0.0 FLT4 Zornitza Stark gene: FLT4 was added
gene: FLT4 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FLT4 was set to
Phenotypes for gene: FLT4 were set to Hemangioma, capillary infantile, somatic; Hemangioma, capillary infantile, somatic, 602089
Cerebral vascular malformations v0.0 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBN1 were set to Marfan syndrome 154700
Cerebral vascular malformations v0.0 ELN Zornitza Stark gene: ELN was added
gene: ELN was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ELN were set to 8460548
Phenotypes for gene: ELN were set to Moyamoya disease; Aneurysm, intracranial berry, 1 105800
Cerebral vascular malformations v0.0 DNA2 Zornitza Stark gene: DNA2 was added
gene: DNA2 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNA2 were set to 24389050
Phenotypes for gene: DNA2 were set to Seckel syndrome 8 615807
Cerebral vascular malformations v0.0 DCX Zornitza Stark gene: DCX was added
gene: DCX was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: DCX was set to
Phenotypes for gene: DCX were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 CTSA Zornitza Stark gene: CTSA was added
gene: CTSA was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CTSA was set to Unknown
Cerebral vascular malformations v0.0 CRB1 Zornitza Stark gene: CRB1 was added
gene: CRB1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CRB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRB1 were set to Pigmented Paravenous Chorioretinal Atrophy
Cerebral vascular malformations v0.0 COL4A2 Zornitza Stark gene: COL4A2 was added
gene: COL4A2 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: COL4A2 was set to
Phenotypes for gene: COL4A2 were set to {Hemorrhage, intracerebral, susceptibility to}, 614519; {Hemorrhage, intracerebral, susceptibility to}
Cerebral vascular malformations v0.0 COL4A1 Zornitza Stark gene: COL4A1 was added
gene: COL4A1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL4A1 were set to {Hemorrhage, intracerebral, susceptibility to}, 614519; Brain small vessel disease with or without ocular anomalies; Brain Small Vessel Disease with Hemorrhage; {Hemorrhage, intracerebral, susceptibility to}
Cerebral vascular malformations v0.0 CEP63 Zornitza Stark gene: CEP63 was added
gene: CEP63 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CEP63 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP63 were set to 21983783
Phenotypes for gene: CEP63 were set to Seckel syndrome 6 614728
Cerebral vascular malformations v0.0 CENPJ Zornitza Stark gene: CENPJ was added
gene: CENPJ was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CENPJ were set to Seckel syndrome 4 613676
Cerebral vascular malformations v0.0 BRCC3 Zornitza Stark gene: BRCC3 was added
gene: BRCC3 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: BRCC3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: BRCC3 were set to 21596366
Phenotypes for gene: BRCC3 were set to Moyamoya disease
Cerebral vascular malformations v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ATP7A were set to Moyamoya disease
Cerebral vascular malformations v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ARX was set to
Phenotypes for gene: ARX were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 ANTXR1 Zornitza Stark gene: ANTXR1 was added
gene: ANTXR1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ANTXR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ANTXR1 were set to {Hemangioma, capillary infantile, susceptibility to}, 602089; {Hemangioma, capillary infantile, susceptibility to}
Cerebral vascular malformations v0.0 ADGRG1 Zornitza Stark gene: ADGRG1 was added
gene: ADGRG1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ADGRG1 was set to
Phenotypes for gene: ADGRG1 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 ACE Zornitza Stark gene: ACE was added
gene: ACE was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ACE was set to
Phenotypes for gene: ACE were set to {Stroke, hemorrhagic}
Cerebral vascular malformations v0.0 ABCC6 Zornitza Stark gene: ABCC6 was added
gene: ABCC6 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ABCC6 was set to Unknown
Phenotypes for gene: ABCC6 were set to Moyamoya disease
Cerebral vascular malformations v0.0 THSD1 Zornitza Stark gene: THSD1 was added
gene: THSD1 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: THSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: THSD1 were set to 27895300
Phenotypes for gene: THSD1 were set to subarachnoid hemorrhage
Cerebral vascular malformations v0.0 SMAD9 Zornitza Stark gene: SMAD9 was added
gene: SMAD9 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebral vascular malformations v0.0 PKD2 Zornitza Stark gene: PKD2 was added
gene: PKD2 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PKD2 were set to Polycystic kidney disease 2 613095
Cerebral vascular malformations v0.0 PKD1 Zornitza Stark gene: PKD1 was added
gene: PKD1 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PKD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PKD1 were set to Polycystic kidney disease, adult type I 173900
Cerebral vascular malformations v0.0 PCNT Zornitza Stark gene: PCNT was added
gene: PCNT was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCNT were set to 15368497
Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II 210720; Moyamoya disease
Cerebral vascular malformations v0.0 NF1 Zornitza Stark gene: NF1 was added
gene: NF1 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NF1 were set to 10754001
Phenotypes for gene: NF1 were set to Moyamoya disease; Neurofibromatosis, type 1 162200
Cerebral vascular malformations v0.0 MYH11 Zornitza Stark gene: MYH11 was added
gene: MYH11 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH11 were set to 16444274; 29263223
Phenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4, 132900; moyamoya-like angiopath
Cerebral vascular malformations v0.0 MRVI1 Zornitza Stark gene: MRVI1 was added
gene: MRVI1 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MRVI1 was set to Unknown
Cerebral vascular malformations v0.0 HBB Zornitza Stark gene: HBB was added
gene: HBB was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HBB were set to 20301551
Phenotypes for gene: HBB were set to Sickle cell anemia 603903
Cerebral vascular malformations v0.0 GDF2 Zornitza Stark gene: GDF2 was added
gene: GDF2 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.0 FLVCR2 Zornitza Stark gene: FLVCR2 was added
gene: FLVCR2 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLVCR2 were set to 20206334
Phenotypes for gene: FLVCR2 were set to Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Cerebral vascular malformations v0.0 EPHB4 Zornitza Stark gene: EPHB4 was added
gene: EPHB4 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation 2, 618196
Cerebral vascular malformations v0.0 CEP152 Zornitza Stark gene: CEP152 was added
gene: CEP152 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP152 were set to 21131973
Phenotypes for gene: CEP152 were set to Seckel syndrome 5 613823
Cerebral vascular malformations v0.0 CBL Zornitza Stark gene: CBL was added
gene: CBL was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CBL were set to 25283271; 28343148
Phenotypes for gene: CBL were set to early-onset moyamoya angiopathy; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563
Mode of pathogenicity for gene: CBL was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cerebral vascular malformations v0.0 ATR Zornitza Stark gene: ATR was added
gene: ATR was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATR were set to 12640452
Phenotypes for gene: ATR were set to Seckel syndrome 1 210600
Cerebral vascular malformations v0.0 ADA2 Zornitza Stark gene: ADA2 was added
gene: ADA2 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADA2 were set to 3471198, 25528372
Phenotypes for gene: ADA2 were set to Sneddon syndrome 182410; Polyarteritis nodosa
Cerebral vascular malformations v0.0 YY1AP1 Zornitza Stark gene: YY1AP1 was added
gene: YY1AP1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: YY1AP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: YY1AP1 were set to Grange syndrome, 602531
Cerebral vascular malformations v0.0 SMAD4 Zornitza Stark gene: SMAD4 was added
gene: SMAD4 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050
Cerebral vascular malformations v0.0 SLC2A10 Zornitza Stark gene: SLC2A10 was added
gene: SLC2A10 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC2A10 were set to 16550171
Phenotypes for gene: SLC2A10 were set to 208050; Moyamoya disease; Arterial tortuosity syndrome
Cerebral vascular malformations v0.0 SAMHD1 Zornitza Stark gene: SAMHD1 was added
gene: SAMHD1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAMHD1 were set to 20653736; 21402907
Phenotypes for gene: SAMHD1 were set to Moyamoya disease
Cerebral vascular malformations v0.0 RNF213 Zornitza Stark gene: RNF213 was added
gene: RNF213 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RNF213 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RNF213 were set to 21048783
Phenotypes for gene: RNF213 were set to {Moyamoya disease 2, susceptibility to}
Cerebral vascular malformations v0.0 RASA1 Zornitza Stark gene: RASA1 was added
gene: RASA1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RASA1 were set to 14639529
Phenotypes for gene: RASA1 were set to Parkes Weber syndrome; Capillary malformation-arteriovenous malformation, 608354; Parkes Weber Syndrome; Parkes Weber syndrome (PKWS); Parkes Weber syndrome, 608355; Capillary Malformation-Arteriovenous Malformation Syndrome
Cerebral vascular malformations v0.0 PDCD10 Zornitza Stark gene: PDCD10 was added
gene: PDCD10 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PDCD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PDCD10 were set to 15543491; 20301470
Phenotypes for gene: PDCD10 were set to Cerebral Cavernous Malformations; Cerebral cavernous malformations 3; Cerebral cavernous malformations 3, 603285; Cerebral Cavernous Malformation; Familial Cerebral Cavernous Malformation
Mode of pathogenicity for gene: PDCD10 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cerebral vascular malformations v0.0 KRIT1 Zornitza Stark gene: KRIT1 was added
gene: KRIT1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KRIT1 were set to 10508515; 20301470
Phenotypes for gene: KRIT1 were set to Cerebral cavernous malformations 1; Cerebral cavernous malformations-1, 116860; Cerebral Cavernous Malformations; Cerebral Cavernous Malformation; Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas; Familial Cerebral Cavernous Malformation; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860
Cerebral vascular malformations v0.0 GUCY1A3 Zornitza Stark gene: GUCY1A3 was added
gene: GUCY1A3 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GUCY1A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUCY1A3 were set to 24581742; 26777256
Phenotypes for gene: GUCY1A3 were set to Moyamoya 6 with achalasia; Moyamoya 6 with achalasia, 615750
Cerebral vascular malformations v0.0 ENG Zornitza Stark gene: ENG was added
gene: ENG was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ENG were set to 15024723; 20301525
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 187300
Cerebral vascular malformations v0.0 COL3A1 Zornitza Stark gene: COL3A1 was added
gene: COL3A1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, type IV 130050
Cerebral vascular malformations v0.0 CCM2 Zornitza Stark gene: CCM2 was added
gene: CCM2 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCM2 were set to 14624391; 20301470
Phenotypes for gene: CCM2 were set to Cerebral cavernous malformations 2; Cerebral Cavernous Malformation; Capillary malformation-arteriovenous malformation 608354; Cerebral Cavernous Malformations
Cerebral vascular malformations v0.0 ACVRL1 Zornitza Stark gene: ACVRL1 was added
gene: ACVRL1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 600376
Cerebral vascular malformations v0.0 ACTA2 Zornitza Stark gene: ACTA2 was added
gene: ACTA2 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTA2 were set to Multisystemic smooth muscle dysfunction syndrome,613834; Aortic aneurysm familial thoracic 6,611788; Moyamoya Disease; Moyamoya disease 5; Moyamoya disease 5,614042
Cerebral vascular malformations v0.0 Zornitza Stark Added panel Cerebral vascular malformations