Activity

Filter

Cancel
Date Panel Item Activity
891 actions
Cerebral vascular malformations v4.10 Achchuthan Shanmugasundram Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Cerebral vascular malformations v4.9 CBL Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: CBL.
Tag Q2_25_expert_review was removed from gene: CBL.
Tag Q2_25_ NHS_review was removed from gene: CBL.
Cerebral vascular malformations v4.9 ANO1 Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: ANO1.
Tag Q2_25_expert_review was removed from gene: ANO1.
Tag Q2_25_ NHS_review was removed from gene: ANO1.
Cerebral vascular malformations v4.9 CBL Achchuthan Shanmugasundram commented on gene: CBL: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Cerebral vascular malformations v4.9 ANO1 Achchuthan Shanmugasundram reviewed gene: ANO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cerebral vascular malformations v4.8 CBL Achchuthan Shanmugasundram Source Expert Review Green was added to CBL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cerebral vascular malformations v4.8 ANO1 Achchuthan Shanmugasundram Source NHS GMS was added to ANO1.
Source Expert Review Green was added to ANO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cerebral vascular malformations v4.7 ITGB1 Ida Ertmanska edited their review of gene: ITGB1: Changed mode of inheritance: Unknown
Cerebral vascular malformations v4.7 ITGB1 Ida Ertmanska edited their review of gene: ITGB1: Added comment: Comment on list classification: There are two patients reported in literature with Vein of Galen aneurysmal malformation and LoF variants in ITGB1 (presumed monoallelic but not specified). This gene should be rated Amber for Cerebral vascular malformations until more evidence is reported.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v4.7 ITGB1 Ida Ertmanska Phenotypes for gene: ITGB1 were changed from Vein of Galen Malformation to Vein of Galen aneurysmal malformation, HP:0030713
Cerebral vascular malformations v4.6 ITGB1 Ida Ertmanska Classified gene: ITGB1 as Amber List (moderate evidence)
Cerebral vascular malformations v4.6 ITGB1 Ida Ertmanska Gene: itgb1 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v4.5 ITGB1 Ida Ertmanska reviewed gene: ITGB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37978175; Phenotypes: Vein of Galen aneurysmal malformation, HP:0030713; Mode of inheritance: None
Cerebral vascular malformations v4.5 ANO1 Eleanor Williams Tag Q2_25_expert_review tag was added to gene: ANO1.
Cerebral vascular malformations v4.5 CBS Arina Puzriakova changed review comment from: Individuals with CBS variants are at higher of thromboembolic events such as peripheral vein thrombosis, pulmonary embolism, stroke, peripheral artery occlusion, and myocardial infarction. Cerebral sinovenous thrombosis can occur but could not find evidence of vascular malformations. Therefore this gene does not appear relevant to this panel and rating as Red.; to: Individuals with CBS variants are at higher risk of thromboembolic events such as peripheral vein thrombosis, pulmonary embolism, stroke, peripheral artery occlusion, and myocardial infarction. Cerebral sinovenous thrombosis can occur but could not find evidence of vascular malformations. Therefore this gene does not appear relevant to this panel and rating as Red.
Cerebral vascular malformations v4.5 CBS Arina Puzriakova Classified gene: CBS as Red List (low evidence)
Cerebral vascular malformations v4.5 CBS Arina Puzriakova Gene: cbs has been classified as Red List (Low Evidence).
Cerebral vascular malformations v4.4 CBS Arina Puzriakova commented on gene: CBS
Cerebral vascular malformations v4.4 ANO1 Eleanor Williams commented on gene: ANO1
Cerebral vascular malformations v4.4 CCER2 Achchuthan Shanmugasundram Classified gene: CCER2 as Amber List (moderate evidence)
Cerebral vascular malformations v4.4 CCER2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexandra Njegic, PMID:27717682 reported the identification of CCER2 variants in two pedigrees with Moyamoya disease. One of the monozygotic twins from family 2 with the missense variant was unaffected suggesting reduced penetrance.

Although CCER2 variants were identified in three of 135 MMD probands additionally sequenced, two of them had RNF213 p.Arg4810Lys founder variant, and one had Graves disease.

In silicon functional analysis predicts that these variants promote aggregation or oligomerization of their protein product.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.

This gene should be rated amber with current evidence.
Cerebral vascular malformations v4.4 CCER2 Achchuthan Shanmugasundram Gene: ccer2 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v4.3 CCER2 Achchuthan Shanmugasundram Phenotypes for gene: CCER2 were changed from Moyamoya Disease to Moyamoya Disease, MONDO:0016820
Cerebral vascular malformations v4.2 CCER2 Achchuthan Shanmugasundram reviewed gene: CCER2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27717682; Phenotypes: Moyamoya Disease, MONDO:0016820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebral vascular malformations v4.2 SIRT1 Arina Puzriakova Classified gene: SIRT1 as Red List (low evidence)
Cerebral vascular malformations v4.2 SIRT1 Arina Puzriakova Added comment: Comment on list classification: Rating Red as only a single case has been reported to date. Additional evidence is required before attributing causality.
Cerebral vascular malformations v4.2 SIRT1 Arina Puzriakova Gene: sirt1 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v4.1 Arina Puzriakova Panel version 4.0 has been signed off on 2025-04-30
Cerebral vascular malformations v4.0 Arina Puzriakova promoted panel to version 4.0
Cerebral vascular malformations v3.40 EVL Achchuthan Shanmugasundram Classified gene: EVL as Red List (low evidence)
Cerebral vascular malformations v3.40 EVL Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexandra Njegic and reported in PMID:34125151, there is one patient with Moyamoya disease identified with compound heterozygous variants in EVL gene. There are no other cases or functional work available.

This gene has not yet been reported with relevant phenotypes either in OMIM or in Gene2Phenotype.

Hence, this gene should be rated red with current evidence.
Cerebral vascular malformations v3.40 EVL Achchuthan Shanmugasundram Gene: evl has been classified as Red List (Low Evidence).
Cerebral vascular malformations v3.39 EVL Achchuthan Shanmugasundram Phenotypes for gene: EVL were changed from Moyamoya Disease to Moyamoya disease, MONDO:0016820
Cerebral vascular malformations v3.38 EVL Achchuthan Shanmugasundram reviewed gene: EVL: Rating: RED; Mode of pathogenicity: None; Publications: 34125151; Phenotypes: Moyamoya disease, MONDO:0016820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v3.38 KEL Achchuthan Shanmugasundram Classified gene: KEL as Amber List (moderate evidence)
Cerebral vascular malformations v3.38 KEL Achchuthan Shanmugasundram Gene: kel has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v3.37 KEL Achchuthan Shanmugasundram Phenotypes for gene: KEL were changed from Vein of Galen Malformation to vein of Galen aneurysm, MONDO:0015196
Cerebral vascular malformations v3.36 KEL Achchuthan Shanmugasundram reviewed gene: KEL: Rating: AMBER; Mode of pathogenicity: None; Publications: 30578106, 37978175; Phenotypes: vein of Galen aneurysm, MONDO:0015196; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebral vascular malformations v3.36 NOS3 Achchuthan Shanmugasundram Classified gene: NOS3 as Amber List (moderate evidence)
Cerebral vascular malformations v3.36 NOS3 Achchuthan Shanmugasundram Gene: nos3 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v3.35 NOS3 Achchuthan Shanmugasundram Tag watchlist tag was added to gene: NOS3.
Cerebral vascular malformations v3.35 NOS3 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed by Alexandra Njegic, 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.

Hence, the gene should be rated amber and the MOI should be set to BIALLELIC.

The 'watchlist' tag has been added to review this gene in light of new evidence.
Cerebral vascular malformations v3.35 NOS3 Achchuthan Shanmugasundram Mode of inheritance for gene: NOS3 was changed from Other to BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v3.34 NOS3 Achchuthan Shanmugasundram Publications for gene: NOS3 were set to 37383439; 36941667
Cerebral vascular malformations v3.33 NOS3 Achchuthan Shanmugasundram Phenotypes for gene: NOS3 were changed from Moyamoya Disease; Moyamoya Angiopathy to Moyamoya disease, MONDO:0016820
Cerebral vascular malformations v3.32 NOS3 Achchuthan Shanmugasundram reviewed gene: NOS3: Rating: AMBER; Mode of pathogenicity: None; Publications: 36941667, 37383439; Phenotypes: Moyamoya disease, MONDO:0016820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v3.32 CBL Achchuthan Shanmugasundram Phenotypes for gene: CBL were changed from early-onset moyamoya angiopathy; moyamoya disease, MONDO:0016820; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563 to cerebral arterial disease, MONDO:0006693; Moyamoya disease, MONDO:0016820; early-onset moyamoya angiopathy; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563
Cerebral vascular malformations v3.31 CBL Achchuthan Shanmugasundram Publications for gene: CBL were set to 28343148; 25283271; 28589114
Cerebral vascular malformations v3.30 CBL Achchuthan Shanmugasundram Mode of inheritance for gene: CBL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v3.29 CBL Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: CBL.
Tag Q2_25_expert_review tag was added to gene: CBL.
Tag Q2_25_ NHS_review tag was added to gene: CBL.
Cerebral vascular malformations v3.29 CBL Achchuthan Shanmugasundram Classified gene: CBL as Amber List (moderate evidence)
Cerebral vascular malformations v3.29 CBL Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexandra Njegic, there are five patients from three unrelated families reported with three different CBL variants and cerebral arteriopathy in PMID:32637631, and one patient was reported with the previously identified de novo splice variant in CBL gene in PMID:37778001. The patient from PMID:37778001 also had a maternally inherited VUS variant in RNF213 gene. This is also some functional evidence available.

There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update. However, it has been tagged for expert review from the GMS.
Cerebral vascular malformations v3.29 CBL Achchuthan Shanmugasundram Gene: cbl has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v3.28 CBL Achchuthan Shanmugasundram reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: None; Publications: 32637631, 37778001; Phenotypes: cerebral arterial disease, MONDO:0006693, Moyamoya disease, MONDO:0016820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v3.28 FOXM1 Achchuthan Shanmugasundram Classified gene: FOXM1 as Amber List (moderate evidence)
Cerebral vascular malformations v3.28 FOXM1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexandra Njegic, PMID:38969938 reported a 60-year-old father and 31-year-old daughter with unilateral Moyamoya Disease and with c.1205 C > A variant in FOXM1 gene (p.(Ala402Glu). There is also functional evidence available for the identified variant from the publication.

This gene should be rated amber with current evidence.
Cerebral vascular malformations v3.28 FOXM1 Achchuthan Shanmugasundram Gene: foxm1 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v3.27 FOXM1 Achchuthan Shanmugasundram Phenotypes for gene: FOXM1 were changed from Moyamoya Disease (Unilateral) to Moyamoya disease, MONDO:0016820
Cerebral vascular malformations v3.26 FOXM1 Achchuthan Shanmugasundram edited their review of gene: FOXM1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebral vascular malformations v3.26 FOXM1 Achchuthan Shanmugasundram reviewed gene: FOXM1: Rating: AMBER; Mode of pathogenicity: None; Publications: 38969938; Phenotypes: Moyamoya disease, MONDO:0016820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v3.26 CCER2 Alexandra Njegic gene: CCER2 was added
gene: CCER2 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: CCER2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCER2 were set to 27717682
Phenotypes for gene: CCER2 were set to Moyamoya Disease
Penetrance for gene: CCER2 were set to Incomplete
Mode of pathogenicity for gene: CCER2 was set to Other
Review for gene: CCER2 was set to AMBER
Added comment: 27717682: 2 pedigrees (without RNF213 variants), authors identified a delins and a missense variant (one twin unaffected with same missense variant, suggests reduced penetrance). Additional 135 MMD probands sequenced, identified 1 recurrent and an additional 2 in-frame indels (2 probands had RNF213 p.R4810K, and the other had Graves disease). In silico modelling predicts aggregation or oligomerization of CCER2 protein product; insufficient evidence to suggest LOF or GOF.
Sources: Literature
Cerebral vascular malformations v3.26 SIRT1 Alexandra Njegic gene: SIRT1 was added
gene: SIRT1 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: SIRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIRT1 were set to 30578106
Phenotypes for gene: SIRT1 were set to Vein of Galen Malformation
Penetrance for gene: SIRT1 were set to Incomplete
Review for gene: SIRT1 was set to RED
Added comment: 30578106: 1 family, authors identified 1 de novo frameshift SIRT1 variant in proband, proband also harboured a transmitted CLDN14 variant. Supplementary table suggests relatives have capillary malformations.
Sources: Literature
Cerebral vascular malformations v3.26 ITGB1 Alexandra Njegic gene: ITGB1 was added
gene: ITGB1 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: ITGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ITGB1 were set to 37978175
Phenotypes for gene: ITGB1 were set to Vein of Galen Malformation
Penetrance for gene: ITGB1 were set to Incomplete
Review for gene: ITGB1 was set to AMBER
Added comment: 37978175 (including PMID 30578106 cohort): combined 2 probands, 1 unphased frameshift and 1 transmitted splice variant, in silico modelling predicted NMD, pathogenicity given as 'likely damaging'.
Sources: Literature
Cerebral vascular malformations v3.26 KEL Alexandra Njegic 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, imprinted status unknown
Publications for gene: KEL were set to 30578106; 37978175
Phenotypes for gene: KEL were set to Vein of Galen Malformation
Penetrance for gene: KEL were set to unknown
Review for gene: KEL was set to AMBER
Added comment: 37978175, 30578106 (same cohort with additional VOGM probands in 37978175): 30578106; 2/55 VOGM probands with a de novo nonsense or missense variant in KEL, absent in unaffected parents and siblings. No in vitro or in vivo studies. Pathogenicity not provided.
37978175: No additional KEL variants.
Sources: Literature
Cerebral vascular malformations v3.26 CBL Alexandra Njegic reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: None; Publications: 32637631, 37778001; Phenotypes: Cerebral arteriopathy, Moyamoya Disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebral vascular malformations v3.26 DIAPH1 Sarah Leigh Tag watchlist tag was added to gene: DIAPH1.
Cerebral vascular malformations v3.26 DIAPH1 Sarah Leigh Publications for gene: DIAPH1 were set to 34125151; 37400591
Cerebral vascular malformations v3.25 DIAPH1 Sarah Leigh Deleted their comment
Cerebral vascular malformations v3.25 DIAPH1 Sarah Leigh edited their review of gene: DIAPH1: Added comment: Kundishora et al (PMID: 34125151) reports seven DIAPH1 variants in six patients from two cohorts containing a total of 108 patients with features of Moyamoya disease (MMD). The authors suggest that DIAPH1 variants may be associated with MMD risk gene and impaired vascular cell actin remodeling in MMD pathogenesis. In PMID: 37400591 the authors report that MMD patients with DIAPH1 variants were more likely to have posterior circulation involvement (7/9, 78%) than those without DIAPH1 variants (5/41, 12%). No variant functional studies were presented in these studies.; Changed rating: AMBER
Cerebral vascular malformations v3.25 DIAPH1 Sarah Leigh Added comment: Comment on publications: PMID: 37012328 is not relevant to this gene
Cerebral vascular malformations v3.25 DIAPH1 Sarah Leigh Publications for gene: DIAPH1 were set to 34125151; 37400591; 37012328
Cerebral vascular malformations v3.24 DIAPH1 Sarah Leigh Phenotypes for gene: DIAPH1 were changed from Moyamoya disease to Seizures, cortical blindness, microcephaly syndrome, OMIM:616632; progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, MONDO:0014714
Cerebral vascular malformations v3.23 DIAPH1 Sarah Leigh Classified gene: DIAPH1 as Amber List (moderate evidence)
Cerebral vascular malformations v3.23 DIAPH1 Sarah Leigh Gene: diaph1 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v3.22 ANO1 Sarah Leigh Tag Q2_25_ promote_green tag was added to gene: ANO1.
Tag Q2_25_ NHS_review tag was added to gene: ANO1.
Cerebral vascular malformations v3.22 ANO1 Sarah Leigh edited their review of gene: ANO1: Added comment: Three ANO1 variant have been associated with Moyamoya disease 7 (OMIM:620687) in three unrelated cases (PMID: 37253099). Two of the variants were heterozygous in the patients, while the third was homozygous. For each of the variants, electrophysiologic studies in variant transfected HEK293 cells revealed that the variant channel had an increased Ca(2+) sensitivity resulting in increased membrane Cl- conductance at lower intracellular Ca(2+) levels in comparison to the controls, which is consistent with a gain-of-function effect.; Changed rating: GREEN; Changed publications to: 37253099; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebral vascular malformations v3.22 ANO1 Sarah Leigh Added comment: Comment on publications: PMID: 37012328 was not relevant to this gene
Cerebral vascular malformations v3.22 ANO1 Sarah Leigh Publications for gene: ANO1 were set to 37253099
Cerebral vascular malformations v3.21 ANO1 Sarah Leigh Publications for gene: ANO1 were set to 37253099; 37012328
Cerebral vascular malformations v3.20 NOS3 Alexandra Njegic changed review comment from: Conflicting reports of mode of inheritance.
37383439: 1/6 Moyamoya disease patients with a NOS3 heterozygous variant, pathogenicity not provided.
36941667: 6 probands from consanguineous parentage with MMA, 2 NOS3 homozygous variants. In vitro studies, splice donor site variant leads to lack of eNOS in endothelial progenitor cells derived from the affected proband. Missense variant leads to reduced eNOS protein expression (HEK cells).
Sources: Literature; to: 2 papers with a different mode of inheritance shown; pathogenicity of AD variant not explored in detail.
37383439: 1/6 Moyamoya disease patients with a NOS3 heterozygous variant, pathogenicity not provided.
36941667: 6 probands from consanguineous parentage with MMA, 2 NOS3 homozygous variants. In vitro studies, splice donor site variant leads to lack of eNOS in endothelial progenitor cells derived from the affected proband. Missense variant leads to reduced eNOS protein expression (HEK cells).
Sources: Literature
Cerebral vascular malformations v3.20 ANO1 Sarah Leigh Phenotypes for gene: ANO1 were changed from Moyamoya disease 7, 620687 to Moyamoya disease 7, OMIM:620687; moyamoya disease 7, MONDO:0958202
Cerebral vascular malformations v3.19 ANO1 Sarah Leigh Classified gene: ANO1 as Amber List (moderate evidence)
Cerebral vascular malformations v3.19 ANO1 Sarah Leigh Gene: ano1 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v3.18 NOS3 Alexandra Njegic gene: NOS3 was added
gene: NOS3 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: NOS3 was set to Other
Publications for gene: NOS3 were set to 37383439; 36941667
Phenotypes for gene: NOS3 were set to Moyamoya Disease; Moyamoya Angiopathy
Penetrance for gene: NOS3 were set to unknown
Review for gene: NOS3 was set to AMBER
Added comment: Conflicting reports of mode of inheritance.
37383439: 1/6 Moyamoya disease patients with a NOS3 heterozygous variant, pathogenicity not provided.
36941667: 6 probands from consanguineous parentage with MMA, 2 NOS3 homozygous variants. In vitro studies, splice donor site variant leads to lack of eNOS in endothelial progenitor cells derived from the affected proband. Missense variant leads to reduced eNOS protein expression (HEK cells).
Sources: Literature
Cerebral vascular malformations v3.18 FOXM1 Alexandra Njegic 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, imprinted status unknown
Publications for gene: FOXM1 were set to 38969938
Phenotypes for gene: FOXM1 were set to Moyamoya Disease (Unilateral)
Penetrance for gene: FOXM1 were set to unknown
Review for gene: FOXM1 was set to AMBER
Added comment: 38969938: 1 family, affected father and daughter. In vitro studies with hCMEC/D3 cells overexpressing the variant showed reduced migration and tube formation and increased apoptosis proposed to be due to reduced BCL2 transcription.
Sources: Literature
Cerebral vascular malformations v3.18 EVL Alexandra Njegic gene: EVL was added
gene: EVL was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: EVL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EVL were set to 34125151
Phenotypes for gene: EVL were set to Moyamoya Disease
Penetrance for gene: EVL were set to unknown
Review for gene: EVL was set to RED
Added comment: 34125151: 1 proband with compound heterozygous ‘damaging’ missense variants in EVL, pathogenicity not reported.
No other reports in literature of EVL variants and MMD.
Sources: Literature
Cerebral vascular malformations v3.18 EPHB4 Alexandra Njegic reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 37978175, 30578106, 29444212, 39367533, 35852613; Phenotypes: Capillary malformation-arteriovenous malformation 2, 618196; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebral vascular malformations v3.18 DIAPH1 Alexandra Njegic gene: DIAPH1 was added
gene: DIAPH1 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DIAPH1 were set to 34125151; 37400591; 37012328
Phenotypes for gene: DIAPH1 were set to Moyamoya disease
Penetrance for gene: DIAPH1 were set to Incomplete
Mode of pathogenicity for gene: DIAPH1 was set to Other
Review for gene: DIAPH1 was set to AMBER
Added comment: 34125151: Authors suggest MMD risk gene, haploinsufficiency mechanism. Discovery cohort of patients with sporadic, bilateral MMD associated with transfusion dependent thrombocytopenia, found 3/24 variants (2 de novo, 1 transmitted); 4/84 further MMD validation cohort (2 unphased, 1 transmitted). In silico predictions only, no phenotyping of parents. No probands had deafness – AD truncating DIAPH1 associated with deafness 1 with or without thrombocytopenia OMIM: 124900 and AR truncating variants are associated with seizures, cortical blindness, microcephaly syndrome OMIM: 616632.
37400591: 2/50 missense variants (7 synonymous) in an Asian MMD population, authors suggest an association between DIAPH1 mutation and PCA involvement in MMD.
37012328: 3 patients with MMA, DIAPH1 variants identified through WES filtering, no evidence of pathogenicity provided.
Sources: Literature
Cerebral vascular malformations v3.18 ANO1 Alexandra Njegic gene: ANO1 was added
gene: ANO1 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: ANO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ANO1 were set to 37253099; 37012328
Phenotypes for gene: ANO1 were set to Moyamoya disease 7, 620687
Penetrance for gene: ANO1 were set to Incomplete
Mode of pathogenicity for gene: ANO1 was set to Other
Review for gene: ANO1 was set to AMBER
Added comment: 37253099: 6 families showed AD, 1 patient AR. GOF and LOF implied. 7 variants identified total from 84 unsolved families and additional 150 probands. In vitro modelling of different missense variants in HEK cells shows GOF and LOF mechanisms. GOF variants (p.Met658Val, p.Glu459Lys, p.Thr740Ile p.Glu170Lys) have increased membrane Cl− conductance at lower intracellular Ca2+ levels, determined through patch clamp. Predicted LOF p.Arg890Gln (in gnomAD) as no Ca2+ currents evoked. Some variants show no alteration to Ca2+ sensitivity (p.Arg77Gln [in gnomAD) and p.Ser196Thr) but near binding site for PIP2. Authors note that ANO1 may be paternally imprinted as affected individuals who inherited the variant from their mothers had an earlier age at onset, whereas those who inherited the variant from their father had later onset (families MM137/MM001).
37012328: 88 paediatric MMA patients, 3 patients with mixed clinical presentations had ANO1 variants through WES filtering, no evidence of pathogenicity provided.
Sources: Literature
Cerebral vascular malformations v3.18 COL5A1 Arina Puzriakova Tag Q2_24_promote_green was removed from gene: COL5A1.
Cerebral vascular malformations v3.18 SETD5 Arina Puzriakova Tag watchlist was removed from gene: SETD5.
Tag to_be_confirmed_NHSE was removed from gene: SETD5.
Cerebral vascular malformations v3.18 SETD5 Arina Puzriakova changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remainsAmber. Additional comments from reviewing GLHs: E: I can not find any new published evidence that this gene is associated with Cerebral vascular phenotype since 2020 publication - PMID 31474762 and Helens review in PanelApp. Large cohort study of Moyamoya angiopathy does not identify any individuals with variants in these genes - PMID:37012328. NW: Not enough evidence - limited to one paper only. NEY: moyamoya (the association) seems to be a small part of a developmental disorder phenotype and not a key feature in patients with variants in these genes. They feel more like R27 developmental disorder genes to me. I would keep them as amber. All of the moyamoya diagnoses we have had so far have been in RNF213, which is a pure moyamoya gene.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.

Additional comments from reviewing GLHs: E: I can not find any new published evidence that this gene is associated with Cerebral vascular phenotype since 2020 publication - PMID 31474762 and Helens review in PanelApp. Large cohort study of Moyamoya angiopathy does not identify any individuals with variants in these genes - PMID:37012328. NW: Not enough evidence - limited to one paper only. NEY: moyamoya (the association) seems to be a small part of a developmental disorder phenotype and not a key feature in patients with variants in these genes. They feel more like R27 developmental disorder genes to me. I would keep them as amber. All of the moyamoya diagnoses we have had so far have been in RNF213, which is a pure moyamoya gene.
Cerebral vascular malformations v3.18 CNOT3 Arina Puzriakova Tag to_be_confirmed_NHSE was removed from gene: CNOT3.
Cerebral vascular malformations v3.18 CNOT3 Arina Puzriakova changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remainsAmber. Additional comments from reviewing GLHs: E: I can not find any new published evidence that this gene is associated with Cerebral vascular phenotype since 2020 publication - PMID 31474762 and Helens review in PanelApp. Large cohort study of Moyamoya angiopathy does not identify any individuals with variants in these genes - PMID:37012328. NW: Not enough evidence - limited to one paper only NEY: moyamoya (the association) seems to be a small part of a developmental disorder phenotype and not a key feature in patients with variants in these genes. They feel more like R27 developmental disorder genes to me. I would keep them as amber. All of the moyamoya diagnoses we have had so far have been in RNF213, which is a pure moyamoya gene.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.

Additional comments from reviewing GLHs: E: I can not find any new published evidence that this gene is associated with Cerebral vascular phenotype since 2020 publication - PMID 31474762 and Helens review in PanelApp. Large cohort study of Moyamoya angiopathy does not identify any individuals with variants in these genes - PMID:37012328. NW: Not enough evidence - limited to one paper only NEY: moyamoya (the association) seems to be a small part of a developmental disorder phenotype and not a key feature in patients with variants in these genes. They feel more like R27 developmental disorder genes to me. I would keep them as amber. All of the moyamoya diagnoses we have had so far have been in RNF213, which is a pure moyamoya gene.
Cerebral vascular malformations v3.18 CHD4 Arina Puzriakova Tag watchlist was removed from gene: CHD4.
Tag to_be_confirmed_NHSE was removed from gene: CHD4.
Cerebral vascular malformations v3.18 CHD4 Arina Puzriakova changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remainsAmber. Additional comments from reviewing GLHs: E: I can not find any new published evidence that this gene is associated with Cerebral vascular phenotype since 2020 publication - PMID 31474762 and Helens review in PanelApp. Large cohort study of Moyamoya angiopathy does not identify any individuals with variants in these genes - PMID:37012328. NW: Not enough evidence - limited to one paper only. NEY: moyamoya (the association) seems to be a small part of a developmental disorder phenotype and not a key feature in patients with variants in these genes. They feel more like R27 developmental disorder genes to me. I would keep them as amber. All of the moyamoya diagnoses we have had so far have been in RNF213, which is a pure moyamoya gene.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.

Additional comments from reviewing GLHs: E: I can not find any new published evidence that this gene is associated with Cerebral vascular phenotype since 2020 publication - PMID 31474762 and Helens review in PanelApp. Large cohort study of Moyamoya angiopathy does not identify any individuals with variants in these genes - PMID:37012328. NW: Not enough evidence - limited to one paper only. NEY: moyamoya (the association) seems to be a small part of a developmental disorder phenotype and not a key feature in patients with variants in these genes. They feel more like R27 developmental disorder genes to me. I would keep them as amber. All of the moyamoya diagnoses we have had so far have been in RNF213, which is a pure moyamoya gene.
Cerebral vascular malformations v3.18 COL5A1 Arina Puzriakova reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v3.18 SETD5 Arina Puzriakova reviewed gene: SETD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v3.18 CNOT3 Arina Puzriakova reviewed gene: CNOT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v3.18 CHD4 Arina Puzriakova reviewed gene: CHD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v3.17 COL5A1 Arina Puzriakova Source Expert Review Green was added to COL5A1.
Source NHS GMS was added to COL5A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cerebral vascular malformations v3.16 CENPJ Arina Puzriakova commented on gene: CENPJ
Cerebral vascular malformations v3.16 CENPJ Arina Puzriakova Tag new-gene-name tag was added to gene: CENPJ.
Cerebral vascular malformations v3.16 CBS Ginat Narkis gene: CBS was added
gene: CBS was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Cerebral vascular malformations v3.16 TRAIP Arina Puzriakova Phenotypes for gene: TRAIP were changed from Seckel syndrome 9 616777 to Seckel syndrome 9, OMIM:616777
Cerebral vascular malformations v3.15 COL5A1 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: COL5A1.
Cerebral vascular malformations v3.15 COL5A1 Achchuthan Shanmugasundram Classified gene: COL5A1 as Amber List (moderate evidence)
Cerebral vascular malformations v3.15 COL5A1 Achchuthan Shanmugasundram Gene: col5a1 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v3.14 COL5A1 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence available for the association of heterozygous COL5A1 variants with this panel. However, there are only two cases reported with compound heterozygous variants. Hence the MOI should be set as 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'.
Cerebral vascular malformations v3.14 COL5A1 Achchuthan Shanmugasundram Mode of inheritance for gene: COL5A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v3.13 COL5A1 Achchuthan Shanmugasundram Phenotypes for gene: COL5A1 were changed from Fibromuscular dysplasia, multifocal to Ehlers-Danlos syndrome, classic type, 1, OMIM:130000; Fibromuscular dysplasia, multifocal, OMIM:619329
Cerebral vascular malformations v3.12 COL5A1 Achchuthan Shanmugasundram Publications for gene: COL5A1 were set to PMID: 32938213
Cerebral vascular malformations v3.11 COL5A1 Achchuthan Shanmugasundram edited their review of gene: COL5A1: Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v3.11 COL5A1 Achchuthan Shanmugasundram edited their review of gene: COL5A1: Changed phenotypes to: Ehlers-Danlos syndrome, classic type, 1, OMIM:130000, Fibromuscular dysplasia, multifocal, OMIM:619329
Cerebral vascular malformations v3.11 COL5A1 Achchuthan Shanmugasundram changed review comment from: PMID:17053184 - Of 15 patients from seven families with spontaneous cervical artery dissections (CAD) recruited in this study, two patients from a family carried a rare variant in COL5A1 (p.Asp192Asn). One of them also carried a rare variant in COL5A2.

PMID:31903434 - Among 43 patients with cervical artery dissection (CeAD) analysed in this study, one patient had classic Ehlers Danlos syndrome due to two different missense variants in COL5A1 (p.Arg65Trp and p.Val172Phe), while another patient had missense variants in COL5A2 (p.Pro1103Leu) and COL5A1 (p.Thr1757Met).

PMID:32938213 - Four unrelated individuals were reported with the same heterozygous variant in COL5A1 (p.Gly514Ser) and they presented with arterial aneurysms, dissections, tortuosity, and mFMD affecting multiple arteries. The existence of a common haplotype among all four probands suggest founder effect.

PMID:33189937 - A 22-year-old patient with intracranial aneurysm and mild connective tissue manifestations reminiscent of EDS was identified with two COL5A1 missense variants in trans configuration (p.Gly530Ser and p.Pro1379Ser).

PMID:35911880; to: PMID:17053184 - Of 15 patients from seven families with spontaneous cervical artery dissections (CAD) recruited in this study, two patients from a family carried a rare variant in COL5A1 (p.Asp192Asn). One of them also carried a rare variant in COL5A2.

PMID:31903434 - Among 43 patients with cervical artery dissection (CeAD) analysed in this study, one patient had classic Ehlers Danlos syndrome due to two different missense variants in COL5A1 (p.Arg65Trp and p.Val172Phe), while another patient had missense variants in COL5A2 (p.Pro1103Leu) and COL5A1 (p.Thr1757Met).

PMID:32938213 - Four unrelated individuals were reported with the same heterozygous variant in COL5A1 (p.Gly514Ser) and they presented with arterial aneurysms, dissections, tortuosity, and mFMD affecting multiple arteries. The existence of a common haplotype among all four probands suggest founder effect.

PMID:33189937 - A 22-year-old patient with intracranial aneurysm and mild connective tissue manifestations reminiscent of EDS was identified with two COL5A1 missense variants in trans configuration (p.Gly530Ser and p.Pro1379Ser).

PMID:35911880 - A female was reported with postpartum arterial dissection involving all four cervicocephalic arteries resulting in acute cerebral infarction. She was identified with a heterozygous COL5A1 gene variant (p.Asp1648Gly).

This gene has been associated with relevant phenotypes in OMIM and Gene2Phenotype.
Cerebral vascular malformations v3.11 COL5A1 Achchuthan Shanmugasundram reviewed gene: COL5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 17053184, 31903434, 32938213, 33189937, 35911880; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebral vascular malformations v3.11 SMARCAL1 Arina Puzriakova Phenotypes for gene: SMARCAL1 were changed from Schimke immunoosseous dysplasia 242900 to Schimke immunoosseous dysplasia, OMIM:242900
Cerebral vascular malformations v3.10 ADA2 Sarah Leigh Publications for gene: ADA2 were set to 3471198, 25528372
Cerebral vascular malformations v3.9 COL5A1 Dmitrijs Rots changed review comment from: PMID: 32938213 describe 4 independent probands with the COL5A1 pathogenic variant c.1540G>A, p.(Gly514Ser) who presented with arterial aneurysms, dissections, tortuosity, and mFMD affecting multiple arteries.
Enough evidence for green. Other mFMD included in the panel.
Sources: Radboud University Medical Center, Nijmegen; to: PMID: 32938213 describe 4 independent probands with the COL5A1 pathogenic variant c.1540G>A, p.(Gly514Ser) who presented with arterial aneurysms, dissections, tortuosity, and mFMD affecting multiple arteries.
Enough evidence for green. Other mFMD included in the panel.
Sources: Radboud University Medical Center, Nijmegen
Cerebral vascular malformations v3.9 COL5A1 Dmitrijs Rots gene: COL5A1 was added
gene: COL5A1 was added to Cerebral vascular malformations. Sources: Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL5A1 were set to PMID: 32938213
Phenotypes for gene: COL5A1 were set to Fibromuscular dysplasia, multifocal
Mode of pathogenicity for gene: COL5A1 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: COL5A1 was set to GREEN
Added comment: PMID: 32938213 describe 4 independent probands with the COL5A1 pathogenic variant c.1540G>A, p.(Gly514Ser) who presented with arterial aneurysms, dissections, tortuosity, and mFMD affecting multiple arteries.
Enough evidence for green. Other mFMD included in the panel.
Sources: Radboud University Medical Center, Nijmegen
Cerebral vascular malformations v3.9 NOTCH3 Arina Puzriakova Phenotypes for gene: NOTCH3 were changed from Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy; Cerebral Autosomal Dominant Arteriopathy 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 (CADASIL) to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310
Cerebral vascular malformations v3.8 SETD5 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: SETD5.
Tag Q3_22_expert_review was removed from gene: SETD5.
Cerebral vascular malformations v3.8 CNOT3 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: CNOT3.
Tag Q3_22_expert_review was removed from gene: CNOT3.
Cerebral vascular malformations v3.8 CHD4 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: CHD4.
Tag Q3_22_expert_review was removed from gene: CHD4.
Cerebral vascular malformations v3.5 PIK3CA Sarah Leigh edited their review of gene: PIK3CA: Added comment: Somatic PIK3CA variants are associated with Cerebral cavernous malformations 4, somatic, OMIM:619538. At least three somatic PIK3CA variants have been reported (PMID: 34496175).; Changed rating: RED
Cerebral vascular malformations v3.5 PIK3CA Sarah Leigh Added comment: Comment on mode of inheritance: Somatic PIK3CA variant are associated with Cerebral cavernous malformations 4, somatic, OMIM:619538.
Cerebral vascular malformations v3.5 PIK3CA Sarah Leigh Mode of inheritance for gene: PIK3CA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Cerebral vascular malformations v3.4 PIK3CA Sarah Leigh Tag somatic tag was added to gene: PIK3CA.
Cerebral vascular malformations v3.4 PIK3CA Sarah Leigh Phenotypes for gene: PIK3CA were changed from Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 ; Cerebral Malformation Disorders; Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic to Cerebral cavernous malformations 4, somatic, OMIM:619538
Cerebral vascular malformations v3.3 PIK3CA Sarah Leigh Publications for gene: PIK3CA were set to
Cerebral vascular malformations v3.2 PIK3CA Sarah Leigh Mode of inheritance for gene: PIK3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v3.1 Achchuthan Shanmugasundram Panel version 3.0 has been signed off on 2023-03-22
Cerebral vascular malformations v3.0 Achchuthan Shanmugasundram promoted panel to version 3.0
Cerebral vascular malformations v2.68 COL3A1 Eleanor Williams Tag Q3_22_MOI was removed from gene: COL3A1.
Tag Q3_22_expert_review was removed from gene: COL3A1.
Cerebral vascular malformations v2.68 COL3A1 Eleanor Williams commented on gene: COL3A1: After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains as 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'.
Cerebral vascular malformations v2.68 ANGPTL6 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ANGPTL6.
Cerebral vascular malformations v2.68 SETD5 Eleanor Williams Tag to_be_confirmed_NHSE tag was added to gene: SETD5.
Cerebral vascular malformations v2.68 CNOT3 Eleanor Williams Tag to_be_confirmed_NHSE tag was added to gene: CNOT3.
Cerebral vascular malformations v2.68 CHD4 Eleanor Williams Tag to_be_confirmed_NHSE tag was added to gene: CHD4.
Cerebral vascular malformations v2.68 CBL Eleanor Williams Tag Q3_21_rating was removed from gene: CBL.
Cerebral vascular malformations v2.68 ANGPTL6 Eleanor Williams Tag Q2_21_rating was removed from gene: ANGPTL6.
Cerebral vascular malformations v2.68 ANGPTL6 Eleanor Williams changed review comment from: The rating of this gene has been updated to greenfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Cerebral vascular malformations v2.68 SETD5 Eleanor Williams commented on gene: SETD5: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green.
Cerebral vascular malformations v2.68 CNOT3 Eleanor Williams commented on gene: CNOT3: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green.
Cerebral vascular malformations v2.68 CHD4 Eleanor Williams commented on gene: CHD4: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green.
Cerebral vascular malformations v2.68 CBL Eleanor Williams commented on gene: CBL
Cerebral vascular malformations v2.68 ANGPTL6 Eleanor Williams reviewed gene: ANGPTL6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cerebral vascular malformations v2.67 ANGPTL6 Eleanor Williams Source Expert Review Green was added to ANGPTL6.
Source NHS GMS was added to ANGPTL6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cerebral vascular malformations v2.66 PAFAH1B1 Arina Puzriakova Phenotypes for gene: PAFAH1B1 were changed from Cerebral Malformation Disorders to Lissencephaly 1, OMIM:607432; Subcortical laminar heterotopia, OMIM:607432
Cerebral vascular malformations v2.65 DCX Arina Puzriakova Phenotypes for gene: DCX were changed from Cerebral Malformation Disorders to Lissencephaly, X-linked, OMIM:300067; Subcortical laminal heterotopia, X-linked, OMIM:300067
Cerebral vascular malformations v2.64 DCX Arina Puzriakova Mode of inheritance for gene: DCX was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cerebral vascular malformations v2.63 SETD5 Eleanor Williams Tag Q3_22_expert_review tag was added to gene: SETD5.
Cerebral vascular malformations v2.63 CNOT3 Eleanor Williams Tag Q3_22_expert_review tag was added to gene: CNOT3.
Cerebral vascular malformations v2.63 CHD4 Eleanor Williams Tag Q3_22_expert_review tag was added to gene: CHD4.
Cerebral vascular malformations v2.63 CNOT3 Sarah Leigh edited their review of gene: CNOT3: Changed rating: AMBER
Cerebral vascular malformations v2.63 CNOT3 Sarah Leigh changed review comment from: Green rating recommended based on four unrelated cases of Intellectual developmental disorder with speech delay, autism, and dysmorphic facies (OMIM:618672) with CNOT3 variants reported in PMID: 31474762, all of these cases had features of moyamoya disease.; to: After consultation with Helen Brittain (Clinical Fellow, Genomics England), SETD5 has been given an amber rating as the evidence of association was from a single publication. PMID: 31474762 reported CNOT3 variants in four unrelated cases of Intellectual developmental disorder with speech delay, autism, and dysmorphic facies (OMIM:618672), all of these cases had features of moyamoya disease.
Cerebral vascular malformations v2.63 CHD4 Sarah Leigh changed review comment from: Comment on list classification: Moyamoya disease MONDO:0016820 is relevant to this panel - Cerebral vascular malformations.
PMID 31474762 reports a single de novo missense variant in a case of Moyamoya angiopathy, six further CHD4 variants were also identified in this study, however, the pattern of inheritance was uncertain. PMID 27616479 found a CHD4 missense variant in a case who also had Moyama angiopathy and two further de novo missense variants were reported in probands with congenital heart disease who had neurodevelopmental deficit (PMID 28991257).; to: Comment on list classification: After consultation with Helen Brittain (Clinical Fellow, Genomics England), CHD4 has been given an amber rating, as the clinical features of the cases reported may not be relevant to this panel. PMID 31474762 reports a single de novo missense variant in a case of Moyamoya angiopathy, six further CHD4 variants were also identified in this study, however, the pattern of inheritance was uncertain. PMID 27616479 found a CHD4 missense variant in a case who also had Moyama angiopathy and two further de novo missense variants were reported in probands with congenital heart disease who had neurodevelopmental deficit (PMID 28991257).
Cerebral vascular malformations v2.63 CHD4 Sarah Leigh edited their review of gene: CHD4: Changed rating: AMBER
Cerebral vascular malformations v2.63 CHD4 Sarah Leigh Deleted their comment
Cerebral vascular malformations v2.63 SETD5 Sarah Leigh changed review comment from: Amber rating based on SETD5 variants reported in PMID: 24680889, 2302093, 25138099 & 31474762. There was insufficient clinical data to classify the cases reported as having features of Moyamoya disease.; to: After consultation with Helen Brittain (Clinical Fellow, Genomics England), SETD5 has been given an amber rating. SETD5 variants were reported in PMID: 24680889, 2302093, 25138099 & 31474762, but there was insufficient clinical data to classify the cases reported as having features of Moyamoya disease.
Cerebral vascular malformations v2.63 CNOT3 Sarah Leigh edited their review of gene: CNOT3: Added comment: Green rating recommended based on four unrelated cases of Intellectual developmental disorder with speech delay, autism, and dysmorphic facies (OMIM:618672) with CNOT3 variants reported in PMID: 31474762, all of these cases had features of moyamoya disease.; Changed rating: GREEN
Cerebral vascular malformations v2.63 CHD4 Sarah Leigh edited their review of gene: CHD4: Added comment: Green recommendation based on seven unrelated cases of Sifrim-Hitz-Weiss syndrome (OMIM:617159) with CHD4 variants reported in PMID: 31474762, who all had ischemic stroke due to bilateral moyamoya angiopathy.; Changed rating: GREEN
Cerebral vascular malformations v2.63 SETD5 Sarah Leigh edited their review of gene: SETD5: Changed rating: AMBER
Cerebral vascular malformations v2.63 SETD5 Sarah Leigh edited their review of gene: SETD5: Added comment: Amber rating based on SETD5 variants reported in PMID: 24680889, 2302093, 25138099 & 31474762. There was insufficient clinical data to classify the cases reported as having features of Moyamoya disease.; Changed rating: GREEN
Cerebral vascular malformations v2.63 SETD5 Eleanor Williams Tag Q3_22_expert_review was removed from gene: SETD5.
Cerebral vascular malformations v2.63 CNOT3 Eleanor Williams Tag Q3_22_expert_review was removed from gene: CNOT3.
Cerebral vascular malformations v2.63 CHD4 Eleanor Williams Tag Q3_22_expert_review was removed from gene: CHD4.
Cerebral vascular malformations v2.63 CHD4 Sarah Leigh Added comment: Comment on phenotypes: Moyamoya disease MONDO:0016820 is not specific to CHD4 variants.
Cerebral vascular malformations v2.63 CHD4 Sarah Leigh Phenotypes for gene: CHD4 were changed from Moyamoya disease MONDO:0016820; Sifrim-Hitz-Weiss syndrome OMIM:617159; Sifrim-Hitz-Weiss syndrome MONDO:0014946 to Moyamoya disease MONDO:0016820; Sifrim-Hitz-Weiss syndrome OMIM:617159; Sifrim-Hitz-Weiss syndrome MONDO:0014946
Cerebral vascular malformations v2.62 CNOT3 Sarah Leigh Added comment: Comment on phenotypes: Moyamoya disease MONDO:0016820 is not specific to CNOT3 variants.
Cerebral vascular malformations v2.62 CNOT3 Sarah Leigh Phenotypes for gene: CNOT3 were changed from 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 to 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
Cerebral vascular malformations v2.61 SETD5 Sarah Leigh Added comment: Comment on phenotypes: Moyamoya disease MONDO:0016820 is not specific to SETD5 variants.
Cerebral vascular malformations v2.61 SETD5 Sarah Leigh Phenotypes for gene: SETD5 were changed from Moyamoya disease MONDO:0016820; Mental retardation, autosomal dominant 23 OMIM:615761; intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO:0014336 to Moyamoya disease MONDO:0016820; Mental retardation, autosomal dominant 23 OMIM:615761; intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO:0014336
Cerebral vascular malformations v2.60 SETD5 Eleanor Williams commented on gene: SETD5
Cerebral vascular malformations v2.60 SETD5 Eleanor Williams Tag Q2_21_expert_review was removed from gene: SETD5.
Tag Q3_22_rating tag was added to gene: SETD5.
Tag Q3_22_expert_review tag was added to gene: SETD5.
Cerebral vascular malformations v2.60 CHD4 Eleanor Williams commented on gene: CHD4
Cerebral vascular malformations v2.60 CHD4 Eleanor Williams Tag Q2_21_expert_review was removed from gene: CHD4.
Tag Q3_22_rating tag was added to gene: CHD4.
Tag Q3_22_expert_review tag was added to gene: CHD4.
Cerebral vascular malformations v2.60 CNOT3 Eleanor Williams commented on gene: CNOT3
Cerebral vascular malformations v2.60 CNOT3 Eleanor Williams Tag Q2_21_expert_review was removed from gene: CNOT3.
Tag Q3_22_rating tag was added to gene: CNOT3.
Tag Q3_22_expert_review tag was added to gene: CNOT3.
Cerebral vascular malformations v2.60 COL3A1 Eleanor Williams Added comment: Comment on mode of inheritance: Biallelic variants are associated with Polymicrogyria with or without vascular-type EDS OMIM:618343, therefore the mode of inheritance should be considered for changing to Both mono and biallelic following GMS review.
Cerebral vascular malformations v2.60 COL3A1 Eleanor Williams Mode of inheritance for gene: COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v2.59 COL3A1 Eleanor Williams Tag Q3_22_MOI tag was added to gene: COL3A1.
Tag Q3_22_expert_review tag was added to gene: COL3A1.
Cerebral vascular malformations v2.59 ANTXR1 Arina Puzriakova Phenotypes for gene: ANTXR1 were changed from {Hemangioma, capillary infantile, susceptibility to}, 602089; {Hemangioma, capillary infantile, susceptibility to} to {?Hemangioma, capillary infantile, susceptibility to} , OMIM:602089
Cerebral vascular malformations v2.58 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 v2.58 JAG1 Arina Puzriakova Phenotypes for gene: JAG1 were changed from Moyamoya disease; Alagille syndrome 1, 118450 to Alagille syndrome 1, OMIM:118450; Moyamoya disease
Cerebral vascular malformations v2.57 CBL Ivone Leong Tag Q3_21_rating tag was added to gene: CBL.
Cerebral vascular malformations v2.57 CBL Ivone Leong reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v2.57 CBL Ivone Leong Phenotypes for gene: CBL were changed from early-onset moyamoya angiopathy; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563 to early-onset moyamoya angiopathy; moyamoya disease, MONDO:0016820; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563
Cerebral vascular malformations v2.56 CBL Ivone Leong Publications for gene: CBL were set to 28343148; 25283271
Cerebral vascular malformations v2.55 CBL Zornitza Stark reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: None; Publications: 28343148, 25283271, 28589114; Phenotypes: early-onset moyamoya angiopathy, Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v2.55 CHD4 Sarah Leigh Classified gene: CHD4 as Amber List (moderate evidence)
Cerebral vascular malformations v2.55 CHD4 Sarah Leigh Gene: chd4 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v2.54 SETD5 Sarah Leigh Publications for gene: SETD5 were set to 31474762
Cerebral vascular malformations v2.53 SETD5 Sarah Leigh Classified gene: SETD5 as Amber List (moderate evidence)
Cerebral vascular malformations v2.53 SETD5 Sarah Leigh Gene: setd5 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v2.52 SETD5 Sarah Leigh Tag watchlist tag was added to gene: SETD5.
Cerebral vascular malformations v2.52 SETD5 Sarah Leigh changed review comment from: Comment on list classification: Associated with Mental retardation, autosomal dominant 23 OMIM:615761 in OMIM and as confirmed Gen2Phen gene. At least one de novo variant has been reported a case of Moyamoya disease MONDO:0016820, who also had features of OMIM:615761.; to: Comment on list classification: Associated with Mental retardation, autosomal dominant 23 OMIM:615761 in OMIM and as confirmed Gen2Phen gene. At least one de novo variant has been reported a case of Moyamoya disease MONDO:0016820, who also had features of OMIM:615761, two further variants were found, but it was not possible to report their inheritance (PMID 31474762). Eight de novo SETD5 variants have been reported in Mental retardation, autosomal dominant 23 OMIM:615761 (PMIDs 24680889, 23020937, 25138099). However, none of these reported detailed neurological examinations that could have diagnosed Moyamoya disease.
Cerebral vascular malformations v2.52 SETD5 Sarah Leigh Tag Q2_21_expert_review tag was added to gene: SETD5.
Cerebral vascular malformations v2.52 CNOT3 Sarah Leigh commented on gene: CNOT3: Q2_21_expert_review added in order to ask whether the evaluation working group would like to seek specialist opinion on this gene / disease association.
Cerebral vascular malformations v2.52 CNOT3 Sarah Leigh Tag Q2_21_expert_review tag was added to gene: CNOT3.
Cerebral vascular malformations v2.52 CNOT3 Sarah Leigh changed review comment from: Comment on list classification: Associated with Intellectual developmental disorder with speech delay, autism, and dysmorphic facies (OMIM:618672) in OMIM and as confirmed Gen2Phen gene for CNOT3 syndrome. At least two de novo variants have been reported in two cases with Moyamoya disease MONDO:0016820, who also had some of the features of OMIM:618672.; to: Comment on list classification: Associated with Intellectual developmental disorder with speech delay, autism, and dysmorphic facies (OMIM:618672) in OMIM and as confirmed Gen2Phen gene for CNOT3 syndrome. PMID 31474762 reports at least two de novo variants (one nonsense & one missense) in two cases with Moyamoya disease MONDO:0016820, who also had some of the features of OMIM:618672.
An association between CNOT3 protein levels, NTNG1 variants and cerebral atherosclorosis has also been reported in PMID 34073619.
Cerebral vascular malformations v2.52 CHD4 Sarah Leigh Publications for gene: CHD4 were set to 31474762; 27616479; 27479907
Cerebral vascular malformations v2.51 CHD4 Sarah Leigh changed review comment from: Q2_21_expert_review added in order to ask whether the evaluation working group would like to seek specialist opinion on this gene / disease association.; to: Q2_21_expert_review tag added in order to ask whether the evaluation working group would like to seek specialist opinion on this gene / disease association.
Cerebral vascular malformations v2.51 CHD4 Sarah Leigh commented on gene: CHD4: Q2_21_expert_review added in order to ask whether the evaluation working group would like to seek specialist opinion on this gene / disease association.
Cerebral vascular malformations v2.51 CHD4 Sarah Leigh Tag watchlist tag was added to gene: CHD4.
Cerebral vascular malformations v2.51 CHD4 Sarah Leigh edited their review of gene: CHD4: Changed rating: AMBER
Cerebral vascular malformations v2.51 CHD4 Sarah Leigh changed review comment from: Comment on list classification: Moyamoya disease MONDO:0016820 is relevant to this panel - Cerebral vascular malformations.
PMID 31474762 reports a single de novo missense variant in a case of Moyamoya angiopathy, six further CHD4 variants were also identified in this study, however, the pattern of inheritance was uncertain. PMID 27616479 found a CHD4 missense variant is a case who also had Moyama angiopathy and two further de novo missense variants were reported in probands with congenital heart disease who had neurodevelopmental deficit (PMID 28991257).; to: Comment on list classification: Moyamoya disease MONDO:0016820 is relevant to this panel - Cerebral vascular malformations.
PMID 31474762 reports a single de novo missense variant in a case of Moyamoya angiopathy, six further CHD4 variants were also identified in this study, however, the pattern of inheritance was uncertain. PMID 27616479 found a CHD4 missense variant in a case who also had Moyama angiopathy and two further de novo missense variants were reported in probands with congenital heart disease who had neurodevelopmental deficit (PMID 28991257).
Cerebral vascular malformations v2.51 CHD4 Sarah Leigh changed review comment from: Comment on list classification: PMID 31474762 reports variants in CHD4 cases of Moyamoya disease MONDO:0016820, this is a new gene / condition association. Moyamoya is relevant to this panel - Cerebral vascular malformations. So far there is not enough evidence for this gene to be amber or green for Moyamoya.; to: Comment on list classification: Moyamoya disease MONDO:0016820 is relevant to this panel - Cerebral vascular malformations.
PMID 31474762 reports a single de novo missense variant in a case of Moyamoya angiopathy, six further CHD4 variants were also identified in this study, however, the pattern of inheritance was uncertain. PMID 27616479 found a CHD4 missense variant is a case who also had Moyama angiopathy and two further de novo missense variants were reported in probands with congenital heart disease who had neurodevelopmental deficit (PMID 28991257).
Cerebral vascular malformations v2.51 CHD4 Sarah Leigh Tag Q2_21_expert_review tag was added to gene: CHD4.
Cerebral vascular malformations v2.51 DNA2 Arina Puzriakova Phenotypes for gene: DNA2 were changed from Seckel syndrome 8 615807 to Seckel syndrome 8, OMIM:615807
Cerebral vascular malformations v2.50 ANGPTL6 Sarah Leigh edited their review of gene: ANGPTL6: Added comment: Not associated with relevant phenotype in OMIM or Gen2Phen. At least 9 variants reported in at least 11 families with Familial Intracranial Aneurysm. Expression and secretion studies have been performed for NM_031917.2. c.1378A>T, p.Lys460Ter, showing that although it is expressed it is not secreted.; Changed rating: GREEN
Cerebral vascular malformations v2.50 ANGPTL6 Sarah Leigh Tag Q2_21_rating tag was added to gene: ANGPTL6.
Cerebral vascular malformations v2.50 ANGPTL6 Sarah Leigh Publications for gene: ANGPTL6 were set to 29304371; 33106390
Cerebral vascular malformations v2.49 ANGPTL6 Sarah Leigh Classified gene: ANGPTL6 as Amber List (moderate evidence)
Cerebral vascular malformations v2.49 ANGPTL6 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Cerebral vascular malformations v2.49 ANGPTL6 Sarah Leigh Gene: angptl6 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v2.48 ANGPTL6 Sarah Leigh Phenotypes for gene: ANGPTL6 were changed from Cerebral aneurysm to brain aneurysm MONDO:0005291
Cerebral vascular malformations v2.47 SETD5 Sarah Leigh Classified gene: SETD5 as Red List (low evidence)
Cerebral vascular malformations v2.47 SETD5 Sarah Leigh Added comment: Comment on list classification: Associated with Mental retardation, autosomal dominant 23 OMIM:615761 in OMIM and as confirmed Gen2Phen gene. At least one de novo variant has been reported a case of Moyamoya disease MONDO:0016820, who also had features of OMIM:615761.
Cerebral vascular malformations v2.47 SETD5 Sarah Leigh Gene: setd5 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v2.46 SETD5 Sarah Leigh Phenotypes for gene: SETD5 were changed from MoyaMoya; Mental retardation, autosomal dominant 23 OMIM:615761; intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO:0014336 to Moyamoya disease MONDO:0016820; Mental retardation, autosomal dominant 23 OMIM:615761; intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO:0014336
Cerebral vascular malformations v2.45 CHD4 Sarah Leigh Phenotypes for gene: CHD4 were changed from Sifrim-Hitz-Weiss syndrome OMIM:617159; Sifrim-Hitz-Weiss syndrome MONDO:0014946 to Moyamoya disease MONDO:0016820; Sifrim-Hitz-Weiss syndrome OMIM:617159; Sifrim-Hitz-Weiss syndrome MONDO:0014946
Cerebral vascular malformations v2.44 CHD4 Sarah Leigh changed review comment from: Comment on list classification: PMID 31474762 reports variants in CHD4 cases of Moya Moya, this is a new gene / condition association. Moya Moya is relevant to this panel - Cerebral vascular malformations. So far there is not enough evidence for this gene to be amber or green for Moya Moya.; to: Comment on list classification: PMID 31474762 reports variants in CHD4 cases of Moyamoya disease MONDO:0016820, this is a new gene / condition association. Moyamoya is relevant to this panel - Cerebral vascular malformations. So far there is not enough evidence for this gene to be amber or green for Moyamoya.
Cerebral vascular malformations v2.44 CNOT3 Sarah Leigh Phenotypes for gene: CNOT3 were changed from Intellectual developmental disorder with speech delay, autism, and dysmorphic facies OMIM:618672; intellectual developmental disorder with speech delay, autism, and dysmorphic facies MONDO:0032864 to 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
Cerebral vascular malformations v2.43 CNOT3 Sarah Leigh changed review comment from: Comment on list classification: Associated with Intellectual developmental disorder with speech delay, autism, and dysmorphic facies (OMIM:618672) in OMIM and as confirmed Gen2Phen gene for CNOT3 syndrome. At least two de novo variants have been reported in two cases with Moyamoya angiopathy (MMA), who also had some of the features of OMIM:618672.; to: Comment on list classification: Associated with Intellectual developmental disorder with speech delay, autism, and dysmorphic facies (OMIM:618672) in OMIM and as confirmed Gen2Phen gene for CNOT3 syndrome. At least two de novo variants have been reported in two cases with Moyamoya disease MONDO:0016820, who also had some of the features of OMIM:618672.
Cerebral vascular malformations v2.43 SETD5 Sarah Leigh Phenotypes for gene: SETD5 were changed from Moya Moya; Mental retardation, autosomal dominant 23, MIM# 615761 to MoyaMoya; Mental retardation, autosomal dominant 23 OMIM:615761; intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO:0014336
Cerebral vascular malformations v2.42 CNOT3 Sarah Leigh changed review comment from: Comment on list classification: Associated with Intellectual developmental disorder with speech delay, autism, and dysmorphic facies OMIM:618672 in OMIM and as confirmed Gen2Phen gene for CNOT3 syndrome. At least two de novo variants have been reported in two cases with Moyamoya angiopathy (MMA), in addition to some of the features of OMIM:618672.; to: Comment on list classification: Associated with Intellectual developmental disorder with speech delay, autism, and dysmorphic facies (OMIM:618672) in OMIM and as confirmed Gen2Phen gene for CNOT3 syndrome. At least two de novo variants have been reported in two cases with Moyamoya angiopathy (MMA), who also had some of the features of OMIM:618672.
Cerebral vascular malformations v2.42 CNOT3 Sarah Leigh Classified gene: CNOT3 as Amber List (moderate evidence)
Cerebral vascular malformations v2.42 CNOT3 Sarah Leigh Added comment: Comment on list classification: Associated with Intellectual developmental disorder with speech delay, autism, and dysmorphic facies OMIM:618672 in OMIM and as confirmed Gen2Phen gene for CNOT3 syndrome. At least two de novo variants have been reported in two cases with Moyamoya angiopathy (MMA), in addition to some of the features of OMIM:618672.
Cerebral vascular malformations v2.42 CNOT3 Sarah Leigh Gene: cnot3 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v2.41 CNOT3 Sarah Leigh Phenotypes for gene: CNOT3 were changed from Moya Moya; Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672 to Intellectual developmental disorder with speech delay, autism, and dysmorphic facies OMIM:618672; intellectual developmental disorder with speech delay, autism, and dysmorphic facies MONDO:0032864
Cerebral vascular malformations v2.40 CHD4 Sarah Leigh changed review comment from: Comment on list classification: PMID 31474762 reports variants in CHD4 cases of Moya Moya, this is a new gene condition association. Moya Moya is relevant to this panel -Cerebral vascular malformations. So far there is not enough evidence for this gene to be amber or green for Moya Moya.; to: Comment on list classification: PMID 31474762 reports variants in CHD4 cases of Moya Moya, this is a new gene / condition association. Moya Moya is relevant to this panel - Cerebral vascular malformations. So far there is not enough evidence for this gene to be amber or green for Moya Moya.
Cerebral vascular malformations v2.40 CHD4 Sarah Leigh Classified gene: CHD4 as Red List (low evidence)
Cerebral vascular malformations v2.40 CHD4 Sarah Leigh Added comment: Comment on list classification: PMID 31474762 reports variants in CHD4 cases of Moya Moya, this is a new gene condition association. Moya Moya is relevant to this panel -Cerebral vascular malformations. So far there is not enough evidence for this gene to be amber or green for Moya Moya.
Cerebral vascular malformations v2.40 CHD4 Sarah Leigh Gene: chd4 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v2.39 CHD4 Sarah Leigh Publications for gene: CHD4 were set to 31474762; 27616479
Cerebral vascular malformations v2.38 CHD4 Sarah Leigh Publications for gene: CHD4 were set to 31474762
Cerebral vascular malformations v2.37 CHD4 Sarah Leigh Phenotypes for gene: CHD4 were changed from Moya Moya; Sifrim-Hitz-Weiss syndrome, MIM# 617159 to Sifrim-Hitz-Weiss syndrome OMIM:617159; Sifrim-Hitz-Weiss syndrome MONDO:0014946
Cerebral vascular malformations v2.36 PKD2 Ivone Leong Phenotypes for gene: PKD2 were changed from Polycystic kidney disease 2 613095 to Polycystic kidney disease 2, OMIM:613095
Cerebral vascular malformations v2.35 PKD1 Ivone Leong Phenotypes for gene: PKD1 were changed from Polycystic kidney disease, adult type I 173900 to Polycystic kidney disease, adult type I, OMIM:173900
Cerebral vascular malformations v2.34 PCNT Ivone Leong Phenotypes for gene: PCNT were changed from Moyamoya disease; Microcephalic osteodysplastic primordial dwarfism, type II 210720 to Moyamoya disease, MONDO:0016820; Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
Cerebral vascular malformations v2.33 NF1 Ivone Leong Phenotypes for gene: NF1 were changed from Moyamoya disease; Neurofibromatosis, type 1 162200 to Moyamoya disease, MONDO:0016820; Neurofibromatosis, type 1, OMIM:162200
Cerebral vascular malformations v2.32 MYH11 Ivone Leong Phenotypes for gene: MYH11 were changed from moyamoya-like angiopath; Aortic aneurysm, familial thoracic 4, 132900 to moyamoya-like angiopath; Aortic aneurysm, familial thoracic 4, OMIM:132900
Cerebral vascular malformations v2.31 HBB Ivone Leong Phenotypes for gene: HBB were changed from Sickle cell anemia 603903 to Sickle cell anemia, OMIM:603903
Cerebral vascular malformations v2.30 HBB Ivone Leong Phenotypes for gene: HBB were changed from Sickle cell anemia 603903 to Sickle cell anemia 603903
Cerebral vascular malformations v2.29 GDF2 Ivone Leong Phenotypes for gene: GDF2 were changed from to Telangiectasia, hereditary hemorrhagic, type 5, OMIM:615506
Cerebral vascular malformations v2.28 FLVCR2 Ivone Leong Phenotypes for gene: FLVCR2 were changed from Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome to Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome, OMIM:225790
Cerebral vascular malformations v2.27 EPHB4 Ivone Leong Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation 2, 618196 to Capillary malformation-arteriovenous malformation 2, OMIM:618196
Cerebral vascular malformations v2.26 CEP152 Ivone Leong Phenotypes for gene: CEP152 were changed from Seckel syndrome 5 613823 to Seckel syndrome 5, OMIM:613823
Cerebral vascular malformations v2.25 CBL Ivone Leong Phenotypes for gene: CBL were changed from early-onset moyamoya angiopathy; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 to early-onset moyamoya angiopathy; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563
Cerebral vascular malformations v2.24 ATR Ivone Leong Phenotypes for gene: ATR were changed from Seckel syndrome 1 210600 to Seckel syndrome 1, OMIM:210600
Cerebral vascular malformations v2.23 ADA2 Ivone Leong Phenotypes for gene: ADA2 were changed from Sneddon syndrome 182410; Polyarteritis nodosa to ?Sneddon syndrome, OMIM:182410; Polyarteritis nodosa, MONDO:0019170
Cerebral vascular malformations v2.22 YY1AP1 Ivone Leong Phenotypes for gene: YY1AP1 were changed from Grange syndrome, 602531 to Grange syndrome, OMIM:602531
Cerebral vascular malformations v2.21 SMAD4 Ivone Leong Phenotypes for gene: SMAD4 were changed from Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050 to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050
Cerebral vascular malformations v2.20 SLC2A10 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Arterial tortuosity syndrome;Moyamoya disease;208050
Cerebral vascular malformations v2.20 SLC2A10 Ivone Leong Phenotypes for gene: SLC2A10 were changed from Arterial tortuosity syndrome; Moyamoya disease; 208050 to Arterial tortuosity syndrome, OMIM:208050
Cerebral vascular malformations v2.19 SAMHD1 Ivone Leong Phenotypes for gene: SAMHD1 were changed from Moyamoya disease to Moyamoya disease, MONDO:0016820
Cerebral vascular malformations v2.18 RNF213 Ivone Leong Phenotypes for gene: RNF213 were changed from {Moyamoya disease 2, susceptibility to} to {Moyamoya disease 2, susceptibility to}, OMIM:607151
Cerebral vascular malformations v2.17 RASA1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Capillary malformation-arteriovenous malformation 1, OMIM:608354;Parkes Weber syndrome, 608355;Parkes Weber syndrome (PKWS);Capillary Malformation-Arteriovenous Malformation Syndrome;Parkes Weber Syndrome;Parkes Weber syndrome
Cerebral vascular malformations v2.17 RASA1 Ivone Leong Phenotypes for gene: RASA1 were changed from Capillary malformation-arteriovenous malformation, 608354; Parkes Weber syndrome, 608355; Parkes Weber syndrome (PKWS); Capillary Malformation-Arteriovenous Malformation Syndrome; Parkes Weber Syndrome; Parkes Weber syndrome to Capillary malformation-arteriovenous malformation 1, OMIM:608354
Cerebral vascular malformations v2.16 PDCD10 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Cerebral cavernous malformations 3, 603285;Cerebral Cavernous Malformation;Cerebral cavernous malformations 3;Cerebral Cavernous Malformations;Familial Cerebral Cavernous Malformation
Cerebral vascular malformations v2.16 PDCD10 Ivone Leong Phenotypes for gene: PDCD10 were changed from Cerebral cavernous malformations 3, 603285; Cerebral Cavernous Malformation; Cerebral cavernous malformations 3; Cerebral Cavernous Malformations; Familial Cerebral Cavernous Malformation to Cerebral cavernous malformations 3, OMIM:603285
Cerebral vascular malformations v2.15 KRIT1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Cerebral cavernous malformations-1, 116860 ;Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860;Cerebral Cavernous Malformation;Cerebral cavernous malformations 1 ;Cerebral Cavernous Malformations;Familial Cerebral Cavernous Malformation;Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas
Cerebral vascular malformations v2.15 KRIT1 Ivone Leong Phenotypes for gene: KRIT1 were changed from Cerebral cavernous malformations-1, 116860 ; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860; Cerebral Cavernous Malformation; Cerebral cavernous malformations 1 ; Cerebral Cavernous Malformations; Familial Cerebral Cavernous Malformation; Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas to Cerebral cavernous malformations-1, OMIM:116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, OMIM:116860; Cavernous malformations of CNS and retina, OMIM:116860
Cerebral vascular malformations v2.14 GUCY1A3 Ivone Leong Phenotypes for gene: GUCY1A3 were changed from Moyamoya 6 with achalasia; Moyamoya 6 with achalasia, 615750 to Moyamoya 6 with achalasia, OMIM:615750
Cerebral vascular malformations v2.13 ENG Ivone Leong Phenotypes for gene: ENG were changed from Telangiectasia, hereditary hemorrhagic, type 1 187300 to Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300
Cerebral vascular malformations v2.12 COL3A1 Ivone Leong Phenotypes for gene: COL3A1 were changed from Ehlers-Danlos syndrome, type IV 130050 to Ehlers-Danlos syndrome, vascular type, OMIM:130050
Cerebral vascular malformations v2.11 CCM2 Ivone Leong Phenotypes for gene: CCM2 were changed from Cerebral cavernous malformations-2 603284; Capillary malformation-arteriovenous malformation 608354 to Cerebral cavernous malformations-2, OMIM:603284
Cerebral vascular malformations v2.10 ACVRL1 Ivone Leong Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 600376 to Telangiectasia, hereditary hemorrhagic, type 2, OMIM; 600376
Cerebral vascular malformations v2.9 ACTA2 Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Aortic aneurysm familial thoracic 6,611788; Multisystemic smooth muscle dysfunction syndrome,613834
Cerebral vascular malformations v2.9 ACTA2 Ivone Leong Phenotypes for gene: ACTA2 were changed from Moyamoya disease 5,614042; Aortic aneurysm familial thoracic 6,611788; Multisystemic smooth muscle dysfunction syndrome,613834 to Moyamoya disease 5, OMIM:614042
Cerebral vascular malformations v2.8 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
gene: ANGPTL6 was marked as current diagnostic
Added comment: Six unrelated families reported.
Sources: Literature
Cerebral vascular malformations v2.8 MYMY3 Arina Puzriakova Tag curated_removed tag was added to gene: MYMY3.
Cerebral vascular malformations v2.8 MYMY1 Arina Puzriakova Tag curated_removed tag was added to gene: MYMY1.
Cerebral vascular malformations v2.8 ANIB1 Arina Puzriakova Tag curated_removed tag was added to gene: ANIB1.
Cerebral vascular malformations v2.8 TUBB2A Arina Puzriakova Phenotypes for gene: TUBB2A were changed from Cerebral Malformation Disorders to Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763; Complex cortical dysplasia with other brain malformations 5, MONDO:0014337
Cerebral vascular malformations v2.7 CHD4 Zornitza Stark 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; Sifrim-Hitz-Weiss syndrome, MIM# 617159
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 v2.7 SETD5 Zornitza Stark 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; Mental retardation, autosomal dominant 23, MIM# 615761
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 v2.7 CNOT3 Zornitza Stark 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 developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672
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 v2.7 CCM2 Eleanor Williams Phenotypes for gene: CCM2 were changed from Cerebral Cavernous Malformation; Cerebral cavernous malformations 2; Cerebral Cavernous Malformations; Capillary malformation-arteriovenous malformation 608354 to Cerebral cavernous malformations-2 603284; Capillary malformation-arteriovenous malformation 608354
Cerebral vascular malformations v2.6 ACTA2 Eleanor Williams Phenotypes for gene: ACTA2 were changed from Moyamoya disease 5; Moyamoya Disease; Moyamoya disease 5,614042; Aortic aneurysm familial thoracic 6,611788; Multisystemic smooth muscle dysfunction syndrome,613834 to Moyamoya disease 5,614042; Aortic aneurysm familial thoracic 6,611788; Multisystemic smooth muscle dysfunction syndrome,613834
Cerebral vascular malformations v2.5 CCM2 Arina Puzriakova Publications for gene: CCM2 were set to 20301470; 14624391
Cerebral vascular malformations v2.4 MYMY3 Eleanor Williams Tag ensembl_ids_known_missing tag was added to gene: MYMY3.
Cerebral vascular malformations v2.4 MYMY1 Eleanor Williams Tag ensembl_ids_known_missing tag was added to gene: MYMY1.
Cerebral vascular malformations v2.4 ANIB1 Eleanor Williams Tag ensembl_ids_known_missing tag was added to gene: ANIB1.
Cerebral vascular malformations v2.4 MRVI1 Catherine Snow Tag new-gene-name tag was added to gene: MRVI1.
Cerebral vascular malformations v2.4 MRVI1 Catherine Snow commented on gene: MRVI1
Cerebral vascular malformations v2.3 Catherine Snow Panel version has been signed off
Cerebral vascular malformations v2.0 Louise Daugherty promoted panel to version 2.0
Cerebral vascular malformations v1.71 Louise Daugherty Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Cerebral vascular malformations v1.70 THSD1 Louise Daugherty commented on gene: THSD1: Downgraded from Green to Amber. Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain) - Amber in view intracerebral aneurysms. Unclear on penetrance.
Cerebral vascular malformations v1.70 ADA2 Louise Daugherty commented on gene: ADA2: Downgraded from Green to Amber. Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain) - Amber in view of Neuro tends to present with stroke secondary to vessel occlusion.
Cerebral vascular malformations v1.70 RNF213 Louise Daugherty Publications for gene: RNF213 were set to
Cerebral vascular malformations v1.69 RNF213 Louise Daugherty Mode of inheritance for gene: RNF213 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebral vascular malformations v1.68 CBL Louise Daugherty edited their review of gene: CBL: Changed rating: AMBER
Cerebral vascular malformations v1.68 MYH11 Louise Daugherty edited their review of gene: MYH11: Changed rating: AMBER
Cerebral vascular malformations v1.68 TGFBR2 Louise Daugherty Source Expert Review Red was added to TGFBR2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cerebral vascular malformations v1.68 TGFBR1 Louise Daugherty Source Expert Review Red was added to TGFBR1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cerebral vascular malformations v1.68 TGFB2 Louise Daugherty Source Expert Review Red was added to TGFB2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cerebral vascular malformations v1.68 SMAD3 Louise Daugherty Source Expert Review Red was added to SMAD3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cerebral vascular malformations v1.68 NOTCH3 Louise Daugherty Source Expert Review Red was added to NOTCH3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cerebral vascular malformations v1.68 JAG1 Louise Daugherty Source Expert Review Red was added to JAG1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cerebral vascular malformations v1.68 ELN Louise Daugherty Source Expert Review Red was added to ELN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Cerebral vascular malformations v1.68 THSD1 Louise Daugherty Source Expert Review Amber was added to THSD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 PKD2 Louise Daugherty Source Expert Review Amber was added to PKD2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 PKD1 Louise Daugherty Source Expert Review Amber was added to PKD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 PCNT Louise Daugherty Source Expert Review Amber was added to PCNT.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 HBB Louise Daugherty Source Expert Review Amber was added to HBB.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 FLVCR2 Louise Daugherty Source Expert Review Amber was added to FLVCR2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 CEP152 Louise Daugherty Source Expert Review Amber was added to CEP152.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 ATR Louise Daugherty Source Expert Review Amber was added to ATR.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 ADA2 Louise Daugherty Source Expert Review Amber was added to ADA2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 NF1 Louise Daugherty Source Expert Review Amber was added to NF1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v1.68 RNF213 Louise Daugherty Source Expert Review Green was added to RNF213.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cerebral vascular malformations v1.67 TGFBR2 Louise Daugherty reviewed gene: TGFBR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 TGFBR1 Louise Daugherty reviewed gene: TGFBR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 TGFB2 Louise Daugherty reviewed gene: TGFB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 SMAD3 Louise Daugherty reviewed gene: SMAD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 NOTCH3 Louise Daugherty reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 JAG1 Louise Daugherty reviewed gene: JAG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 ELN Louise Daugherty reviewed gene: ELN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 GDF2 Louise Daugherty reviewed gene: GDF2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 THSD1 Louise Daugherty reviewed gene: THSD1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 PKD2 Louise Daugherty reviewed gene: PKD2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 PKD1 Louise Daugherty edited their review of gene: PKD1: Added comment: Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain) - amber in view of vascular malformations seen not aligning with the intended clinical scope of this panel; Changed rating: AMBER
Cerebral vascular malformations v1.67 PCNT Louise Daugherty reviewed gene: PCNT: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 HBB Louise Daugherty reviewed gene: HBB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 FLVCR2 Louise Daugherty reviewed gene: FLVCR2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 CEP152 Louise Daugherty reviewed gene: CEP152: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 ATR Louise Daugherty reviewed gene: ATR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 ADA2 Louise Daugherty edited their review of gene: ADA2: Changed rating: AMBER
Cerebral vascular malformations v1.67 NF1 Louise Daugherty reviewed gene: NF1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 COL3A1 Louise Daugherty reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 RNF213 Louise Daugherty reviewed gene: RNF213: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 SMAD4 Louise Daugherty reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 SLC2A10 Louise Daugherty reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 SAMHD1 Louise Daugherty reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 RASA1 Louise Daugherty reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 PDCD10 Louise Daugherty reviewed gene: PDCD10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 KRIT1 Louise Daugherty reviewed gene: KRIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 GUCY1A3 Louise Daugherty edited their review of gene: GUCY1A3: Added comment: Combined reviews with Ian Berry (YNELGH), Vijeya Ganesan (Clinical expert - GOSH / ICH) & GEL clinical team (Richard Scott / Helen Brittain): relevant phenotype and sufficient evidence for a green rating; Changed rating: GREEN
Cerebral vascular malformations v1.67 ENG Louise Daugherty reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 CCM2 Louise Daugherty reviewed gene: CCM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 ACVRL1 Louise Daugherty reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 ACTA2 Louise Daugherty reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.67 MYH11 Louise Daugherty changed review comment from: New gene rated Amber - deemed relevant to the GMS panel R336 Cerebral vascular malformations; to: New gene - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.67 CBL Louise Daugherty changed review comment from: Comment on list classification: Changed rating from Red to Amber - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations. This was gene was recommended to be rated as Green but after further clinical expert it was decided to rate as Amber until there was sufficient evidence; to: Comment on list classification: Changed rating from Red to Amber - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations.
This was gene was recommended to be rated as Green but after further clinical expert it was decided to rate as Amber until there was sufficient evidence.
Cerebral vascular malformations v1.67 CBL Louise Daugherty changed review comment from: New gene rated Amber - deemed relevant to the GMS panel R336 Cerebral vascular malformations; to: New gene - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.67 CBL Louise Daugherty edited their review of gene: CBL: Changed rating: GREEN
Cerebral vascular malformations v1.67 MYH11 Louise Daugherty changed review comment from: Comment on list classification: Changed rating to Amber - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations. This was a new gene recommended to be rated as Green but after further clinical expert it was decided to rate as Amber until there was sufficient evidence ; to: Comment on list classification: Changed rating to Amber - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations.
This was a new gene recommended to be rated as Green but after further clinical expert it was decided to rate as Amber until there was sufficient evidence
Cerebral vascular malformations v1.67 MYH11 Louise Daugherty edited their review of gene: MYH11: Changed rating: GREEN
Cerebral vascular malformations v1.67 WDR62 Louise Daugherty Source Yorkshire and North East GLH was added to WDR62.
Cerebral vascular malformations v1.67 VLDLR Louise Daugherty Source Yorkshire and North East GLH was added to VLDLR.
Cerebral vascular malformations v1.67 TUBG1 Louise Daugherty Source Yorkshire and North East GLH was added to TUBG1.
Cerebral vascular malformations v1.67 TUBB3 Louise Daugherty Source Yorkshire and North East GLH was added to TUBB3.
Cerebral vascular malformations v1.67 TUBB2B Louise Daugherty Source Yorkshire and North East GLH was added to TUBB2B.
Cerebral vascular malformations v1.67 TUBB2A Louise Daugherty Source Yorkshire and North East GLH was added to TUBB2A.
Cerebral vascular malformations v1.67 TUBB Louise Daugherty Source Yorkshire and North East GLH was added to TUBB.
Cerebral vascular malformations v1.67 TUBA8 Louise Daugherty Source Yorkshire and North East GLH was added to TUBA8.
Cerebral vascular malformations v1.67 TUBA1A Louise Daugherty Source Yorkshire and North East GLH was added to TUBA1A.
Cerebral vascular malformations v1.67 TRAIP Louise Daugherty Source Yorkshire and North East GLH was added to TRAIP.
Cerebral vascular malformations v1.67 TMEM5 Louise Daugherty Source Yorkshire and North East GLH was added to TMEM5.
Cerebral vascular malformations v1.67 TEK Louise Daugherty Source Yorkshire and North East GLH was added to TEK.
Cerebral vascular malformations v1.67 STAMBP Louise Daugherty Source Yorkshire and North East GLH was added to STAMBP.
Cerebral vascular malformations v1.67 SRPX2 Louise Daugherty Source Yorkshire and North East GLH was added to SRPX2.
Cerebral vascular malformations v1.67 SMARCAL1 Louise Daugherty Source Yorkshire and North East GLH was added to SMARCAL1.
Cerebral vascular malformations v1.67 RTTN Louise Daugherty Source Yorkshire and North East GLH was added to RTTN.
Cerebral vascular malformations v1.67 RNF213 Louise Daugherty Source Yorkshire and North East GLH was added to RNF213.
Cerebral vascular malformations v1.67 RELN Louise Daugherty Source Yorkshire and North East GLH was added to RELN.
Cerebral vascular malformations v1.67 RBBP8 Louise Daugherty Source Yorkshire and North East GLH was added to RBBP8.
Cerebral vascular malformations v1.67 PTEN Louise Daugherty Source Yorkshire and North East GLH was added to PTEN.
Cerebral vascular malformations v1.67 POMT2 Louise Daugherty Source Yorkshire and North East GLH was added to POMT2.
Cerebral vascular malformations v1.67 POMT1 Louise Daugherty Source Yorkshire and North East GLH was added to POMT1.
Cerebral vascular malformations v1.67 POMGNT1 Louise Daugherty Source Yorkshire and North East GLH was added to POMGNT1.
Cerebral vascular malformations v1.67 PIK3R2 Louise Daugherty Source Yorkshire and North East GLH was added to PIK3R2.
Cerebral vascular malformations v1.67 PIK3CA Louise Daugherty Source Yorkshire and North East GLH was added to PIK3CA.
Cerebral vascular malformations v1.67 PAFAH1B1 Louise Daugherty Source Yorkshire and North East GLH was added to PAFAH1B1.
Cerebral vascular malformations v1.67 OPHN1 Louise Daugherty Source Yorkshire and North East GLH was added to OPHN1.
Cerebral vascular malformations v1.67 OCLN Louise Daugherty Source Yorkshire and North East GLH was added to OCLN.
Cerebral vascular malformations v1.67 NIN Louise Daugherty Source Yorkshire and North East GLH was added to NIN.
Cerebral vascular malformations v1.67 NDE1 Louise Daugherty Source Yorkshire and North East GLH was added to NDE1.
Cerebral vascular malformations v1.67 MEF2C Louise Daugherty Source Yorkshire and North East GLH was added to MEF2C.
Cerebral vascular malformations v1.67 LARGE1 Louise Daugherty Source Yorkshire and North East GLH was added to LARGE1.
Cerebral vascular malformations v1.67 LAMC3 Louise Daugherty Source Yorkshire and North East GLH was added to LAMC3.
Cerebral vascular malformations v1.67 LAMB1 Louise Daugherty Source Yorkshire and North East GLH was added to LAMB1.
Cerebral vascular malformations v1.67 KDR Louise Daugherty Source Yorkshire and North East GLH was added to KDR.
Cerebral vascular malformations v1.67 IL6 Louise Daugherty Source Yorkshire and North East GLH was added to IL6.
Cerebral vascular malformations v1.67 HTRA1 Louise Daugherty Source Yorkshire and North East GLH was added to HTRA1.
Cerebral vascular malformations v1.67 HLA-DRB1 Louise Daugherty Source Yorkshire and North East GLH was added to HLA-DRB1.
Cerebral vascular malformations v1.67 HLA-DQB1 Louise Daugherty Source Yorkshire and North East GLH was added to HLA-DQB1.
Cerebral vascular malformations v1.67 HLA-B Louise Daugherty Source Yorkshire and North East GLH was added to HLA-B.
Cerebral vascular malformations v1.67 GNAQ Louise Daugherty Source Yorkshire and North East GLH was added to GNAQ.
Cerebral vascular malformations v1.67 GLMN Louise Daugherty Source Yorkshire and North East GLH was added to GLMN.
Cerebral vascular malformations v1.67 GLA Louise Daugherty Source Yorkshire and North East GLH was added to GLA.
Cerebral vascular malformations v1.67 FOXF1 Louise Daugherty Source Yorkshire and North East GLH was added to FOXF1.
Cerebral vascular malformations v1.67 FLT4 Louise Daugherty Source Yorkshire and North East GLH was added to FLT4.
Cerebral vascular malformations v1.67 FBN1 Louise Daugherty Source Yorkshire and North East GLH was added to FBN1.
Cerebral vascular malformations v1.67 DNA2 Louise Daugherty Source Yorkshire and North East GLH was added to DNA2.
Cerebral vascular malformations v1.67 DCX Louise Daugherty Source Yorkshire and North East GLH was added to DCX.
Cerebral vascular malformations v1.67 CTSA Louise Daugherty Source Yorkshire and North East GLH was added to CTSA.
Cerebral vascular malformations v1.67 CRB1 Louise Daugherty Source Yorkshire and North East GLH was added to CRB1.
Cerebral vascular malformations v1.67 COL4A2 Louise Daugherty Source Yorkshire and North East GLH was added to COL4A2.
Cerebral vascular malformations v1.67 COL4A1 Louise Daugherty Source Yorkshire and North East GLH was added to COL4A1.
Cerebral vascular malformations v1.67 CEP63 Louise Daugherty Source Yorkshire and North East GLH was added to CEP63.
Cerebral vascular malformations v1.67 CENPJ Louise Daugherty Source Yorkshire and North East GLH was added to CENPJ.
Cerebral vascular malformations v1.67 BRCC3 Louise Daugherty Source Yorkshire and North East GLH was added to BRCC3.
Cerebral vascular malformations v1.67 ATP7A Louise Daugherty Source Yorkshire and North East GLH was added to ATP7A.
Cerebral vascular malformations v1.67 ARX Louise Daugherty Source Yorkshire and North East GLH was added to ARX.
Cerebral vascular malformations v1.67 ANTXR1 Louise Daugherty Source Yorkshire and North East GLH was added to ANTXR1.
Cerebral vascular malformations v1.67 ADGRG1 Louise Daugherty Source Yorkshire and North East GLH was added to ADGRG1.
Cerebral vascular malformations v1.67 ACE Louise Daugherty Source Yorkshire and North East GLH was added to ACE.
Cerebral vascular malformations v1.67 ABCC6 Louise Daugherty Source Yorkshire and North East GLH was added to ABCC6.
Cerebral vascular malformations v1.67 SMAD9 Louise Daugherty Source Yorkshire and North East GLH was added to SMAD9.
Cerebral vascular malformations v1.67 MRVI1 Louise Daugherty Source Yorkshire and North East GLH was added to MRVI1.
Cerebral vascular malformations v1.67 GDF2 Louise Daugherty Source Yorkshire and North East GLH was added to GDF2.
Cerebral vascular malformations v1.67 EPHB4 Louise Daugherty Source Yorkshire and North East GLH was added to EPHB4.
Cerebral vascular malformations v1.67 YY1AP1 Louise Daugherty Source Yorkshire and North East GLH was added to YY1AP1.
Cerebral vascular malformations v1.67 THSD1 Louise Daugherty Source Yorkshire and North East GLH was added to THSD1.
Cerebral vascular malformations v1.67 TGFBR2 Louise Daugherty Source Yorkshire and North East GLH was added to TGFBR2.
Cerebral vascular malformations v1.67 TGFBR1 Louise Daugherty Source Yorkshire and North East GLH was added to TGFBR1.
Cerebral vascular malformations v1.67 TGFB2 Louise Daugherty Source Yorkshire and North East GLH was added to TGFB2.
Cerebral vascular malformations v1.67 SMAD4 Louise Daugherty Source Yorkshire and North East GLH was added to SMAD4.
Cerebral vascular malformations v1.67 SMAD3 Louise Daugherty Source Yorkshire and North East GLH was added to SMAD3.
Cerebral vascular malformations v1.67 SLC2A10 Louise Daugherty Source Yorkshire and North East GLH was added to SLC2A10.
Cerebral vascular malformations v1.67 SAMHD1 Louise Daugherty Source Yorkshire and North East GLH was added to SAMHD1.
Cerebral vascular malformations v1.67 RASA1 Louise Daugherty Source Yorkshire and North East GLH was added to RASA1.
Cerebral vascular malformations v1.67 PKD2 Louise Daugherty Source Yorkshire and North East GLH was added to PKD2.
Cerebral vascular malformations v1.67 PKD1 Louise Daugherty Source Yorkshire and North East GLH was added to PKD1.
Cerebral vascular malformations v1.67 PDCD10 Louise Daugherty Source Yorkshire and North East GLH was added to PDCD10.
Cerebral vascular malformations v1.67 PCNT Louise Daugherty Source Yorkshire and North East GLH was added to PCNT.
Cerebral vascular malformations v1.67 NOTCH3 Louise Daugherty Source Yorkshire and North East GLH was added to NOTCH3.
Cerebral vascular malformations v1.67 NF1 Louise Daugherty Source Yorkshire and North East GLH was added to NF1.
Cerebral vascular malformations v1.67 MYH11 Louise Daugherty Source Yorkshire and North East GLH was added to MYH11.
Cerebral vascular malformations v1.67 KRIT1 Louise Daugherty Source Yorkshire and North East GLH was added to KRIT1.
Cerebral vascular malformations v1.67 JAG1 Louise Daugherty Source Yorkshire and North East GLH was added to JAG1.
Cerebral vascular malformations v1.67 HBB Louise Daugherty Source Yorkshire and North East GLH was added to HBB.
Cerebral vascular malformations v1.67 GUCY1A3 Louise Daugherty Source Yorkshire and North East GLH was added to GUCY1A3.
Cerebral vascular malformations v1.67 FLVCR2 Louise Daugherty Source Yorkshire and North East GLH was added to FLVCR2.
Cerebral vascular malformations v1.67 ENG Louise Daugherty Source Yorkshire and North East GLH was added to ENG.
Cerebral vascular malformations v1.67 ELN Louise Daugherty Source Yorkshire and North East GLH was added to ELN.
Cerebral vascular malformations v1.67 COL3A1 Louise Daugherty Source Yorkshire and North East GLH was added to COL3A1.
Cerebral vascular malformations v1.67 CEP152 Louise Daugherty Source Yorkshire and North East GLH was added to CEP152.
Cerebral vascular malformations v1.67 CCM2 Louise Daugherty Source Yorkshire and North East GLH was added to CCM2.
Cerebral vascular malformations v1.67 CBL Louise Daugherty Source Yorkshire and North East GLH was added to CBL.
Cerebral vascular malformations v1.67 ATR Louise Daugherty Source Yorkshire and North East GLH was added to ATR.
Cerebral vascular malformations v1.67 ADA2 Louise Daugherty Source Yorkshire and North East GLH was added to ADA2.
Cerebral vascular malformations v1.67 ACVRL1 Louise Daugherty Source Yorkshire and North East GLH was added to ACVRL1.
Cerebral vascular malformations v1.67 ACTA2 Louise Daugherty Source Yorkshire and North East GLH was added to ACTA2.
Cerebral vascular malformations v1.66 CBL Louise Daugherty Classified gene: CBL as Amber List (moderate evidence)
Cerebral vascular malformations v1.66 CBL Louise Daugherty Gene: cbl has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v1.65 CBL Louise Daugherty changed review comment from: Comment on list classification: Changed rating from Red to Green - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations; to: Comment on list classification: Changed rating from Red to Amber - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations. This was gene was recommended to be rated as Green but after further clinical expert it was decided to rate as Amber until there was sufficient evidence
Cerebral vascular malformations v1.65 CBL Louise Daugherty edited their review of gene: CBL: Changed rating: AMBER
Cerebral vascular malformations v1.65 CBL Louise Daugherty changed review comment from: New gene rated Green - deemed relevant to the GMS panel R336 Cerebral vascular malformations; to: New gene rated Amber - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.65 WDR62 Louise Daugherty Source NHS GMS was added to WDR62.
Cerebral vascular malformations v1.65 VLDLR Louise Daugherty Source NHS GMS was added to VLDLR.
Cerebral vascular malformations v1.65 TUBG1 Louise Daugherty Source NHS GMS was added to TUBG1.
Cerebral vascular malformations v1.65 TUBB3 Louise Daugherty Source NHS GMS was added to TUBB3.
Cerebral vascular malformations v1.65 TUBB2B Louise Daugherty Source NHS GMS was added to TUBB2B.
Cerebral vascular malformations v1.65 TUBB2A Louise Daugherty Source NHS GMS was added to TUBB2A.
Cerebral vascular malformations v1.65 TUBB Louise Daugherty Source NHS GMS was added to TUBB.
Cerebral vascular malformations v1.65 TUBA8 Louise Daugherty Source NHS GMS was added to TUBA8.
Cerebral vascular malformations v1.65 TUBA1A Louise Daugherty Source NHS GMS was added to TUBA1A.
Cerebral vascular malformations v1.65 TRAIP Louise Daugherty Source NHS GMS was added to TRAIP.
Cerebral vascular malformations v1.65 TMEM5 Louise Daugherty Source NHS GMS was added to TMEM5.
Cerebral vascular malformations v1.65 TEK Louise Daugherty Source NHS GMS was added to TEK.
Cerebral vascular malformations v1.65 STAMBP Louise Daugherty Source NHS GMS was added to STAMBP.
Cerebral vascular malformations v1.65 SRPX2 Louise Daugherty Source NHS GMS was added to SRPX2.
Cerebral vascular malformations v1.65 SMARCAL1 Louise Daugherty Source NHS GMS was added to SMARCAL1.
Cerebral vascular malformations v1.65 RTTN Louise Daugherty Source NHS GMS was added to RTTN.
Cerebral vascular malformations v1.65 RNF213 Louise Daugherty Source NHS GMS was added to RNF213.
Cerebral vascular malformations v1.65 RELN Louise Daugherty Source NHS GMS was added to RELN.
Cerebral vascular malformations v1.65 RBBP8 Louise Daugherty Source NHS GMS was added to RBBP8.
Cerebral vascular malformations v1.65 PTEN Louise Daugherty Source NHS GMS was added to PTEN.
Cerebral vascular malformations v1.65 POMT2 Louise Daugherty Source NHS GMS was added to POMT2.
Cerebral vascular malformations v1.65 POMT1 Louise Daugherty Source NHS GMS was added to POMT1.
Cerebral vascular malformations v1.65 POMGNT1 Louise Daugherty Source NHS GMS was added to POMGNT1.
Cerebral vascular malformations v1.65 PIK3R2 Louise Daugherty Source NHS GMS was added to PIK3R2.
Cerebral vascular malformations v1.65 PIK3CA Louise Daugherty Source NHS GMS was added to PIK3CA.
Cerebral vascular malformations v1.65 PAFAH1B1 Louise Daugherty Source NHS GMS was added to PAFAH1B1.
Cerebral vascular malformations v1.65 OPHN1 Louise Daugherty Source NHS GMS was added to OPHN1.
Cerebral vascular malformations v1.65 OCLN Louise Daugherty Source NHS GMS was added to OCLN.
Cerebral vascular malformations v1.65 NIN Louise Daugherty Source NHS GMS was added to NIN.
Cerebral vascular malformations v1.65 NDE1 Louise Daugherty Source NHS GMS was added to NDE1.
Cerebral vascular malformations v1.65 MEF2C Louise Daugherty Source NHS GMS was added to MEF2C.
Cerebral vascular malformations v1.65 LARGE1 Louise Daugherty Source NHS GMS was added to LARGE1.
Cerebral vascular malformations v1.65 LAMC3 Louise Daugherty Source NHS GMS was added to LAMC3.
Cerebral vascular malformations v1.65 LAMB1 Louise Daugherty Source NHS GMS was added to LAMB1.
Cerebral vascular malformations v1.65 KDR Louise Daugherty Source NHS GMS was added to KDR.
Cerebral vascular malformations v1.65 IL6 Louise Daugherty Source NHS GMS was added to IL6.
Cerebral vascular malformations v1.65 HTRA1 Louise Daugherty Source NHS GMS was added to HTRA1.
Cerebral vascular malformations v1.65 HLA-DRB1 Louise Daugherty Source NHS GMS was added to HLA-DRB1.
Cerebral vascular malformations v1.65 HLA-DQB1 Louise Daugherty Source NHS GMS was added to HLA-DQB1.
Cerebral vascular malformations v1.65 HLA-B Louise Daugherty Source NHS GMS was added to HLA-B.
Cerebral vascular malformations v1.65 GNAQ Louise Daugherty Source NHS GMS was added to GNAQ.
Cerebral vascular malformations v1.65 GLMN Louise Daugherty Source NHS GMS was added to GLMN.
Cerebral vascular malformations v1.65 GLA Louise Daugherty Source NHS GMS was added to GLA.
Cerebral vascular malformations v1.65 FOXF1 Louise Daugherty Source NHS GMS was added to FOXF1.
Cerebral vascular malformations v1.65 FLT4 Louise Daugherty Source NHS GMS was added to FLT4.
Cerebral vascular malformations v1.65 FBN1 Louise Daugherty Source NHS GMS was added to FBN1.
Cerebral vascular malformations v1.65 DNA2 Louise Daugherty Source NHS GMS was added to DNA2.
Cerebral vascular malformations v1.65 DCX Louise Daugherty Source NHS GMS was added to DCX.
Cerebral vascular malformations v1.65 CTSA Louise Daugherty Source NHS GMS was added to CTSA.
Cerebral vascular malformations v1.65 CRB1 Louise Daugherty Source NHS GMS was added to CRB1.
Cerebral vascular malformations v1.65 COL4A2 Louise Daugherty Source NHS GMS was added to COL4A2.
Cerebral vascular malformations v1.65 COL4A1 Louise Daugherty Source NHS GMS was added to COL4A1.
Cerebral vascular malformations v1.65 CEP63 Louise Daugherty Source NHS GMS was added to CEP63.
Cerebral vascular malformations v1.65 CENPJ Louise Daugherty Source NHS GMS was added to CENPJ.
Cerebral vascular malformations v1.65 BRCC3 Louise Daugherty Source NHS GMS was added to BRCC3.
Cerebral vascular malformations v1.65 ATP7A Louise Daugherty Source NHS GMS was added to ATP7A.
Cerebral vascular malformations v1.65 ARX Louise Daugherty Source NHS GMS was added to ARX.
Cerebral vascular malformations v1.65 ANTXR1 Louise Daugherty Source NHS GMS was added to ANTXR1.
Cerebral vascular malformations v1.65 ADGRG1 Louise Daugherty Source NHS GMS was added to ADGRG1.
Cerebral vascular malformations v1.65 ACE Louise Daugherty Source NHS GMS was added to ACE.
Cerebral vascular malformations v1.65 ABCC6 Louise Daugherty Source NHS GMS was added to ABCC6.
Cerebral vascular malformations v1.65 SMAD9 Louise Daugherty Source NHS GMS was added to SMAD9.
Cerebral vascular malformations v1.65 MRVI1 Louise Daugherty Source NHS GMS was added to MRVI1.
Cerebral vascular malformations v1.65 GDF2 Louise Daugherty Source NHS GMS was added to GDF2.
Cerebral vascular malformations v1.65 EPHB4 Louise Daugherty Source NHS GMS was added to EPHB4.
Cerebral vascular malformations v1.65 YY1AP1 Louise Daugherty Source NHS GMS was added to YY1AP1.
Cerebral vascular malformations v1.65 THSD1 Louise Daugherty Source NHS GMS was added to THSD1.
Cerebral vascular malformations v1.65 TGFBR2 Louise Daugherty Source NHS GMS was added to TGFBR2.
Cerebral vascular malformations v1.65 TGFBR1 Louise Daugherty Source NHS GMS was added to TGFBR1.
Cerebral vascular malformations v1.65 TGFB2 Louise Daugherty Source NHS GMS was added to TGFB2.
Cerebral vascular malformations v1.65 SMAD4 Louise Daugherty Source NHS GMS was added to SMAD4.
Cerebral vascular malformations v1.65 SMAD3 Louise Daugherty Source NHS GMS was added to SMAD3.
Cerebral vascular malformations v1.65 SLC2A10 Louise Daugherty Source NHS GMS was added to SLC2A10.
Cerebral vascular malformations v1.65 SAMHD1 Louise Daugherty Source NHS GMS was added to SAMHD1.
Cerebral vascular malformations v1.65 RASA1 Louise Daugherty Source NHS GMS was added to RASA1.
Cerebral vascular malformations v1.65 PKD2 Louise Daugherty Source NHS GMS was added to PKD2.
Cerebral vascular malformations v1.65 PKD1 Louise Daugherty Source NHS GMS was added to PKD1.
Cerebral vascular malformations v1.65 PDCD10 Louise Daugherty Source NHS GMS was added to PDCD10.
Cerebral vascular malformations v1.65 PCNT Louise Daugherty Source NHS GMS was added to PCNT.
Cerebral vascular malformations v1.65 NOTCH3 Louise Daugherty Source NHS GMS was added to NOTCH3.
Cerebral vascular malformations v1.65 NF1 Louise Daugherty Source NHS GMS was added to NF1.
Cerebral vascular malformations v1.65 MYH11 Louise Daugherty Source NHS GMS was added to MYH11.
Cerebral vascular malformations v1.65 KRIT1 Louise Daugherty Source NHS GMS was added to KRIT1.
Cerebral vascular malformations v1.65 JAG1 Louise Daugherty Source NHS GMS was added to JAG1.
Cerebral vascular malformations v1.65 HBB Louise Daugherty Source NHS GMS was added to HBB.
Cerebral vascular malformations v1.65 GUCY1A3 Louise Daugherty Source NHS GMS was added to GUCY1A3.
Cerebral vascular malformations v1.65 FLVCR2 Louise Daugherty Source NHS GMS was added to FLVCR2.
Cerebral vascular malformations v1.65 ENG Louise Daugherty Source NHS GMS was added to ENG.
Cerebral vascular malformations v1.65 ELN Louise Daugherty Source NHS GMS was added to ELN.
Cerebral vascular malformations v1.65 COL3A1 Louise Daugherty Source NHS GMS was added to COL3A1.
Cerebral vascular malformations v1.65 CEP152 Louise Daugherty Source NHS GMS was added to CEP152.
Cerebral vascular malformations v1.65 CCM2 Louise Daugherty Source NHS GMS was added to CCM2.
Cerebral vascular malformations v1.65 CBL Louise Daugherty Source NHS GMS was added to CBL.
Cerebral vascular malformations v1.65 ATR Louise Daugherty Source NHS GMS was added to ATR.
Cerebral vascular malformations v1.65 ADA2 Louise Daugherty Source NHS GMS was added to ADA2.
Cerebral vascular malformations v1.65 ACVRL1 Louise Daugherty Source NHS GMS was added to ACVRL1.
Cerebral vascular malformations v1.65 ACTA2 Louise Daugherty Source NHS GMS was added to ACTA2.
Cerebral vascular malformations v1.64 MYH11 Louise Daugherty Classified gene: MYH11 as Amber List (moderate evidence)
Cerebral vascular malformations v1.64 MYH11 Louise Daugherty Gene: myh11 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v1.63 MYH11 Louise Daugherty changed review comment from: Comment on list classification: Changed rating from Red to Green - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations; to: Comment on list classification: Changed rating to Amber - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations. This was a new gene recommended to be rated as Green but after further clinical expert it was decided to rate as Amber until there was sufficient evidence
Cerebral vascular malformations v1.63 MYH11 Louise Daugherty changed review comment from: New gene rated Green - deemed relevant to the GMS panel R336 Cerebral vascular malformations; to: New gene rated Amber - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.63 MYH11 Louise Daugherty edited their review of gene: MYH11: Changed rating: AMBER
Cerebral vascular malformations v1.63 MYH11 Louise Daugherty Classified gene: MYH11 as No list
Cerebral vascular malformations v1.63 MYH11 Louise Daugherty Gene: myh11 has been removed from the panel.
Cerebral vascular malformations v1.62 SMAD9 Louise Daugherty Classified gene: SMAD9 as Amber List (moderate evidence)
Cerebral vascular malformations v1.62 SMAD9 Louise Daugherty Gene: smad9 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v1.61 SMAD9 Louise Daugherty commented on gene: SMAD9: New gene rated Amber- deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.61 SMAD9 Louise Daugherty gene: SMAD9 was added
gene: SMAD9 was added to Cerebral vascular malformations. Sources: Expert list
Mode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: SMAD9 was set to AMBER
Added comment: Review from clinical expert (Vijeya Ganesan: GOSH / ICH): consider for this panel. GEL clinical team (Helen Brittain) Review of PMID 29844917 suggests one case with cerebral AVMs and a supportive animal model - currently rated amber pending further evidence
Sources: Expert list
Cerebral vascular malformations v1.60 EPHB4 Louise Daugherty Classified gene: EPHB4 as Amber List (moderate evidence)
Cerebral vascular malformations v1.60 EPHB4 Louise Daugherty Added comment: Comment on list classification: New Amber gene - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.60 EPHB4 Louise Daugherty Gene: ephb4 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v1.59 EPHB4 Louise Daugherty commented on gene: EPHB4: New gene rated Amber - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.59 EPHB4 Louise Daugherty gene: EPHB4 was added
gene: EPHB4 was added to Cerebral vascular malformations. Sources: Expert list
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
Review for gene: EPHB4 was set to AMBER
Added comment: Review from clinical expert (Vijeya Ganesan: GOSH / ICH): consider for this panel. GEL clinical team (Helen Brittain) Review of PMID 28687708 suggests that 3/110 patients had CNS lesions - therefore rated as amber pending further evidence
Sources: Expert list
Cerebral vascular malformations v1.58 MRVI1 Louise Daugherty commented on gene: MRVI1: New gene rated Amber - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.58 YY1AP1 Louise Daugherty commented on gene: YY1AP1: New gene rated Green - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.58 CBL Louise Daugherty commented on gene: CBL: New gene rated Green - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.58 MYH11 Louise Daugherty commented on gene: MYH11: New gene rated Green - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.58 CTSA Louise Daugherty commented on gene: CTSA: New gene rated Red - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.58 MRVI1 Louise Daugherty Classified gene: MRVI1 as Amber List (moderate evidence)
Cerebral vascular malformations v1.58 MRVI1 Louise Daugherty Added comment: Comment on list classification: New gene rated Amber- this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.58 MRVI1 Louise Daugherty Gene: mrvi1 has been classified as Amber List (Moderate Evidence).
Cerebral vascular malformations v1.57 MRVI1 Louise Daugherty gene: MRVI1 was added
gene: MRVI1 was added to Cerebral vascular malformations. Sources: Expert list
Mode of inheritance for gene: MRVI1 was set to Unknown
Review for gene: MRVI1 was set to AMBER
Added comment: Review from clinical expert (Vijeya Ganesan: GOSH / ICH): evidence emerging of potential risk factor for Moya-Moya within NF1 patients.
Sources: Expert list
Cerebral vascular malformations v1.56 YY1AP1 Louise Daugherty Classified gene: YY1AP1 as Green List (high evidence)
Cerebral vascular malformations v1.56 YY1AP1 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.56 YY1AP1 Louise Daugherty Gene: yy1ap1 has been classified as Green List (High Evidence).
Cerebral vascular malformations v1.55 YY1AP1 Louise Daugherty gene: YY1AP1 was added
gene: YY1AP1 was added to Cerebral vascular malformations. Sources: Expert list
Mode of inheritance for gene: YY1AP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: YY1AP1 were set to Grange syndrome, 602531
Review for gene: YY1AP1 was set to GREEN
Added comment: Review from clinical expert (Vijeya Ganesan: GOSH / ICH): considered relevant for this panel.
Sources: Expert list
Cerebral vascular malformations v1.54 CBL Louise Daugherty Classified gene: CBL as Green List (high evidence)
Cerebral vascular malformations v1.54 CBL Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.54 CBL Louise Daugherty Gene: cbl has been classified as Green List (High Evidence).
Cerebral vascular malformations v1.53 CBL Louise Daugherty reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cerebral vascular malformations v1.53 CBL Louise Daugherty Phenotypes for gene: CBL were changed from early-onset moyamoya angiopathy to early-onset moyamoya angiopathy; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563
Cerebral vascular malformations v1.52 MYH11 Louise Daugherty Classified gene: MYH11 as Green List (high evidence)
Cerebral vascular malformations v1.52 MYH11 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Green - this gene was deemed relevant to the GMS panel R336 Cerebral vascular malformations
Cerebral vascular malformations v1.52 MYH11 Louise Daugherty Gene: myh11 has been classified as Green List (High Evidence).
Cerebral vascular malformations v1.51 MYH11 Louise Daugherty edited their review of gene: MYH11: Added comment: Review from clinical expert (Vijeya Ganesan: GOSH / ICH): multi-system vascular disease, green rating.; Changed rating: GREEN
Cerebral vascular malformations v1.51 MYH11 Louise Daugherty Phenotypes for gene: MYH11 were changed from moyamoya-like angiopathy to moyamoya-like angiopath; Aortic aneurysm, familial thoracic 4, 132900
Cerebral vascular malformations v1.50 MYH11 Louise Daugherty Classified gene: MYH11 as Red List (low evidence)
Cerebral vascular malformations v1.50 MYH11 Louise Daugherty Added comment: Comment on list classification: added gene back to panel due to recent update as part of the GMS
Cerebral vascular malformations v1.50 MYH11 Louise Daugherty Gene: myh11 has been classified as Red List (Low Evidence).
Cerebral vascular malformations v1.49 CTSA Louise Daugherty gene: CTSA was added
gene: CTSA was added to Cerebral vascular malformations. Sources: Expert list
Mode of inheritance for gene: CTSA was set to Unknown
Review for gene: CTSA was set to RED
Added comment: Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain) - red in view of lack of a relevant phenotype for this panel
Sources: Expert list
Cerebral vascular malformations v1.48 Louise Daugherty List of related panels changed from Cerebrovascular disorders; Vein of Galen malformation; Cerebral arteriovenous malformations; Moyamoya disease to Cerebrovascular disorders; Vein of Galen malformation; Cerebral arteriovenous malformations; Moyamoya disease; R336
Cerebral vascular malformations v1.47 CEP63 Louise Daugherty Publications for gene: CEP63 were set to 21983783,
Cerebral vascular malformations v1.46 SAMHD1 Louise Daugherty Publications for gene: SAMHD1 were set to 21402907, ]]20653736
Cerebral vascular malformations v1.45 SAMHD1 Louise Daugherty Publications for gene: SAMHD1 were set to 21402907, ]]20653736
Cerebral vascular malformations v1.44 SAMHD1 Louise Daugherty Publications for gene: SAMHD1 were set to 21402907, ]]20653736
Cerebral vascular malformations v1.44 SAMHD1 Louise Daugherty Publications for gene: SAMHD1 were set to 21402907, 20653736
Cerebral vascular malformations v1.43 PDCD10 Louise Daugherty Publications for gene: PDCD10 were set to 20301470, 15543491
Cerebral vascular malformations v1.42 NOTCH3 Louise Daugherty Publications for gene: NOTCH3 were set to 8878478, 20301673
Cerebral vascular malformations v1.41 KRIT1 Louise Daugherty Publications for gene: KRIT1 were set to 10508515, 20301470
Cerebral vascular malformations v1.40 GUCY1A3 Louise Daugherty Publications for gene: GUCY1A3 were set to 24581742, 26777256
Cerebral vascular malformations v1.39 CCM2 Louise Daugherty Publications for gene: CCM2 were set to 20301470, 14624391
Cerebral vascular malformations v1.38 PKD1 Louise Daugherty Added comment: Comment on mode of inheritance: As a result of updating the mode of inheritance for PKD1 from monoallelic > TO> BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal by PanelApp curation team for renal panels, it was flagged with clinical team about other non-renal panels and it was decided that it also applied to the Cerebral vascular malformation panel
Cerebral vascular malformations v1.38 PKD1 Louise Daugherty Mode of inheritance for gene: PKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebral vascular malformations v1.36 GUCY1A3 Louise Daugherty commented on gene: GUCY1A3
Cerebral vascular malformations v1.36 GUCY1A3 Louise Daugherty Tag new-gene-name tag was added to gene: GUCY1A3.
Cerebral vascular malformations v1.36 MYH11 Andrey Gagunashvili gene: MYH11 was added
gene: MYH11 was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH11 were set to 29263223; 16444274
Phenotypes for gene: MYH11 were set to moyamoya-like angiopathy
Penetrance for gene: MYH11 were set to unknown
Review for gene: MYH11 was set to RED
Added comment: Sources: Literature
Cerebral vascular malformations v1.36 CBL Andrey Gagunashvili gene: CBL was added
gene: CBL was added to Cerebral vascular malformations. Sources: Literature,Research
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CBL were set to 28343148; 25283271
Phenotypes for gene: CBL were set to early-onset moyamoya angiopathy
Penetrance for gene: CBL were set to Complete
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
Review for gene: CBL was set to GREEN
Added comment: The addition of the CBL gene is supported by two publication as well as personal observations of the submitter
Sources: Literature, Research
Cerebral vascular malformations v1.35 Ellen McDonagh Panel name changed from Cerebrovascular disorders to Cerebral vascular malformations
List of related panels changed from Vein of Galen malformation; Cerebral vascular malformations; Cerebral arteriovenous malformations; Moyamoya disease to Cerebrovascular disorders; Vein of Galen malformation; Cerebral arteriovenous malformations; Moyamoya disease
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Cerebral vascular malformations HBB Ellen McDonagh edited their review of HBB
Cerebral vascular malformations TMEM5 Louise Daugherty commented on TMEM5
Cerebral vascular malformations MYMY1 Louise Daugherty classified MYMY1 as grey
Cerebral vascular malformations MYMY1 Louise Daugherty commented on MYMY1
Cerebral vascular malformations MYMY3 Louise Daugherty classified MYMY3 as grey
Cerebral vascular malformations MYMY3 Louise Daugherty commented on MYMY3
Cerebral vascular malformations ANIB1 Louise Daugherty classified ANIB1 as grey
Cerebral vascular malformations ANIB1 Louise Daugherty commented on ANIB1
Cerebral vascular malformations CECR1 Louise Daugherty commented on CECR1
Cerebral vascular malformations MYMY3 Ellen McDonagh commented on MYMY3
Cerebral vascular malformations MYMY1 Ellen McDonagh commented on MYMY1
Cerebral vascular malformations ANIB1 Ellen McDonagh commented on ANIB1
Cerebral vascular malformations Alice Gardham promoted panel to version 1
Cerebral vascular malformations RNF213 Ellen Thomas marked RNF213 as ready
Cerebral vascular malformations GNAQ Ellen Thomas marked GNAQ as ready
Cerebral vascular malformations ELN Ellen Thomas marked ELN as ready
Cerebral vascular malformations ELN Ellen Thomas classified ELN as green
Cerebral vascular malformations ELN Ellen Thomas commented on ELN
Cerebral vascular malformations CECR1 Ellen Thomas marked CECR1 as ready
Cerebral vascular malformations CECR1 Ellen Thomas classified CECR1 as green
Cerebral vascular malformations CECR1 Ellen Thomas commented on CECR1
Cerebral vascular malformations SLC2A10 Ellen Thomas marked SLC2A10 as ready
Cerebral vascular malformations SLC2A10 Ellen Thomas classified SLC2A10 as green
Cerebral vascular malformations SLC2A10 Ellen Thomas commented on SLC2A10
Cerebral vascular malformations GDF2 Ellen Thomas classified GDF2 as amber
Cerebral vascular malformations GDF2 Ellen Thomas commented on GDF2
Cerebral vascular malformations FLVCR2 Ellen Thomas marked FLVCR2 as ready
Cerebral vascular malformations FLVCR2 Ellen Thomas classified FLVCR2 as green
Cerebral vascular malformations FLVCR2 Ellen Thomas commented on FLVCR2
Cerebral vascular malformations THSD1 Alice Gardham marked THSD1 as ready
Cerebral vascular malformations THSD1 Alice Gardham classified THSD1 as green
Cerebral vascular malformations THSD1 Alice Gardham commented on THSD1
Cerebral vascular malformations FBN1 Alice Gardham marked FBN1 as ready
Cerebral vascular malformations FBN1 Alice Gardham added FBN1 to panel
Cerebral vascular malformations FBN1 Alice Gardham reviewed FBN1
Cerebral vascular malformations COL3A1 Alice Gardham marked COL3A1 as ready
Cerebral vascular malformations COL3A1 Alice Gardham classified COL3A1 as green
Cerebral vascular malformations TGFB2 Alice Gardham marked TGFB2 as ready
Cerebral vascular malformations TGFBR2 Alice Gardham marked TGFBR2 as ready
Cerebral vascular malformations TGFBR1 Alice Gardham marked TGFBR1 as ready
Cerebral vascular malformations SMAD3 Alice Gardham marked SMAD3 as ready
Cerebral vascular malformations HBB Alice Gardham marked HBB as ready
Cerebral vascular malformations TRAIP Alice Gardham marked TRAIP as ready
Cerebral vascular malformations RBBP8 Alice Gardham marked RBBP8 as ready
Cerebral vascular malformations NIN Alice Gardham marked NIN as ready
Cerebral vascular malformations DNA2 Alice Gardham marked DNA2 as ready
Cerebral vascular malformations CEP63 Alice Gardham marked CEP63 as ready
Cerebral vascular malformations CEP152 Alice Gardham marked CEP152 as ready
Cerebral vascular malformations CENPJ Alice Gardham marked CENPJ as ready
Cerebral vascular malformations CENPJ Alice Gardham classified CENPJ as red
Cerebral vascular malformations ATR Alice Gardham marked ATR as ready
Cerebral vascular malformations ATR Alice Gardham classified ATR as green
Cerebral vascular malformations TRAIP Alice Gardham added TRAIP to panel
Cerebral vascular malformations TRAIP Alice Gardham reviewed TRAIP
Cerebral vascular malformations DNA2 Alice Gardham added DNA2 to panel
Cerebral vascular malformations DNA2 Alice Gardham reviewed DNA2
Cerebral vascular malformations NIN Alice Gardham added NIN to panel
Cerebral vascular malformations NIN Alice Gardham reviewed NIN
Cerebral vascular malformations CEP63 Alice Gardham added CEP63 to panel
Cerebral vascular malformations CEP63 Alice Gardham reviewed CEP63
Cerebral vascular malformations CEP152 Alice Gardham added CEP152 to panel
Cerebral vascular malformations CEP152 Alice Gardham reviewed CEP152
Cerebral vascular malformations CENPJ Alice Gardham added CENPJ to panel
Cerebral vascular malformations CENPJ Alice Gardham reviewed CENPJ
Cerebral vascular malformations RBBP8 Alice Gardham added RBBP8 to panel
Cerebral vascular malformations RBBP8 Alice Gardham reviewed RBBP8
Cerebral vascular malformations ATR Alice Gardham added ATR to panel
Cerebral vascular malformations ATR Alice Gardham reviewed ATR
Cerebral vascular malformations TGFB2 Alice Gardham added TGFB2 to panel
Cerebral vascular malformations TGFB2 Alice Gardham reviewed TGFB2
Cerebral vascular malformations SMAD3 Alice Gardham added SMAD3 to panel
Cerebral vascular malformations SMAD3 Alice Gardham reviewed SMAD3
Cerebral vascular malformations TGFBR2 Alice Gardham added TGFBR2 to panel
Cerebral vascular malformations TGFBR2 Alice Gardham reviewed TGFBR2
Cerebral vascular malformations TGFBR1 Alice Gardham added TGFBR1 to panel
Cerebral vascular malformations TGFBR1 Alice Gardham reviewed TGFBR1
Cerebral vascular malformations SMARCAL1 Alice Gardham marked SMARCAL1 as ready
Cerebral vascular malformations SMARCAL1 Alice Gardham classified SMARCAL1 as red
Cerebral vascular malformations SMARCAL1 Alice Gardham added SMARCAL1 to panel
Cerebral vascular malformations SMARCAL1 Alice Gardham reviewed SMARCAL1
Cerebral vascular malformations SLC2A10 Ellen McDonagh reviewed SLC2A10
Cerebral vascular malformations COL3A1 Alice Gardham added COL3A1 to panel
Cerebral vascular malformations COL3A1 Alice Gardham reviewed COL3A1
Cerebral vascular malformations FLVCR2 Ellen McDonagh reviewed FLVCR2
Cerebral vascular malformations CECR1 Alice Gardham added CECR1 to panel
Cerebral vascular malformations CECR1 Alice Gardham reviewed CECR1
Cerebral vascular malformations HBB Ellen McDonagh reviewed HBB
Cerebral vascular malformations PKD2 Alice Gardham marked PKD2 as ready
Cerebral vascular malformations PKD2 Alice Gardham marked PKD2 as ready
Cerebral vascular malformations PKD2 Alice Gardham added PKD2 to panel
Cerebral vascular malformations PKD2 Alice Gardham reviewed PKD2
Cerebral vascular malformations PKD1 Alice Gardham marked PKD1 as ready
Cerebral vascular malformations PKD1 Alice Gardham classified PKD1 as green
Cerebral vascular malformations PKD1 Alice Gardham classified PKD1 as green
Cerebral vascular malformations PKD1 Alice Gardham added PKD1 to panel
Cerebral vascular malformations PKD1 Alice Gardham reviewed PKD1
Cerebral vascular malformations ACVRL1 Alice Gardham marked ACVRL1 as ready
Cerebral vascular malformations ACVRL1 Alice Gardham added ACVRL1 to panel
Cerebral vascular malformations ACVRL1 Alice Gardham reviewed ACVRL1
Cerebral vascular malformations GDF2 Alice Gardham classified GDF2 as amber
Cerebral vascular malformations SMAD4 Alice Gardham marked SMAD4 as ready
Cerebral vascular malformations SMAD4 Alice Gardham added SMAD4 to panel
Cerebral vascular malformations SMAD4 Alice Gardham reviewed SMAD4
Cerebral vascular malformations GDF2 Alice Gardham marked GDF2 as ready
Cerebral vascular malformations GDF2 Alice Gardham added GDF2 to panel
Cerebral vascular malformations GDF2 Alice Gardham reviewed GDF2
Cerebral vascular malformations HBB Alice Gardham classified HBB as green
Cerebral vascular malformations HBB Alice Gardham classified HBB as amber
Cerebral vascular malformations HBB Alice Gardham classified HBB as amber
Cerebral vascular malformations SLC2A10 Alice Gardham classified SLC2A10 as amber
Cerebral vascular malformations SLC2A10 Alice Gardham reviewed SLC2A10
Cerebral vascular malformations SAMHD1 Alice Gardham marked SAMHD1 as ready
Cerebral vascular malformations SAMHD1 Alice Gardham classified SAMHD1 as green
Cerebral vascular malformations SAMHD1 Alice Gardham commented on SAMHD1
Cerebral vascular malformations SAMHD1 Alice Gardham commented on SAMHD1
Cerebral vascular malformations SAMHD1 Alice Gardham edited their review of SAMHD1
Cerebral vascular malformations SAMHD1 Alice Gardham reviewed SAMHD1
Cerebral vascular malformations THSD1 Ellen McDonagh commented on THSD1
Cerebral vascular malformations THSD1 Ellen McDonagh added THSD1 to panel
Cerebral vascular malformations THSD1 Ellen McDonagh reviewed THSD1
Cerebral vascular malformations RNF213 Alice Gardham reviewed RNF213
Cerebral vascular malformations HBB Alice Gardham marked HBB as ready
Cerebral vascular malformations COL4A1 Alice Gardham marked COL4A1 as ready
Cerebral vascular malformations ACTA2 Alice Gardham marked ACTA2 as ready
Cerebral vascular malformations HBB Alice Gardham classified HBB as red
Cerebral vascular malformations GUCY1A3 Alice Gardham marked GUCY1A3 as ready
Cerebral vascular malformations PTEN Alice Gardham marked PTEN as ready
Cerebral vascular malformations PTEN Alice Gardham reviewed PTEN
Cerebral vascular malformations PCNT Alice Gardham marked PCNT as ready
Cerebral vascular malformations PCNT Alice Gardham classified PCNT as green
Cerebral vascular malformations PCNT Alice Gardham reviewed PCNT
Cerebral vascular malformations NF1 Alice Gardham marked NF1 as ready
Cerebral vascular malformations NF1 Alice Gardham classified NF1 as green
Cerebral vascular malformations NF1 Alice Gardham reviewed NF1
Cerebral vascular malformations MYMY3 Alice Gardham marked MYMY3 as ready
Cerebral vascular malformations MYMY3 Alice Gardham reviewed MYMY3
Cerebral vascular malformations MYMY1 Alice Gardham marked MYMY1 as ready
Cerebral vascular malformations MYMY1 Alice Gardham reviewed MYMY1
Cerebral vascular malformations KDR Alice Gardham marked KDR as ready
Cerebral vascular malformations KDR Alice Gardham reviewed KDR
Cerebral vascular malformations JAG1 Alice Gardham marked JAG1 as ready
Cerebral vascular malformations JAG1 Alice Gardham classified JAG1 as green
Cerebral vascular malformations JAG1 Alice Gardham reviewed JAG1
Cerebral vascular malformations IL6 Alice Gardham marked IL6 as ready
Cerebral vascular malformations IL6 Alice Gardham reviewed IL6
Cerebral vascular malformations HTRA1 Alice Gardham marked HTRA1 as ready
Cerebral vascular malformations HTRA1 Alice Gardham reviewed HTRA1
Cerebral vascular malformations HLA-DRB1 Alice Gardham marked HLA-DRB1 as ready
Cerebral vascular malformations HLA-DRB1 Alice Gardham commented on HLA-DRB1
Cerebral vascular malformations HLA-DQB1 Alice Gardham marked HLA-DQB1 as ready
Cerebral vascular malformations HLA-DQB1 Alice Gardham commented on HLA-DQB1
Cerebral vascular malformations HLA-B Alice Gardham marked HLA-B as ready
Cerebral vascular malformations HLA-B Alice Gardham reviewed HLA-B
Cerebral vascular malformations GNAQ Alice Gardham reviewed GNAQ
Cerebral vascular malformations GLA Alice Gardham marked GLA as ready
Cerebral vascular malformations GLA Alice Gardham reviewed GLA
Cerebral vascular malformations FLVCR2 Alice Gardham reviewed FLVCR2
Cerebral vascular malformations FLT4 Alice Gardham marked FLT4 as ready
Cerebral vascular malformations FLT4 Alice Gardham reviewed FLT4
Cerebral vascular malformations ENG Alice Gardham marked ENG as ready
Cerebral vascular malformations ENG Alice Gardham classified ENG as green
Cerebral vascular malformations ENG Alice Gardham reviewed ENG
Cerebral vascular malformations ELN Alice Gardham reviewed ELN
Cerebral vascular malformations CRB1 Alice Gardham marked CRB1 as ready
Cerebral vascular malformations CRB1 Alice Gardham reviewed CRB1
Cerebral vascular malformations COL4A2 Alice Gardham marked COL4A2 as ready
Cerebral vascular malformations COL4A2 Alice Gardham reviewed COL4A2
Cerebral vascular malformations ATP7A Alice Gardham marked ATP7A as ready
Cerebral vascular malformations ATP7A Alice Gardham reviewed ATP7A
Cerebral vascular malformations ANTXR1 Alice Gardham marked ANTXR1 as ready
Cerebral vascular malformations ANTXR1 Alice Gardham reviewed ANTXR1
Cerebral vascular malformations ANIB1 Alice Gardham marked ANIB1 as ready
Cerebral vascular malformations ANIB1 Alice Gardham reviewed ANIB1
Cerebral vascular malformations ACE Alice Gardham marked ACE as ready
Cerebral vascular malformations ACE Alice Gardham reviewed ACE
Cerebral vascular malformations ABCC6 Alice Gardham marked ABCC6 as ready
Cerebral vascular malformations ABCC6 Alice Gardham reviewed ABCC6
Cerebral vascular malformations TEK Alice Gardham marked TEK as ready
Cerebral vascular malformations TEK Alice Gardham classified TEK as red
Cerebral vascular malformations TEK Alice Gardham reviewed TEK
Cerebral vascular malformations COL4A1 Alice Gardham classified COL4A1 as red
Cerebral vascular malformations COL4A1 Alice Gardham reviewed COL4A1
Cerebral vascular malformations STAMBP Alice Gardham marked STAMBP as ready
Cerebral vascular malformations STAMBP Alice Gardham reviewed STAMBP
Cerebral vascular malformations SRPX2 Alice Gardham marked SRPX2 as ready
Cerebral vascular malformations SRPX2 Alice Gardham reviewed SRPX2
Cerebral vascular malformations WDR62 Alice Gardham marked WDR62 as ready
Cerebral vascular malformations WDR62 Alice Gardham reviewed WDR62
Cerebral vascular malformations VLDLR Alice Gardham marked VLDLR as ready
Cerebral vascular malformations VLDLR Alice Gardham reviewed VLDLR
Cerebral vascular malformations RTTN Alice Gardham marked RTTN as ready
Cerebral vascular malformations RTTN Alice Gardham commented on RTTN
Cerebral vascular malformations RTTN Alice Gardham commented on RTTN
Cerebral vascular malformations RTTN Alice Gardham reviewed RTTN
Cerebral vascular malformations PIK3R2 Alice Gardham marked PIK3R2 as ready
Cerebral vascular malformations PIK3R2 Alice Gardham reviewed PIK3R2
Cerebral vascular malformations PAFAH1B1 Alice Gardham marked PAFAH1B1 as ready
Cerebral vascular malformations PAFAH1B1 Alice Gardham reviewed PAFAH1B1
Cerebral vascular malformations OPHN1 Alice Gardham marked OPHN1 as ready
Cerebral vascular malformations OPHN1 Alice Gardham reviewed OPHN1
Cerebral vascular malformations OCLN Alice Gardham marked OCLN as ready
Cerebral vascular malformations OCLN Alice Gardham reviewed OCLN
Cerebral vascular malformations NDE1 Alice Gardham marked NDE1 as ready
Cerebral vascular malformations NDE1 Alice Gardham reviewed NDE1
Cerebral vascular malformations DCX Alice Gardham marked DCX as ready
Cerebral vascular malformations DCX Alice Gardham reviewed DCX
Cerebral vascular malformations ADGRG1 Alice Gardham marked ADGRG1 as ready
Cerebral vascular malformations ADGRG1 Alice Gardham reviewed ADGRG1
Cerebral vascular malformations ARX Alice Gardham marked ARX as ready
Cerebral vascular malformations ARX Alice Gardham reviewed ARX
Cerebral vascular malformations POMGNT1 Alice Gardham marked POMGNT1 as ready
Cerebral vascular malformations POMGNT1 Alice Gardham commented on POMGNT1
Cerebral vascular malformations POMGNT1 Alice Gardham reviewed POMGNT1
Cerebral vascular malformations LARGE Alice Gardham marked LARGE as ready
Cerebral vascular malformations LARGE Alice Gardham reviewed LARGE
Cerebral vascular malformations LAMC3 Alice Gardham marked LAMC3 as ready
Cerebral vascular malformations LAMC3 Alice Gardham reviewed LAMC3
Cerebral vascular malformations LAMB1 Alice Gardham marked LAMB1 as ready
Cerebral vascular malformations LAMB1 Alice Gardham reviewed LAMB1
Cerebral vascular malformations RELN Alice Gardham marked RELN as ready
Cerebral vascular malformations RELN Alice Gardham reviewed RELN
Cerebral vascular malformations TMEM5 Alice Gardham marked TMEM5 as ready
Cerebral vascular malformations TMEM5 Alice Gardham reviewed TMEM5
Cerebral vascular malformations POMT2 Alice Gardham marked POMT2 as ready
Cerebral vascular malformations POMT2 Alice Gardham reviewed POMT2
Cerebral vascular malformations POMT1 Alice Gardham marked POMT1 as ready
Cerebral vascular malformations POMT1 Alice Gardham reviewed POMT1
Cerebral vascular malformations TUBG1 Alice Gardham marked TUBG1 as ready
Cerebral vascular malformations TUBG1 Alice Gardham reviewed TUBG1
Cerebral vascular malformations TUBB3 Alice Gardham marked TUBB3 as ready
Cerebral vascular malformations TUBB3 Alice Gardham reviewed TUBB3
Cerebral vascular malformations TUBA8 Alice Gardham marked TUBA8 as ready
Cerebral vascular malformations TUBA8 Alice Gardham reviewed TUBA8
Cerebral vascular malformations TUBA1A Alice Gardham marked TUBA1A as ready
Cerebral vascular malformations TUBA1A Alice Gardham reviewed TUBA1A
Cerebral vascular malformations TUBB2B Alice Gardham marked TUBB2B as ready
Cerebral vascular malformations TUBB2B Alice Gardham reviewed TUBB2B
Cerebral vascular malformations TUBB2A Alice Gardham marked TUBB2A as ready
Cerebral vascular malformations TUBB2A Alice Gardham reviewed TUBB2A
Cerebral vascular malformations TUBB Alice Gardham marked TUBB as ready
Cerebral vascular malformations TUBB Alice Gardham reviewed TUBB
Cerebral vascular malformations PIK3CA Alice Gardham marked PIK3CA as ready
Cerebral vascular malformations PIK3CA Alice Gardham classified PIK3CA as red
Cerebral vascular malformations PIK3CA Alice Gardham reviewed PIK3CA
Cerebral vascular malformations GLMN Alice Gardham marked GLMN as ready
Cerebral vascular malformations GLMN Alice Gardham classified GLMN as red
Cerebral vascular malformations GLMN Alice Gardham reviewed GLMN
Cerebral vascular malformations FOXF1 Alice Gardham marked FOXF1 as ready
Cerebral vascular malformations FOXF1 Alice Gardham classified FOXF1 as red
Cerebral vascular malformations FOXF1 Alice Gardham commented on FOXF1
Cerebral vascular malformations COL4A1 Alice Gardham marked COL4A1 as ready
Cerebral vascular malformations COL4A1 Alice Gardham classified COL4A1 as green
Cerebral vascular malformations COL4A1 Alice Gardham reviewed COL4A1
Cerebral vascular malformations CCM2 Alice Gardham marked CCM2 as ready
Cerebral vascular malformations CCM2 Alice Gardham classified CCM2 as green
Cerebral vascular malformations CCM2 Alice Gardham reviewed CCM2
Cerebral vascular malformations RASA1 Alice Gardham marked RASA1 as ready
Cerebral vascular malformations RASA1 Alice Gardham reviewed RASA1
Cerebral vascular malformations PDCD10 Alice Gardham marked PDCD10 as ready
Cerebral vascular malformations PDCD10 Alice Gardham reviewed PDCD10
Cerebral vascular malformations MEF2C Alice Gardham marked MEF2C as ready
Cerebral vascular malformations MEF2C Alice Gardham classified MEF2C as red
Cerebral vascular malformations MEF2C Alice Gardham commented on MEF2C
Cerebral vascular malformations KRIT1 Alice Gardham marked KRIT1 as ready
Cerebral vascular malformations KRIT1 Alice Gardham reviewed KRIT1
Cerebral vascular malformations LARGE Louise Daugherty commented on LARGE
Cerebral vascular malformations ADGRG1 Ellen McDonagh commented on ADGRG1
Cerebral vascular malformations LARGE Ellen McDonagh commented on LARGE
Cerebral vascular malformations HBB Alice Gardham added HBB to panel
Cerebral vascular malformations HBB Alice Gardham reviewed HBB
Cerebral vascular malformations BRCC3 Alice Gardham marked BRCC3 as ready
Cerebral vascular malformations BRCC3 Alice Gardham reviewed BRCC3
Cerebral vascular malformations GUCY1A3 Alice Gardham classified GUCY1A3 as green
Cerebral vascular malformations GUCY1A3 Alice Gardham reviewed GUCY1A3
Cerebral vascular malformations NOTCH3 Alice Gardham marked NOTCH3 as ready
Cerebral vascular malformations NOTCH3 Alice Gardham classified NOTCH3 as green
Cerebral vascular malformations NOTCH3 Alice Gardham reviewed NOTCH3
Cerebral vascular malformations ACTA2 Alice Gardham classified ACTA2 as green
Cerebral vascular malformations ACTA2 Alice Gardham reviewed ACTA2
Cerebral vascular malformations Ellen McDonagh approved panel