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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