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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 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 v4.8 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 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 v3.26 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 v2.68 CBL Eleanor Williams Tag Q3_21_rating was removed from gene: CBL.
Cerebral vascular malformations v2.68 CBL Eleanor Williams commented on gene: CBL
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 v2.25 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 v1.68 CBL Louise Daugherty edited their review of gene: CBL: Changed rating: AMBER
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 CBL Louise Daugherty Source Yorkshire and North East GLH was added to CBL.
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 CBL Louise Daugherty Source NHS GMS was added to CBL.
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 v1.54 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 v1.36 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