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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 v2.68 CNOT3 Eleanor Williams Tag to_be_confirmed_NHSE tag was added to gene: CNOT3.
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 v2.63 CNOT3 Eleanor Williams Tag Q3_22_expert_review tag was added to gene: CNOT3.
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 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 CNOT3 Eleanor Williams Tag Q3_22_expert_review was removed from gene: CNOT3.
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 v2.60 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 v2.52 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 v2.44 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 v2.42 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 v2.7 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