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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 v2.68 SETD5 Eleanor Williams Tag to_be_confirmed_NHSE tag was added to gene: SETD5.
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 v2.63 SETD5 Eleanor Williams Tag Q3_22_expert_review tag was added to gene: SETD5.
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 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 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 v2.61 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 v2.54 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 v2.47 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 v2.43 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 v2.7 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