Cerebral vascular malformations
Gene: SETD5The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green.Created: 30 Jan 2023, 4:01 p.m. | Last Modified: 30 Jan 2023, 4:01 p.m.
Panel Version: 2.68
Updating tags to be Q3_22_expert_review and Q3_22_rating so that gene is included in the next GMS report (Oct 2022)Created: 6 Oct 2022, 12:58 p.m. | Last Modified: 6 Oct 2022, 12:58 p.m.
Panel Version: 2.60
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.Created: 11 Oct 2022, 12:37 p.m. | Last Modified: 11 Oct 2022, 1:34 p.m.
Panel Version: 2.63
Comment on phenotypes: Moyamoya disease MONDO:0016820 is not specific to SETD5 variants.Created: 11 Oct 2022, 11:52 a.m. | Last Modified: 11 Oct 2022, 11:52 a.m.
Panel Version: 2.61
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.
Created: 28 Apr 2021, 4:45 p.m. | Last Modified: 29 Jun 2021, 10:52 a.m.
Panel Version: 2.52
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: LiteratureCreated: 9 Dec 2020, 7:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Moya Moya; Mental retardation, autosomal dominant 23, MIM# 615761
Publications
Tag Q3_22_rating was removed from gene: SETD5. Tag Q3_22_expert_review was removed from gene: SETD5.
Tag to_be_confirmed_NHSE tag was added to gene: SETD5.
Tag Q3_22_expert_review tag was added to gene: SETD5.
Tag Q3_22_expert_review was removed from gene: SETD5.
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
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.
Publications for gene: SETD5 were set to 31474762
Gene: setd5 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: SETD5.
Tag Q2_21_expert_review tag was added to gene: SETD5.
Gene: setd5 has been classified as Red List (Low Evidence).
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
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
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