Cerebral vascular malformations
Gene: SETD5EnsemblGeneIds (GRCh38): ENSG00000168137
EnsemblGeneIds (GRCh37): ENSG00000168137
OMIM: 615743, Gene2Phenotype
SETD5 is in 8 panels
1 review
Sue White (Victorian Clinical Genetics Services)
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: 27 Nov 2020, 2:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Moya Moya; intellectual disability
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Moya Moya
- Mental retardation, autosomal dominant 23, MIM# 615761
- OMIM
- 615743
- Clinvar variants
- Variants in SETD5
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: setd5 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: setd5 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SETD5 were changed from Moya Moya; intellectual disability to Moya Moya; Mental retardation, autosomal dominant 23, MIM# 615761
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Sue White (Victorian Clinical Genetics Services)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; intellectual disability Penetrance for gene: SETD5 were set to Complete Review for gene: SETD5 was set to RED