Cerebral vascular malformations
Gene: SETD5
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
Comment when marking as ready: PMID: 29484850: Review of all literature reporting SETD5 (table 1). Out of 42 patients described in these papers, 71.4% have motor impairment/delay, 69.0% speech impairment/delay, 23.8% eplilepsy/seizures, 38% congenital heart defects, 95.2% facial dysmorphism, 21.4% hand stereotypies/ritualised behaviour, 19% impaired vision, 42.8% muscle hypotonia and 28.6% polydactyly.Created: 6 Jan 2020, 1:27 a.m. | Last Modified: 6 Jan 2020, 1:27 a.m.
Panel Version: 0.677
Gene: setd5 has been classified as Amber List (Moderate Evidence).
Gene: setd5 has been classified as Red List (Low Evidence).
Phenotypes for gene: SETD5 were changed from Moya Moya; intellectual disability to Moya Moya; Mental retardation, autosomal dominant 23, MIM# 615761
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