Cerebral vascular malformations

Gene: SETD5

Amber List (moderate evidence)

SETD5 (SET domain containing 5)
EnsemblGeneIds (GRCh38): ENSG00000168137
EnsemblGeneIds (GRCh37): ENSG00000168137
OMIM: 615743, Gene2Phenotype
SETD5 is in 8 panels

2 reviews

Sue White (Victorian Clinical Genetics Services)

Red List (low evidence)

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
Created: 27 Nov 2020, 2:28 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Moya Moya; intellectual disability

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review Green
  • Victorian Clinical Genetics Services
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

20 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: setd5 has been classified as Amber List (Moderate Evidence).

27 Nov 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: setd5 has been classified as Red List (Low Evidence).

27 Nov 2020, Gel status: 1

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

27 Nov 2020, Gel status: 1

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