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Cerebral vascular malformations

Gene: SIRT1

Red List (low evidence)
SIRT1 (sirtuin 1)
EnsemblGeneIds (GRCh38): ENSG00000096717
EnsemblGeneIds (GRCh37): ENSG00000096717
OMIM: 604479, Gene2Phenotype
SIRT1 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Rating Red as only a single case has been reported to date. Additional evidence is required before attributing causality.
Created: 1 May 2025, 12:54 p.m. | Last Modified: 1 May 2025, 12:54 p.m.
Panel Version: 4.2
Created: 1 May 2025, 12:54 p.m.
Last Modified: 1 May 2025, 12:54 p.m.
Panel version: 4.2

Alexandra Njegic (Leeds Teaching Hospital Trust)

Red List (low evidence)

30578106: 1 family, authors identified 1 de novo frameshift SIRT1 variant in proband, proband also harboured a transmitted CLDN14 variant. Supplementary table suggests relatives have capillary malformations.
Sources: Literature
Created: 15 Apr 2025, 9:48 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Vein of Galen Malformation

Publications

Created: 15 Apr 2025, 9:48 a.m.

Panel version: 3.26

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Vein of Galen Malformation
OMIM
604479
Clinvar variants
Variants in SIRT1
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

1 May 2025, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: sirt1 has been classified as Red List (Low Evidence).

15 Apr 2025, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Alexandra Njegic (Leeds Teaching Hospital Trust)

gene: SIRT1 was added gene: SIRT1 was added to Cerebral vascular malformations. Sources: Literature Mode of inheritance for gene: SIRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIRT1 were set to 30578106 Phenotypes for gene: SIRT1 were set to Vein of Galen Malformation Penetrance for gene: SIRT1 were set to Incomplete Review for gene: SIRT1 was set to RED