Familial cerebral small vessel disease
Gene: CST3

CST3 (cystatin C)
EnsemblGeneIds (GRCh38): ENSG00000101439
EnsemblGeneIds (GRCh37): ENSG00000101439
OMIM: 604312, Gene2Phenotype
CST3 is in 5 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Tagged gene to indicate possible founder mutation.
Created: 8 Dec 2016, 2:20 p.m.

Created: 8 Dec 2016, 2:20 p.m.

Panel version: 1.0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Single variant reported in numerous Icelandic families, potential founder variant
Created: 4 Jul 2016, 8:25 a.m.

Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE Study
Created: 4 Jul 2016, 8:24 a.m.

Comment on list classification: Tier 1 gene for Cerebral Small Vessel Disorders in BRIDGE Study
Created: 4 Jul 2016, 8:22 a.m.

Created: 4 Jul 2016, 8:22 a.m.

Panel version: 0.61

Rhea Tan (University of Cambridge)

Green List (high evidence)

Hereditary cerebral haemorrhage with amyloidosis - Icelandic type.
Created: 24 Jun 2016, 9:15 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
stroke; haemorrhagic stroke; dementia;

Publications

PMID:16612982

Created: 24 Jun 2016, 9:15 a.m.

Panel version: 0.21

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Radboud University Medical Center, Nijmegen
Expert list
Expert Review Red

Phenotypes

Cerebral amyloid angiopathy, OMIM:105150

Tags

watchlist founder-effect

OMIM

604312

Clinvar variants

Variants in CST3

Penetrance

Complete

Panels with this gene

History Filter Activity

3 Jan 2023, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CST3 were changed from Stroke; haemorrhagic stroke; dementia; Cerebral amyloid angiopathy 105150 to Cerebral amyloid angiopathy, OMIM:105150

4 Jul 2016, Gel status: 1