Familial cerebral small vessel disease

Gene: CST3

Red List (low evidence)

CST3 (cystatin C)
EnsemblGeneIds (GRCh38): ENSG00000101439
EnsemblGeneIds (GRCh37): ENSG00000101439
OMIM: 604312, Gene2Phenotype
CST3 is in 3 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

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

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.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Red
Phenotypes
  • Stroke
  • haemorrhagic stroke
  • dementia
  • Cerebral amyloid angiopathy 105150
Tags
watchlist founder-effect
OMIM
604312
Clinvar variants
Variants in CST3
Penetrance
Complete
Panels with this gene

History Filter Activity

4 Jul 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CST3 were set to Stroke; haemorrhagic stroke; dementia; Cerebral amyloid angiopathy 105150

4 Jul 2016, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

CST3 was added to Familial cerebral small vessel diseasepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen

4 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Jul 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CST3 were set to Dementia; cognitive impairment; cerebral small vessel disease; lobar haemorrhage; intracerebral haemorrhage; Cerebral amyloid angiopathy 105150

22 Jun 2016, Gel status: 0

Created

Rhea Tan (University of Cambridge)

CST3 was created by rheatan

22 Jun 2016, Gel status: 0

Added New Source

Rhea Tan (University of Cambridge)

CST3 was added to Familial cerebral small vessel diseasepanel. Sources: Literature