Stroke

Gene: CST3

Amber List (moderate evidence)

CST3 (cystatin C)
EnsemblGeneIds (GRCh38): ENSG00000101439
EnsemblGeneIds (GRCh37): ENSG00000101439
OMIM: 604312, Gene2Phenotype
CST3 is in 9 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

16 patients from 8 leukodystrophy families carrying one of four different stop-gain or frameshift dominant variants in the C-terminal (in the NMD-exclusion zone) of the CST3 gene. The suggested mechanism of disease by rendering the protein more prone to aggregation. The clinical phenotype consists of recurrent episodes of hemiplegic migraine associated with transient unilateral focal deficits and slowly progressing motor symptoms and cognitive decline in mid-old adult ages. Clinical & radiological features differ from Cerebral Amyloid Angiopathy.
Created: 1 Apr 2024, 7:46 a.m. | Last Modified: 1 Apr 2024, 7:46 a.m.
Panel Version: 1.1625

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
leukodystrophy MONDO:0019046, CST3-related

Publications

Mode of pathogenicity
Other

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Cerebral amyloid angiopathy (CAA), defined by the deposition of congophilic material in the vessels of the cortex and leptomeninges, is a major cause of intracerebral hemorrhage in the elderly.

Single variant reported in multiple Icelandic families, founder effect.
Created: 10 Mar 2021, 10:01 a.m. | Last Modified: 10 Mar 2021, 10:01 a.m.
Panel Version: 0.76

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebral amyloid angiopathy, MIM# 105150

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Cerebral amyloid angiopathy, MIM# 105150
Tags
founder
OMIM
604312
Clinvar variants
Variants in CST3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2021, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: CST3.

10 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cst3 has been classified as Amber List (Moderate Evidence).

10 Mar 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CST3 were changed from Hereditary cerebral amyloid angiopathy, Icelandic type, MIM#105150 to Cerebral amyloid angiopathy, MIM# 105150

10 Mar 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CST3 were changed from Hereditary cerebral amyloid angiopathy, Icelandic type to Hereditary cerebral amyloid angiopathy, Icelandic type, MIM#105150

10 Mar 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CST3 were set to

10 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cst3 has been classified as Amber List (Moderate Evidence).

22 Apr 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CST3 was added gene: CST3 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CST3 were set to Hereditary cerebral amyloid angiopathy, Icelandic type