Vasculitis
Gene: CST3EnsemblGeneIds (GRCh38): ENSG00000101439
EnsemblGeneIds (GRCh37): ENSG00000101439
OMIM: 604312, Gene2Phenotype
CST3 is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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, 10:07 a.m. | Last Modified: 10 Mar 2021, 10:07 a.m.
Panel Version: 0.26
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 Amber
- Victorian Clinical Genetics Services
- Phenotypes
-
- Cerebral amyloid angiopathy, MIM# 105150
- Tags
- OMIM
- 604312
- Clinvar variants
- Variants in CST3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cst3 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CST3 were changed from to Cerebral amyloid angiopathy, MIM# 105150
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CST3 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CST3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cst3 has been classified as Amber List (Moderate Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag founder tag was added to gene: CST3.
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CST3 was added gene: CST3 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CST3 was set to Unknown