Periodic fever syndromes
Gene: CST3EnsemblGeneIds (GRCh38): ENSG00000101439
EnsemblGeneIds (GRCh37): ENSG00000101439
OMIM: 604312, Gene2Phenotype
CST3 is in 5 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Await further evidence -red for nowCreated: 2 Feb 2017, 1:58 p.m.
Founder mutation. ?Only reported in IcelandCreated: 1 Feb 2017, 4:04 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebral amyloid angiopathy 105150
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Cerebral amyloid angiopathy, OMIM:105150
- Tags
- OMIM
- 604312
- Clinvar variants
- Variants in CST3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CST3 were changed from Cerebral amyloid angiopathy 105150 to Cerebral amyloid angiopathy, OMIM:105150
panel promoted to version 1
Rebecca Foulger (Genomics England curator)22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Created
Alice Gardham (Genomics England)CST3 was created by agardham
Added New Source
Alice Gardham (Genomics England)CST3 was added to Periodic fever syndromespanel. Sources: Literature,Radboud University Medical Center, Nijmegen