Periodic fever syndromes

Gene: CST3

Red List (low evidence)

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

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Comment when marking as ready: Await further evidence -red for now
Created: 2 Feb 2017, 1:58 p.m.
Founder mutation. ?Only reported in Iceland
Created: 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 105150
Tags
founder-effect
OMIM
604312
Clinvar variants
Variants in CST3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 1

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.

2 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

1 Feb 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

CST3 was created by agardham

1 Feb 2017, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

CST3 was added to Periodic fever syndromespanel. Sources: Literature,Radboud University Medical Center, Nijmegen