1. Panels
  2. GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH
  3. CST3
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GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH

Gene: CST3

Green List (high evidence)
CST3 (cystatin C)
EnsemblGeneIds (GRCh38): ENSG00000101439
EnsemblGeneIds (GRCh37): ENSG00000101439
OMIM: 604312, Gene2Phenotype
CST3 is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list for Vasculitis and Inflammation panel (VIP Consensus Genes for Panels 17.12.18.xlsx) collated by Lucy Jenkins, NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust December 2018 on behalf of London North GLH for the GMS Immunology specialist test group. Gene Symbol submitted: CST3; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 105200; PMID(s): 2900981; Comment: PanelApp panel name indicated if gene already present in Panelapp: Red in Periodic Fever Syndrome PanelApp
Created: 27 Feb 2019, 3:14 p.m.
Created: 27 Feb 2019, 3:14 p.m.

Panel version: 0.6

Lucy Jenkins (North Thames GMC & North East Thames Regional Genetics Service)

Green List (high evidence)

Gene rating submitted by Lucy Jenkins, NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust December 2018 on behalf of London North GLH for the GMS Immunology specialist test group.
Created: 27 Feb 2019, 2:22 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Created: 27 Feb 2019, 2:22 p.m.

Panel version: 0.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • 105200
OMIM
604312
Clinvar variants
Variants in CST3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Feb 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CST3. Mode of inheritance for gene CST3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 105200 for gene: CST3 Publications for gene CST3 were changed from to 2900981 Rating Changed from Red List (low evidence) to Green List (high evidence)

27 Feb 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CST3.

27 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CST3 was added gene: CST3 was added to GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH. Sources: London North GLH Mode of inheritance for gene: CST3 was set to