CST3

cystatin C
OMIM: 604312, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red CST3 in Periodic fever syndromes

Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.33

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cerebral amyloid angiopathy, OMIM:105150
Tags
  • founder-effect
Red CST3 in Familial cerebral small vessel disease

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.17

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
  • Literature
Phenotypes
  • Cerebral amyloid angiopathy, OMIM:105150
Tags
  • watchlist
  • founder-effect
Amber CST3 in Hereditary systemic amyloidosis


Version 1.21
Latest signed off version: v1.18 (22 Mar 2023)

Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Cerebral amyloid angiopathy 105150
    Amber CST3 in Adult onset leukodystrophy


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Cerebral amyloid angiopathy, OMIM:105150
    • ACys amyloidosis, MONDO:0007098
    Tags
    • founder-effect
    Amber CST3 in Adult onset neurodegenerative disorder


    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Cerebral amyloid angiopathy, OMIM:105150