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 1.34

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 1.18

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


Level 2: Renal
Version 1.29
Latest signed off version: v1.28 (6 May 2026)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Cerebral amyloid angiopathy 105150
    Green CST3 in Adult onset leukodystrophy


    Level 2: Neurology
    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • leukodystrophy, MONDO:0019046
    • Cerebral amyloid angiopathy, OMIM:105150
    • ACys amyloidosis, MONDO:0007098
    Amber CST3 in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 9.1
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • Expert list
    Phenotypes
    • Cerebral amyloid angiopathy, OMIM:105150
    • leukodystrophy, MONDO:0019046