CTSC

cathepsin C
OMIM: 602365, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green CTSC in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.31

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Papillon-Lefevre syndrome
  • Haim-Munk syndrome
  • Periodontitis 1, juvenile
Green CTSC in COVID-19 research


Level 2: Viral research
Version 1.141

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Severe periodontitis
  • Periodontitis, palmoplantar hyperkeratosis in some patients
  • Congenital defects of phagocyte number or function
  • Haim-Munk syndrome, 245010
  • palmoplantar keratoderma
  • Papillon-Lefevre syndrome, 245000
Green CTSC in Palmoplantar keratodermas


Version 3.24
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Papillon-Lefvre syndrome
Green CTSC in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.191
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Papillon-Lefevre syndrome, 245000
  • Periodontitis, palmoplantar hyperkeratosis in some patients
  • Congenital defects of phagocyte number or function
  • Severe periodontitis
  • palmoplantar keratoderma
  • Haim-Munk syndrome, 245010
Green CTSC in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.52
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Haim-Munk syndrome 245010,
    • Haim-Munk syndrome 245010
    Green CTSC in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.613

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Haim-Munk syndrome 245010
    • Papillon-Lefevre syndrome 245000
    • Periodontitis 1, juvenile 170650
    Green CTSC in Likely inborn error of metabolism - targeted testing not possible


    Version 4.131
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Haim-Munk syndrome 245010
    • Papillon-Lefevre syndrome 245000
    • Periodontitis 1, juvenile 170650
    Red CTSC in Childhood onset dystonia, chorea or related movement disorder


    Version 3.71
    Latest signed off version: v3.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green CTSC in Severe Paediatric Disorders


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Papillon-Lefevre syndrome, 245000
    • Periodontitis 1, juvenile, 170650
    • Haim-Munk syndrome, 245010