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 1.20

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 1.80

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 1.9
Latest signed off version: v1.3 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Papillon-Lefvre syndrome

Green CTSC in Primary immunodeficiency


Version 2.477
Latest signed off version: v2.1 (24 Feb 2020)

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 2.137
Latest signed off version: v2.2 (13 Feb 2020)

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 1.486

    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 Inborn errors of metabolism


    Version 2.187
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 or chorea or related movement disorder


    Version 1.157
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green CTSC in Severe Paediatric Disorders


    Version 1.84

    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