PanelApp
  1. Genes and Genomic Entities
  2. CTSC

CTSC

cathepsin C
OMIM: 602365, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green CTSC in Mendeliome


Version 1.3512

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Haim-Munk syndrome MIM#245010
  • Papillon-Lefevre syndrome MIM#245000
  • Periodontitis 1, juvenile MIM#170650

Green CTSC in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.136

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Papillon-Lefevre syndrome (MIM#245000)

Green CTSC in Lysosomal Storage Disorder


Level 2: Metabolic conditions
Version 1.23

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • ectodermal dysplasia syndrome MONDO:0019287
    • Other disorders of complex molecule degradation

    Green CTSC in Phagocyte Defects


    Level 2: Immunological disorders
    Version 1.44

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Papillon-Lefevre syndrome, MIM# 245000

    Green CTSC in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Expert list
    Phenotypes
    • Haim-Munk syndrome 245010,
    • Haim-Munk syndrome 245010

    Green CTSC in Ectodermal Dysplasia


    Level 2: Dermatological disorders
    Version 0.102

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Haim-Munk syndrome MIM#245010
    • Papillon-Lefevre syndrome MIM#245000

    Green CTSC in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Papillon-Lefevre syndrome, 245000 (3)

    Green CTSC in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.57

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Haim-Munk syndrome MIM#245010
    • Papillon-Lefevre syndrome MIM#245000
    • other lysosomal disorder

    Green CTSC in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Haim-Munk syndrome MIM#245010
    • Papillon-Lefevre syndrome MIM#245000

    Green CTSC in Prepair 500+


    Level 2: Screening
    Version 2.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    • Mackenzie's Mission
    Phenotypes
    • Haim-Munk syndrome MIM#245010
    • Papillon-Lefevre syndrome MIM#245000