Palmoplantar keratoderma and erythrokeratodermas

Gene: CTSC

Green List (high evidence)

CTSC (cathepsin C)
EnsemblGeneIds (GRCh38): ENSG00000109861
EnsemblGeneIds (GRCh37): ENSG00000109861
OMIM: 602365, Gene2Phenotype
CTSC is in 9 panels

2 reviews

Catherine Snow (Genomics England)

Comment on list classification: Gene added to panel based on feedback from Genomics England clinician.
Created: 7 Jan 2020, 4:48 p.m. | Last Modified: 7 Jan 2020, 4:48 p.m.
Panel Version: 1.17

Zerin Hyder (Genomics England)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group.
CTSC green on GMS panel, upgrade on 100K panel.
Sources: Expert list
Created: 7 Jan 2020, 11:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Papillon-Lefevre syndrome; Haim-Munk syndrome; Periodontitis 1, juvenile

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Papillon-Lefevre syndrome
  • Haim-Munk syndrome
  • Periodontitis 1, juvenile
OMIM
602365
Clinvar variants
Variants in CTSC
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

7 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: ctsc has been classified as Green List (High Evidence).

7 Jan 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Zerin Hyder (Genomics England)

gene: CTSC was added gene: CTSC was added to Palmoplantar keratoderma and erythrokeratodermas. Sources: Expert list Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSC were set to 10581027; 15585850; 11180012; 10662807 Phenotypes for gene: CTSC were set to Papillon-Lefevre syndrome; Haim-Munk syndrome; Periodontitis 1, juvenile Penetrance for gene: CTSC were set to unknown Review for gene: CTSC was set to GREEN gene: CTSC was marked as current diagnostic