Palmoplantar keratoderma and erythrokeratodermas
Gene: CTSCEnsemblGeneIds (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)
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 listCreated: 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
-
- Palmoplantar keratoderma and erythrokeratodermas
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Palmoplantar keratodermas
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- COVID-19 research
- Undiagnosed metabolic disorders
- Skeletal dysplasia
History Filter Activity
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: ctsc has been classified as Green List (High Evidence).
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