Palmoplantar Keratoderma and Erythrokeratoderma
Gene: CTSCEnsemblGeneIds (GRCh38): ENSG00000109861
EnsemblGeneIds (GRCh37): ENSG00000109861
OMIM: 602365, Gene2Phenotype
CTSC is in 10 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
Papillon-Lefevre syndrome manifests with PPK. Sufficient unrelated patients (>10) for gene-disease association.
Sources: LiteratureCreated: 19 Aug 2020, 7:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Papillon-Lefevre syndrome (MIM#245000)
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 (MIM#245000)
- OMIM
- 602365
- Clinvar variants
- Variants in CTSC
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ctsc has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ctsc has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: CTSC was added gene: CTSC was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSC were set to 11106356; 32601924 Phenotypes for gene: CTSC were set to Papillon-Lefevre syndrome (MIM#245000) Review for gene: CTSC was set to GREEN gene: CTSC was marked as current diagnostic