Palmoplantar keratodermas
Gene: CTSC
CTSC (cathepsin C)
EnsemblGeneIds (GRCh38): ENSG00000109861
EnsemblGeneIds (GRCh37): ENSG00000109861
OMIM: 602365, Gene2Phenotype
CTSC is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000109861
EnsemblGeneIds (GRCh37): ENSG00000109861
OMIM: 602365, Gene2Phenotype
CTSC is in 9 panels
1 review
Rebecca Foulger (Genomics England curator)
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. Gene Symbol submitted: CTSC; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 28 Jan 2019, 10:47 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Papillon-Lefvre syndrome
- OMIM
- 602365
- Clinvar variants
- Variants in CTSC
- Penetrance
- None
- 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
18 Feb 2019, Gel status: 4
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to CTSC.
28 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: CTSC was added gene: CTSC was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSC were set to Papillon-Lefvre syndrome