Ectodermal Dysplasia
Gene: CTSCEnsemblGeneIds (GRCh38): ENSG00000109861
EnsemblGeneIds (GRCh37): ENSG00000109861
OMIM: 602365, Gene2Phenotype
CTSC is in 10 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association (see OMIM). Ectodermal dysplasia (involving skin and teeth) is a feature of the conditions caused by biallelic variants in this gene.
Sources: OtherCreated: 3 Feb 2021, 12:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Haim-Munk syndrome MIM#245010; 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
- Other
- Phenotypes
-
- Haim-Munk syndrome MIM#245010
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: ctsc has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ctsc has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CTSC was added gene: CTSC was added to Ectodermal Dysplasia. Sources: Other Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSC were set to 10581027 Phenotypes for gene: CTSC were set to Haim-Munk syndrome MIM#245010; Papillon-Lefevre syndrome MIM#245000 Review for gene: CTSC was set to GREEN gene: CTSC was marked as current diagnostic