Palmoplantar Keratoderma and Erythrokeratoderma
Gene: CSTAEnsemblGeneIds (GRCh38): ENSG00000121552
EnsemblGeneIds (GRCh37): ENSG00000121552
OMIM: 184600, Gene2Phenotype
CSTA is in 7 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
Associated with peeling skin syndrome (at least 4 families). Hyperkeratosis and PPK are features.
Sources: LiteratureCreated: 19 Aug 2020, 6:22 a.m. | Last Modified: 19 Aug 2020, 6:23 a.m.
Panel Version: 0.87
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peeling skin syndrome 4 #607936
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
-
- Peeling skin syndrome 4 #607936
- OMIM
- 184600
- Clinvar variants
- Variants in CSTA
- 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: csta has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: csta 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: CSTA was added gene: CSTA was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSTA were set to 23534700; 21944047; 25400170 Phenotypes for gene: CSTA were set to Peeling skin syndrome 4 #607936 gene: CSTA was marked as current diagnostic