Epidermolysis bullosa
Gene: CSTB
The comment bellow and the paper is about CTSB gene, not the CSTB !
CSTB has no skin phenotype.Created: 11 Mar 2025, 7:38 a.m. | Last Modified: 11 Mar 2025, 7:38 a.m.
Panel Version: 1.22
PMID: 28457472; CNV
- 7 South African families with keratolytic winter erythema. Identified a noncoding 7.67-kb tandem duplication on chromosome 8 that segregated with disease and was not found in 127 controls.
- This region overlaps with an enhancer element which correlated with CTSB expression
- qPCR analysis and immunohistochemistry of the palmar epidermis demonstrated significantly increased expression of CTSB, as well as stronger staining of cathepsin B in the stratum granulosum of affected individuals than in that of control
Sources: LiteratureCreated: 10 Aug 2020, 6:23 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Keratolytic winter erythema (MIM#148370)
Publications
Gene: cstb has been classified as Amber List (Moderate Evidence).
Gene: cstb has been classified as Amber List (Moderate Evidence).
Tag SV/CNV tag was added to gene: CSTB.
gene: CSTB was added gene: CSTB was added to Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: CSTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CSTB were set to 28457472 Phenotypes for gene: CSTB were set to Keratolytic winter erythema (MIM#148370) Penetrance for gene: CSTB were set to unknown Review for gene: CSTB was set to AMBER