Epidermolysis bullosa

Gene: CSTB

Amber List (moderate evidence)

CSTB (cystatin B)
EnsemblGeneIds (GRCh38): ENSG00000160213
EnsemblGeneIds (GRCh37): ENSG00000160213
OMIM: 601145, Gene2Phenotype
CSTB is in 14 panels

2 reviews

Dmitrijs Rots (Other)

Red List (low evidence)

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

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

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: Literature
Created: 10 Aug 2020, 6:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Keratolytic winter erythema (MIM#148370)

Publications

Details

History Filter Activity

10 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cstb has been classified as Amber List (Moderate Evidence).

10 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cstb has been classified as Amber List (Moderate Evidence).

10 Aug 2020, Gel status: 0

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: CSTB.

10 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Ain Roesley (Victorian Clinical Genetics Services)

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