Epidermolysis bullosa
Gene: CSTBEnsemblGeneIds (GRCh38): ENSG00000160213
EnsemblGeneIds (GRCh37): ENSG00000160213
OMIM: 601145, Gene2Phenotype
CSTB is in 14 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Keratolytic winter erythema (MIM#148370)
- Tags
- OMIM
- 601145
- Clinvar variants
- Variants in CSTB
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Progressive Myoclonic Epilepsy
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Ataxia - adult onset
- Mendeliome
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Epidermolysis bullosa
- Ataxia - paediatric
- Genetic Epilepsy
- Repeat Disorders
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cstb has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cstb has been classified as Amber List (Moderate Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to gene: CSTB.
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