Hair disorders
Gene: CST6EnsemblGeneIds (GRCh38): ENSG00000175315
EnsemblGeneIds (GRCh37): ENSG00000175315
OMIM: 601891, Gene2Phenotype
CST6 is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
2nd family with 2 siblings (Chinese origin) with dry skin, desquamation and abnormal keratosis without hypotrichosis. WES identified homozygous loss-of-function mutation (p.Gly84Asp) in the CST6 gene (coding for Cystatin M/E). Further fluorimetric enzyme assays demonstrated the mutant cystatin M/E protein lost its inhibitory function on the protease activity of cathepsins. The corresponding mutation in mice resulted in excessive cornification, desquamation, impaired skin barrier function, and abnormal proliferation and differentiation of keratinocytes.Created: 18 Feb 2023, 3:29 a.m. | Last Modified: 18 Feb 2023, 3:29 a.m.
Panel Version: 0.67
Phenotypes
Ectodermal dysplasia 15, hypohidrotic/hair type, 618535
Publications
Bryony Thompson (Royal Melbourne Hospital)
A single family reported with hypotrichosis and a supporting null mouse model
Sources: Expert listCreated: 31 Jul 2020, 12:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectodermal dysplasia 15, hypohidrotic/hair type MIM#618535
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Ectodermal dysplasia 15, hypohidrotic/hair type MIM#618535
- OMIM
- 601891
- Clinvar variants
- Variants in CST6
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CST6 were set to 30425301; 12393798
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cst6 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cst6 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CST6 was added gene: CST6 was added to Hair disorders. Sources: Expert list Mode of inheritance for gene: CST6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CST6 were set to 30425301; 12393798 Phenotypes for gene: CST6 were set to Ectodermal dysplasia 15, hypohidrotic/hair type MIM#618535 Review for gene: CST6 was set to AMBER