Ectodermal Dysplasia
Gene: CST6EnsemblGeneIds (GRCh38): ENSG00000175315
EnsemblGeneIds (GRCh37): ENSG00000175315
OMIM: 601891, Gene2Phenotype
CST6 is in 3 panels
2 reviews
Chirag Patel (Genetic Health Queensland)
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: 3 Feb 2023, 6:08 a.m. | Last Modified: 3 Feb 2023, 6:08 a.m.
Panel Version: 0.77
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
dry skin, desquamation and abnormal keratosis without hypotrichosis
Publications
- PMID: 36371786
Bryony Thompson (Royal Melbourne Hospital)
One family with in vitro functional assaysCreated: 9 Mar 2020, 9:58 a.m. | Last Modified: 9 Mar 2020, 9:58 a.m.
Panel Version: 0.1
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 Green
- Royal Melbourne Hospital
- Phenotypes
-
- Ectodermal dysplasia 15, hypohidrotic/hair type, 618535
- OMIM
- 601891
- Clinvar variants
- Variants in CST6
- 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: cst6 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CST6 were changed from ?Ectodermal dysplasia 15, hypohidrotic/hair type, 618535 to Ectodermal dysplasia 15, hypohidrotic/hair type, 618535
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CST6 were set to 30425301
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: cst6 has been classified as Green List (High 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 Ectodermal Dysplasia_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: CST6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CST6 were set to 30425301 Phenotypes for gene: CST6 were set to ?Ectodermal dysplasia 15, hypohidrotic/hair type, 618535