Ectodermal Dysplasia

Gene: CST6

Green List (high evidence)

CST6 (cystatin E/M)
EnsemblGeneIds (GRCh38): ENSG00000175315
EnsemblGeneIds (GRCh37): ENSG00000175315
OMIM: 601891, Gene2Phenotype
CST6 is in 3 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

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

Bryony Thompson (Royal Melbourne Hospital)

I don't know

One family with in vitro functional assays
Created: 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

18 Feb 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cst6 has been classified as Green List (High Evidence).

18 Feb 2023, Gel status: 3

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

18 Feb 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CST6 were set to 30425301

3 Feb 2023, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: cst6 has been classified as Green List (High Evidence).

9 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cst6 has been classified as Amber List (Moderate Evidence).

14 Jan 2020, Gel status: 1

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