Ectodermal dysplasia

Gene: CDSN

Green List (high evidence)

CDSN (corneodesmosin)
EnsemblGeneIds (GRCh38): ENSG00000204539
EnsemblGeneIds (GRCh37): ENSG00000204539
OMIM: 602593, Gene2Phenotype
CDSN is in 6 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green: 1 expert review plus >3 cases of CDSN mutations causing autosomal dominant hypotrichosis (OMIM:146520) in a range of populations.
Created: 23 Jan 2017, 4:36 p.m.
PMID:23746069 (Yang et al., 2014) report a nonsense (c.625C>T) CDSN mutation (p.Q209X) underlying hypotrichosis simplex of the scalp in a Chinese family. This mutation was found in all tested family members with HSS, but not in any of 200 unrelated normal DNA samples.
Created: 23 Jan 2017, 4:34 p.m.
PMID: 22875505 (Huang et al, 2012) identify a nonsense (717C>G) CDSN mutation (p.Y239X) in all 3 patients of a Chinese family affected with hypotrichosis simplex of the scalp with an autosomal dominant inheritance. The same mutation was not found among healthy members of the family and 100 healthy controls.
Created: 23 Jan 2017, 4:34 p.m.
In 2 families (Spanish and Israeli) with hypotrichosis simplex of the scalp (HYPT2, OMIM:146520), Levy-Nissenbaum et al. (2003, PMID:12754508) identified a Gln215Ter (Q215X) mutation in the CDSN gene.
Created: 23 Jan 2017, 4:27 p.m.
In a Dutch family with hypotrichosis simplex of the scalp (HYPT2, OMIM:146520), Levy-Nissenbaum et al. (2003, PMID: 12754508) found a Gln200Ter (Q200X) mutation in the CDSN gene.
Created: 23 Jan 2017, 4:26 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.
Created: 23 Jan 2017, 4:25 p.m.

Celia Moss (Birmingham Children's Hospital)

Green List (high evidence)

Large kindreds reported.
Created: 21 Jan 2017, 11:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hypotrichosis 2, OMIM:146520
OMIM
602593
Clinvar variants
Variants in CDSN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CDSN were changed from hypotrichosis simplex of the scalp; HYPT2; Hypotrichosis 2, 146520 to Hypotrichosis 2, OMIM:146520

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CDSN was added gene: CDSN was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: CDSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDSN were set to 23746069; 12754508; 22875505 Phenotypes for gene: CDSN were set to hypotrichosis simplex of the scalp; HYPT2; Hypotrichosis 2, 146520