Non-syndromic hypotrichosis

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
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Hypotrichosis 2, OMIM:146520
OMIM
602593
Clinvar variants
Variants in CDSN
Penetrance
Complete
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; Hypotrichosis 2, 146520; HYPT2 to Hypotrichosis 2, OMIM:146520

20 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

20 February 2017: Panel review was assessed, and panel was revised according to expert review and additional curation. Queried with the expert reviewer whether the 'Non-syndromic hypotrichosis' and 'cicatricial alopecia' panels should be combined based on overlapping phenotypes. Celia Moss commented that dermatologists consider cicatricial (scarring) alopecia distinct from simple hypotrichosis (in which there is no scarring); therefore have kept the panels separate.

23 Jan 2017, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for CDSN were set to 12754508; 23746069; 22875505

23 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

23 Jan 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for CDSN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

23 Jan 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene CDSN were set to hypotrichosis simplex of the scalp; Hypotrichosis 2, 146520; HYPT2;

29 Nov 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

CDSN was added to Non-syndromic hypotrichosispanel. Source: Radboud University Medical Center, Nijmegen

29 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

CDSN was created by rfoulger

29 Nov 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CDSN was added to Non-syndromic hypotrichosispanel. Sources: Other