Palmoplantar keratodermas

Gene: CDSN

Green List (high evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Monoallelic variants in this gene are associated with hypotrichosis simplex of the scalp without other abnormalities (MIM# 146520). On the other hand, biallelic variants cause peeling skin disease (MIM# 270300) which histologically may present with hyperkeratosis, although this is not a predominant feature of the overall phenotype and patients are probably more likely to be tested under a different panel (e.g. R164).
Overall given the limited evidence linking this gene with PPK, it should be considered for demotion on this panel from Green to Red at the next GMS review.
Created: 5 Apr 2022, 10:28 a.m. | Last Modified: 5 Apr 2022, 10:28 a.m.
Panel Version: 1.13

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: CDSN; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 28 Jan 2019, 10:47 a.m.

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Desmosomal disorders
Tags
Q2_22_rating Q2_22_expert_review
OMIM
602593
Clinvar variants
Variants in CDSN
Penetrance
None
Panels with this gene

History Filter Activity

5 Apr 2022, Gel status: 3

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_22_rating tag was added to gene: CDSN. Tag Q2_22_expert_review tag was added to gene: CDSN.

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to CDSN.

28 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: CDSN was added gene: CDSN was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CDSN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CDSN were set to Desmosomal disorders