Ichthyosis and erythrokeratoderma
Gene: CDSNEnsemblGeneIds (GRCh38): ENSG00000204539
EnsemblGeneIds (GRCh37): ENSG00000204539
OMIM: 602593, Gene2Phenotype
CDSN is in 6 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 5 Dec 2024, 10:34 p.m. | Last Modified: 5 Dec 2024, 10:34 p.m.
Panel Version: 3.30
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added by Tom Cullup (GOSH). Based on the recommendation by the specialist team that all genes causing peeling skin syndrome should be included on this panel, and that there is sufficient evidence of a gene:disease association, this gene should be promoted to Green at the next GMS review.
Changing MOI from 'BOTH mono- and biallelic' to 'BIALLELIC' as monoallelic variants are associated with hypotrichosis simplex of the scalp without other abnormalities (MIM# 146520).Created: 31 Oct 2023, 4:38 p.m. | Last Modified: 31 Oct 2023, 4:38 p.m.
Panel Version: 3.7
Tom Cullup (Great Ormond Street Hospital)
Recommend all peeling skin syndrome genes should be on R165 & R166
Sources: Expert listCreated: 5 May 2023, 3:14 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypotrichosis 2; Peeling skin syndrome 1
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Peeling skin syndrome 1, OMIM:270300
- OMIM
- 602593
- Clinvar variants
- Variants in CDSN
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_promote_green was removed from gene: CDSN. Tag Q4_23_NHS_review was removed from gene: CDSN.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to CDSN. Source NHS GMS was added to CDSN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CDSN were changed from Hypotrichosis 2; Peeling skin syndrome 1 to Peeling skin syndrome 1, OMIM:270300
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: CDSN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: cdsn has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_23_promote_green tag was added to gene: CDSN. Tag Q4_23_NHS_review tag was added to gene: CDSN.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Tom Cullup (Great Ormond Street Hospital)gene: CDSN was added gene: CDSN was added to Ichthyosis and erythrokeratoderma. Sources: Expert list Mode of inheritance for gene: CDSN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CDSN were set to PubMed: 21191406; 12754508; 23957618 Phenotypes for gene: CDSN were set to Hypotrichosis 2; Peeling skin syndrome 1 Penetrance for gene: CDSN were set to unknown Review for gene: CDSN was set to GREEN