Epidermolysis bullosa
Gene: CDSNEnsemblGeneIds (GRCh38): ENSG00000204539
EnsemblGeneIds (GRCh37): ENSG00000204539
OMIM: 602593, Gene2Phenotype
CDSN is in 8 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
Also known as TypeB
PMID: 23957618;
1x Caucasian female with homozygous p.(Gly142*)
PMID: 20691404;
4x in a large consanguineous Roma family from Germany with homozygous p.(Lys59*)
PMID: 21191406;
1x Jewish male from a consanguineous family with homozygous p.(Gly249Valfs40)
PMID: 25473393;
1x japanese female from consanguineous family with homozygous p.(Ser453Asn)
Sources: LiteratureCreated: 10 Aug 2020, 3:16 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peeling skin syndrome 1 (MIM#270300)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Peeling skin syndrome 1 (MIM#270300)
- OMIM
- 602593
- Clinvar variants
- Variants in CDSN
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cdsn has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cdsn has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: CDSN was added gene: CDSN was added to Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: CDSN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDSN were set to 23957618; 20691404; 21191406; 25473393 Phenotypes for gene: CDSN were set to Peeling skin syndrome 1 (MIM#270300) Penetrance for gene: CDSN were set to unknown Review for gene: CDSN was set to GREEN