Ichthyosis
Gene: CLDN1EnsemblGeneIds (GRCh38): ENSG00000163347
EnsemblGeneIds (GRCh37): ENSG00000163347
OMIM: 603718, Gene2Phenotype
CLDN1 is in 7 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A rare syndromic ichthyosis that has been reported ~15 cases with at least 3 different variants since 2004. A Cldn1 null mouse has an abnormal epidermal barrier.
Sources: LiteratureCreated: 31 Jan 2020, 10:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626
- OMIM
- 603718
- Clinvar variants
- Variants in CLDN1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cldn1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cldn1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CLDN1 was added gene: CLDN1 was added to Ichthyosis. Sources: Literature Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLDN1 were set to 12164927; 11889141; 29146216 Phenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626 Review for gene: CLDN1 was set to GREEN