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Prepair 1000+

Gene: CLDN1

Green List (high evidence)
CLDN1 (claudin 1)
EnsemblGeneIds (GRCh38): ENSG00000163347
EnsemblGeneIds (GRCh37): ENSG00000163347
OMIM: 603718, Gene2Phenotype
CLDN1 is in 7 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Rare ichthyosis phenotype - present in infancy. Characteristic dermatological findings include scalp hypotrichosis, dystrophic hair, cicatricial frontoparietal alopecia, sparse eyelashes and eyebrows, and ichthyosis with diffuse white scales not involving the skin folds. 22 reported cases in literature as at 2022 (PMID:36779798). Phenotypic variability between affected individuals. Possible association of CLDN1 variants and neurological symptoms - learning/ language delay, ID (PMID: 35304779). Liver abnormalities appear to be frequently observed. Mouse model present and shows epidermis is impacted. Pathogenic variants reported are LoF.
Created: 30 Jul 2024, 6:27 a.m. | Last Modified: 30 Jul 2024, 6:27 a.m.
Panel Version: 1.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626

Publications

Created: 30 Jul 2024, 6:27 a.m.
Last Modified: 30 Jul 2024, 6:27 a.m.
Panel version: 1.65

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)
OMIM
603718
Clinvar variants
Variants in CLDN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: cldn1 has been classified as Green List (High Evidence).

6 Aug 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: CLDN1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLDN1 was added gene: CLDN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)