Palmoplantar keratodermasGene: CLDN1
This gene is associated with ichthyosis. I cannot find any association with PPK for this gene.
Created: 19 Aug 2020, 6:29 a.m. | Last Modified: 19 Aug 2020, 6:29 a.m.
Panel Version: 1.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (MIM#607626)
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: CLDN1; 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
Source London North GLH was added to CLDN1.
gene: CLDN1 was added gene: CLDN1 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN1 were set to Neonatal ichthyosis-sclerosing cholangitis syndrome