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Palmoplantar keratodermas v3.24 | CLDN1 |
Sarah Leigh Tag Q1_24_demote_red tag was added to gene: CLDN1. Tag Q1_24_expert_review tag was added to gene: CLDN1. |
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Palmoplantar keratodermas v3.24 | CLDN1 | Sarah Leigh reviewed gene: CLDN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar keratodermas v1.3 | CLDN1 | Zornitza Stark reviewed gene: CLDN1: Rating: RED; Mode of pathogenicity: None; Publications: 15521008; Phenotypes: Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (MIM#607626); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar keratodermas v0.5 | CLDN1 | Rebecca Foulger Source London North GLH was added to CLDN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar keratodermas v0.4 | CLDN1 | Rebecca Foulger reviewed gene: CLDN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Palmoplantar keratodermas v0.3 | CLDN1 |
Rebecca Foulger 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 |