| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ichthyosis v0.65 | CLDN1 | Zornitza Stark Marked gene: CLDN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.65 | CLDN1 | Zornitza Stark Gene: cldn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.65 | CLDN1 | Zornitza Stark Classified gene: CLDN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.65 | CLDN1 | Zornitza Stark Gene: cldn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.39 | CLDN1 |
Bryony Thompson 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 Added comment: 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: Literature |
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| Ichthyosis v0.33 | CLDN10 | Zornitza Stark Marked gene: CLDN10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.33 | CLDN10 | Zornitza Stark Gene: cldn10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.33 | CLDN10 | Zornitza Stark Phenotypes for gene: CLDN10 were changed from to HELIX syndrome MIM#617671; hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.32 | CLDN10 | Zornitza Stark Mode of inheritance for gene: CLDN10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.12 | CLDN10 | Bryony Thompson reviewed gene: CLDN10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HELIX syndrome MIM#617671, hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.0 | CLDN10 |
Zornitza Stark gene: CLDN10 was added gene: CLDN10 was added to Ichthyosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CLDN10 was set to Unknown |
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