| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ichthyosis v0.48 | KDSR | Zornitza Stark Marked gene: KDSR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.48 | KDSR | Zornitza Stark Gene: kdsr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.48 | KDSR | Zornitza Stark Classified gene: KDSR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.48 | KDSR | Zornitza Stark Gene: kdsr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis v0.16 | KDSR |
Bryony Thompson gene: KDSR was added gene: KDSR was added to Ichthyosis. Sources: Expert list Mode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KDSR were set to 28774589 Phenotypes for gene: KDSR were set to Harlequin ichthyosis Review for gene: KDSR was set to AMBER Added comment: Two unrelated cases with harlequin ichthyosis and thrombocytopenia. These are the only reports associated with ichthyosis, more cases have been reported with palmoplantar keratoderma and erythrokeratoderma. Sources: Expert list |
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