| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Bleeding and Platelet Disorders v0.98 | KDSR | Zornitza Stark Marked gene: KDSR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.98 | KDSR | Zornitza Stark Gene: kdsr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.98 | KDSR | Zornitza Stark Classified gene: KDSR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.98 | KDSR | Zornitza Stark Gene: kdsr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v0.97 | KDSR |
Zornitza Stark gene: KDSR was added gene: KDSR was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KDSR were set to 28774589; 30467204 Phenotypes for gene: KDSR were set to Erythrokeratodermia variabilis et progressiva 4, MIM# 617526; severe thrombocytopaenia Review for gene: KDSR was set to GREEN Added comment: At least 5 families reported where thrombocytopaenia was a significant feature in addition to the eryhtrokeratoderma. Sources: Expert list |
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