| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dystonia - complex v0.102 | SAMHD1 | Zornitza Stark Marked gene: SAMHD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.102 | SAMHD1 | Zornitza Stark Gene: samhd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.45 | SAMHD1 | Bryony Thompson Classified gene: SAMHD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.45 | SAMHD1 | Bryony Thompson Gene: samhd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.44 | SAMHD1 |
Bryony Thompson gene: SAMHD1 was added gene: SAMHD1 was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAMHD1 were set to 20131292 Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5 MIM#612952 Review for gene: SAMHD1 was set to AMBER Added comment: Two unrelated cases reported with dystonia as a feature of the condition. Sources: Expert list |
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