| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dystonia - complex v0.4 | FUCA1 | Bryony Thompson Marked gene: FUCA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.4 | FUCA1 | Bryony Thompson Gene: fuca1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.4 | FUCA1 | Bryony Thompson Classified gene: FUCA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.4 | FUCA1 | Bryony Thompson Gene: fuca1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.3 | FUCA1 |
Bryony Thompson gene: FUCA1 was added gene: FUCA1 was added to Dystonia - complex_RMH. Sources: Expert list Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FUCA1 were set to 31064022 Phenotypes for gene: FUCA1 were set to Fucosidosis, MIM#230000 Review for gene: FUCA1 was set to GREEN Added comment: Dystonia can be a feature of the phenotype. Dystonia was present in 9/75 Fucosidosis cases in a literature review (PMID: 31064022). Sources: Expert list |
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