| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia - paediatric v0.78 | AFG3L2 | Bryony Thompson Marked gene: AFG3L2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.78 | AFG3L2 | Bryony Thompson Gene: afg3l2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.78 | AFG3L2 | Bryony Thompson Classified gene: AFG3L2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.78 | AFG3L2 | Bryony Thompson Gene: afg3l2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.64 | AFG3L2 |
Bryony Thompson gene: AFG3L2 was added gene: AFG3L2 was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: AFG3L2 were set to 20725928 Phenotypes for gene: AFG3L2 were set to Spastic ataxia 5, autosomal recessive MIM#614487; Spinocerebellar ataxia 28 MIM#610246 Review for gene: AFG3L2 was set to GREEN Added comment: The onset of the recessive form of ataxia is usually in infancy or childhood. The dominantly inherited form of ataxia is mostly adult onset, but onset in childhood has been reported. Sources: Expert list |
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