| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia - paediatric v0.209 | ABHD12 | Zornitza Stark Marked gene: ABHD12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.209 | ABHD12 | Zornitza Stark Gene: abhd12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.56 | ABHD12 | Bryony Thompson Classified gene: ABHD12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.56 | ABHD12 | Bryony Thompson Gene: abhd12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.55 | ABHD12 |
Bryony Thompson gene: ABHD12 was added gene: ABHD12 was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABHD12 were set to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674 Review for gene: ABHD12 was set to GREEN Added comment: Ataxia is a prominent feature of the condition and onset is usually in childhood or adolescence. Sources: Expert list |
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