| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia - paediatric v0.145 | PNPLA6 | Bryony Thompson Marked gene: PNPLA6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.145 | PNPLA6 | Bryony Thompson Gene: pnpla6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.145 | PNPLA6 | Bryony Thompson Classified gene: PNPLA6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.145 | PNPLA6 | Bryony Thompson Gene: pnpla6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.144 | PNPLA6 |
Bryony Thompson gene: PNPLA6 was added gene: PNPLA6 was added to Ataxia - paediatric. Sources: Expert list Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA6 were set to Boucher-Neuhauser syndrome MIM#215470; Laurence-Moon syndrome MIM#245800; Oliver-McFarlane syndrome MIM#275400; Spastic paraplegia 39, autosomal recessive MIM#612020 Review for gene: PNPLA6 was set to GREEN Added comment: Variable age of onset for neurological features (including ataxia) from childhood to adulthood. Sources: Expert list |
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