| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Leukodystrophy - paediatric v0.131 | COA7 | Bryony Thompson Marked gene: COA7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.131 | COA7 | Bryony Thompson Gene: coa7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.131 | COA7 | Bryony Thompson Classified gene: COA7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.131 | COA7 | Bryony Thompson Gene: coa7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.130 | COA7 |
Bryony Thompson changed review comment from: At least 3 unrelated cases reported with leukoencephalopathy as a feature of the condition. Sources: Expert list; to: At least 3 unrelated cases reported with leukoencephalopathy as a feature of the condition. Paediatric age of onset. Sources: Expert list |
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| Leukodystrophy - paediatric v0.130 | COA7 |
Bryony Thompson gene: COA7 was added gene: COA7 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COA7 were set to 27683825; 29718187 Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387 Review for gene: COA7 was set to GREEN Added comment: At least 3 unrelated cases reported with leukoencephalopathy as a feature of the condition. Sources: Expert list |
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