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| Mendeliome v0.14662 | ATG5 | Elena Savva Marked gene: ATG5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14662 | ATG5 | Elena Savva Gene: atg5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2297 | ATG5 | Bryony Thompson Classified gene: ATG5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2297 | ATG5 | Bryony Thompson Gene: atg5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2296 | ATG5 |
Bryony Thompson gene: ATG5 was added gene: ATG5 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: ATG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG5 were set to 16625204; 26812546 Phenotypes for gene: ATG5 were set to Spinocerebellar ataxia, autosomal recessive 25 MIM#617584 Review for gene: ATG5 was set to AMBER Added comment: A homozgyous variant was identified in a single family with two affected siblings. Mice deficient for Atg5 specifically in neural cells and Atg5 null Drosophila develop progressive deficits in motor function. Sources: Expert list |
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