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| Mendeliome v0.14666 | PLD3 | Elena Savva Marked gene: PLD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14666 | PLD3 | Elena Savva Gene: pld3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2952 | PLD3 | Bryony Thompson Classified gene: PLD3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2952 | PLD3 | Bryony Thompson Gene: pld3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2950 | PLD3 |
Bryony Thompson gene: PLD3 was added gene: PLD3 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: PLD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLD3 were set to 29053796; 30312375; 30312384 Phenotypes for gene: PLD3 were set to Spinocerebellar ataxia 46 MIM#617770 Review for gene: PLD3 was set to AMBER Added comment: A heterozygous missense was identified in 8 affected members of a single family with spinocerebellar ataxia, and supporting in vitro functional assays. Sources: Expert list |
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