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| Ataxia v1.101 | PLD3 | Bryony Thompson Publications for gene: PLD3 were set to 30312375; 30312384; 29053796 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.100 | PLD3 | Bryony Thompson edited their review of gene: PLD3: Added comment: Another rare missense c.77T>C p.Ile26Thr was identified in a SCA case. Now, 2 reported variants are associated with SCA.; Changed publications: 29053796, 30312375, 30312384, 38059248 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.100 | Bryony Thompson Copied gene PLD3 from panel Ataxia - adult onset | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.100 | PLD3 |
Bryony Thompson gene: PLD3 was added gene: PLD3 was added to Ataxia. Sources: Expert Review Amber,Royal Melbourne Hospital,GeneReviews Mode of inheritance for gene: PLD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PLD3 were set to 30312375; 30312384; 29053796 Phenotypes for gene: PLD3 were set to ?Spinocerebellar ataxia 46 |
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