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Severe Paediatric Disorders v0.12 | VPS13D | Louise Daugherty reviewed gene: VPS13D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | VPS13D | Louise Daugherty Publications for gene VPS13D were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | VPS13D | Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 4, 607317 for gene: VPS13D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | VPS13D | Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 4, 607317 for gene: VPS13D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | VPS13D | Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 4, 607317 for gene: VPS13D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | VPS13D | Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 4, 607317 for gene: VPS13D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | VPS13D |
Louise Daugherty Mode of inheritance for gene VPS13D was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spinocerebellar ataxia, autosomal recessive 4, 607317 for gene: VPS13D |
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Severe Paediatric Disorders v0.7 | VPS13D | Louise Daugherty Source Next Generation Children Project was added to VPS13D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | VPS13D |
Louise Daugherty Source Expert Review Green was added to VPS13D. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | VPS13D |
Louise Daugherty gene: VPS13D was added gene: VPS13D was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: VPS13D was set to |