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Severe Paediatric Disorders v0.12 | TPP1 | Louise Daugherty reviewed gene: TPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | TPP1 | Louise Daugherty Publications for gene TPP1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | TPP1 | Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270 for gene: TPP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | TPP1 | Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270 for gene: TPP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | TPP1 | Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270 for gene: TPP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | TPP1 | Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 7, 609270; Ceroid lipofuscinosis, neuronal, 2, 204500 for gene: TPP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | TPP1 |
Louise Daugherty Mode of inheritance for gene TPP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270 for gene: TPP1 |
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Severe Paediatric Disorders v0.7 | TPP1 | Louise Daugherty Source Next Generation Children Project was added to TPP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | TPP1 |
Louise Daugherty Source Expert Review Green was added to TPP1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | TPP1 |
Louise Daugherty gene: TPP1 was added gene: TPP1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TPP1 was set to |