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Severe Paediatric Disorders v0.12 | SLC33A1 | Louise Daugherty reviewed gene: SLC33A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | SLC33A1 | Louise Daugherty Publications for gene SLC33A1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | SLC33A1 | Louise Daugherty Added phenotypes Congenital cataracts, hearing loss, and neurodegeneration, 614482; Spastic paraplegia 42, autosomal dominant, 612539 for gene: SLC33A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SLC33A1 | Louise Daugherty Added phenotypes Congenital cataracts, hearing loss, and neurodegeneration, 614482; Spastic paraplegia 42, autosomal dominant, 612539 for gene: SLC33A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SLC33A1 | Louise Daugherty Added phenotypes Congenital cataracts, hearing loss, and neurodegeneration, 614482; Spastic paraplegia 42, autosomal dominant, 612539 for gene: SLC33A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SLC33A1 | Louise Daugherty Added phenotypes Spastic paraplegia 42, autosomal dominant, 612539; Congenital cataracts, hearing loss, and neurodegeneration, 614482 for gene: SLC33A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SLC33A1 |
Louise Daugherty Mode of inheritance for gene SLC33A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Congenital cataracts, hearing loss, and neurodegeneration, 614482; Spastic paraplegia 42, autosomal dominant, 612539 for gene: SLC33A1 |
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Severe Paediatric Disorders v0.7 | SLC33A1 | Louise Daugherty Source Next Generation Children Project was added to SLC33A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | SLC33A1 |
Louise Daugherty Source Expert Review Green was added to SLC33A1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | SLC33A1 |
Louise Daugherty gene: SLC33A1 was added gene: SLC33A1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SLC33A1 was set to |