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Severe Paediatric Disorders v0.12 | SLC5A7 | Louise Daugherty reviewed gene: SLC5A7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | SLC5A7 | Louise Daugherty Publications for gene SLC5A7 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | SLC5A7 | Louise Daugherty Added phenotypes Neuronopathy, distal hereditary motor, type VIIA, 158580; Myasthenic syndrome, congenital, 20, presynaptic, 617143 for gene: SLC5A7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SLC5A7 | Louise Daugherty Added phenotypes Neuronopathy, distal hereditary motor, type VIIA, 158580; Myasthenic syndrome, congenital, 20, presynaptic, 617143 for gene: SLC5A7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | SLC5A7 | Louise Daugherty Added phenotypes Neuronopathy, distal hereditary motor, type VIIA, 158580; Myasthenic syndrome, congenital, 20, presynaptic, 617143 for gene: SLC5A7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SLC5A7 | Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 20, presynaptic, 617143; Neuronopathy, distal hereditary motor, type VIIA, 158580 for gene: SLC5A7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | SLC5A7 |
Louise Daugherty Mode of inheritance for gene SLC5A7 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Neuronopathy, distal hereditary motor, type VIIA, 158580; Myasthenic syndrome, congenital, 20, presynaptic, 617143 for gene: SLC5A7 |
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Severe Paediatric Disorders v0.7 | SLC5A7 | Louise Daugherty Source Next Generation Children Project was added to SLC5A7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | SLC5A7 |
Louise Daugherty Source Expert Review Green was added to SLC5A7. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | SLC5A7 |
Louise Daugherty gene: SLC5A7 was added gene: SLC5A7 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SLC5A7 was set to |