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Severe Paediatric Disorders v0.17 | FTL | Louise Daugherty Mode of inheritance for gene FTL was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | FTL | Louise Daugherty reviewed gene: FTL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | FTL | Louise Daugherty Publications for gene FTL were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | FTL | Louise Daugherty Added phenotypes Hyperferritinemia-cataract syndrome, 600886; L-ferritin deficiency, dominant and recessive, 615604; Neurodegeneration with brain iron accumulation 3, 606159 for gene: FTL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | FTL | Louise Daugherty Added phenotypes Hyperferritinemia-cataract syndrome, 600886; L-ferritin deficiency, dominant and recessive, 615604; Neurodegeneration with brain iron accumulation 3, 606159 for gene: FTL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | FTL | Louise Daugherty Added phenotypes Hyperferritinemia-cataract syndrome, 600886; L-ferritin deficiency, dominant and recessive, 615604; Neurodegeneration with brain iron accumulation 3, 606159 for gene: FTL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | FTL | Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 3, 606159; L-ferritin deficiency, dominant and recessive, 615604; Hyperferritinemia-cataract syndrome, 600886 for gene: FTL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | FTL | Louise Daugherty Source Next Generation Children Project was added to FTL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | FTL |
Louise Daugherty Source Expert Review Green was added to FTL. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | FTL |
Louise Daugherty gene: FTL was added gene: FTL was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: FTL was set to |