Activity
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| Metal Metabolism Disorders v0.22 | FTL | Bryony Thompson Marked gene: FTL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.22 | FTL | Bryony Thompson Gene: ftl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.22 | FTL | Bryony Thompson reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: None; Publications: 7493028; Phenotypes: Hyperferritinemia-cataract syndrome MIM#600886, L-ferritin deficiency, dominant and recessive MIM#615604, Neurodegeneration with brain iron accumulation 3 MIM#606159; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.0 | FTL |
Zornitza Stark gene: FTL was added gene: FTL was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FTL were set to 23940258; 18413574; 23421845; 19176363 Phenotypes for gene: FTL were set to 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; LFTD; NBIA3; 615604 L-FERRITIN DEFICIENCY; HRFTC; 606159 Neurodegeneration with brain iron accumulation 3; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; 600886 Hyperferritinemia-cataract syndrome; 615604 L-ferritin deficiency, dominant and recessive |
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