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| Neurodegeneration with brain iron accumulation v0.31 | ATP7B | Shekeeb Mohammad reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: 33680437, 28376267, 34289020; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.28 | ATP7B | Zornitza Stark Marked gene: ATP7B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.28 | ATP7B | Zornitza Stark Gene: atp7b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.28 | ATP7B | Zornitza Stark Phenotypes for gene: ATP7B were changed from dystonia; parkinsonism; psychosis; liver failure; pancreatitis; renal tubular acidosis; dysarthria; dysphagia to Wilson disease, MIM# 277900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.27 | ATP7B | Zornitza Stark Classified gene: ATP7B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.27 | ATP7B | Zornitza Stark Gene: atp7b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.26 | ATP7B | Zornitza Stark reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilson disease, MIM# 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.22 | ATP7B |
Shekeeb Mohammad gene: ATP7B was added gene: ATP7B was added to Neuroferritinopathies. Sources: Literature,Expert list Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP7B were set to 27543917; 28376267 Phenotypes for gene: ATP7B were set to dystonia; parkinsonism; psychosis; liver failure; pancreatitis; renal tubular acidosis; dysarthria; dysphagia gene: ATP7B was marked as current diagnostic |
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