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| Neurodegeneration with brain iron accumulation v0.2 | PSEN1 | Bryony Thompson Marked gene: PSEN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.2 | PSEN1 | Bryony Thompson Gene: psen1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.2 | PSEN1 |
Bryony Thompson gene: PSEN1 was added gene: PSEN1 was added to Neuroferritinopathies. Sources: Literature Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSEN1 were set to 28664294 Phenotypes for gene: PSEN1 were set to Neurodegeneration with brain iron accumulation; Frontotemporal dementia, MIM# 600274 Review for gene: PSEN1 was set to RED Added comment: A single case has been reported with a de novo variant and iron accumulation in the brain. Sources: Literature |
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