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| Neurodegeneration with brain iron accumulation v0.35 | THAP1 | Bryony Thompson Marked gene: THAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.35 | THAP1 | Bryony Thompson Gene: thap1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.35 | THAP1 | Bryony Thompson Classified gene: THAP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.35 | THAP1 | Bryony Thompson Gene: thap1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.31 | THAP1 |
Shekeeb Mohammad gene: THAP1 was added gene: THAP1 was added to Neuroferritinopathies. Sources: Literature Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: THAP1 were set to 38094642; 33665847 Phenotypes for gene: THAP1 were set to cervical dystonia; dystonia; dystonic tremor Review for gene: THAP1 was set to GREEN gene: THAP1 was marked as current diagnostic Added comment: 3 published cases; 1 under clinical care with a pathogenic THAP1 variant. Sources: Literature |
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