| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Neurodegeneration with brain iron accumulation v0.33 | SQSTM1 | Bryony Thompson Marked gene: SQSTM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.33 | SQSTM1 | Bryony Thompson Gene: sqstm1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.33 | SQSTM1 | Bryony Thompson Classified gene: SQSTM1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.33 | SQSTM1 | Bryony Thompson Added comment: Comment on list classification: Only single family reported with iron accumulation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.33 | SQSTM1 | Bryony Thompson Gene: sqstm1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.31 | SQSTM1 |
Shekeeb Mohammad gene: SQSTM1 was added gene: SQSTM1 was added to Neuroferritinopathies. Sources: Literature Mode of inheritance for gene: SQSTM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SQSTM1 were set to 27545679 Phenotypes for gene: SQSTM1 were set to ataxia; dystonia; gaze palsy; neuroregression; cognitive decline; childhood dementia Review for gene: SQSTM1 was set to GREEN gene: SQSTM1 was marked as current diagnostic Added comment: Sources: Literature |
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