| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Leukodystrophy - paediatric v0.308 | NFE2L2 | Bryony Thompson Marked gene: NFE2L2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.308 | NFE2L2 | Bryony Thompson Gene: nfe2l2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.308 | NFE2L2 | Bryony Thompson Classified gene: NFE2L2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.308 | NFE2L2 | Bryony Thompson Gene: nfe2l2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.307 | NFE2L2 |
Bryony Thompson gene: NFE2L2 was added gene: NFE2L2 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFE2L2 were set to 29018201 Phenotypes for gene: NFE2L2 were set to Immunodeficiency, developmental delay, and hypohomocysteinemia MONDO:0060591; Disorders of glutathione metabolism Mode of pathogenicity for gene: NFE2L2 was set to Other Review for gene: NFE2L2 was set to GREEN gene: NFE2L2 was marked as current diagnostic Added comment: Paediatric-onset leukoencephalopathy is a feature of the condition. Sources: Literature |
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