| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia - paediatric v0.321 | NUBPL | Zornitza Stark Marked gene: NUBPL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.321 | NUBPL | Zornitza Stark Gene: nubpl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.321 | NUBPL | Zornitza Stark Publications for gene: NUBPL were set to PubMed: 23553477, 32518176, | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.315 | NUBPL | Chirag Patel Classified gene: NUBPL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.315 | NUBPL | Chirag Patel Gene: nubpl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.314 | NUBPL |
Chirag Patel gene: NUBPL was added gene: NUBPL was added to Ataxia - paediatric. Sources: Literature Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUBPL were set to PubMed: 23553477, 32518176, Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, nuclear type 21, OMIM # 618242 Review for gene: NUBPL was set to GREEN Added comment: Many patients reported with biallelic variants in gene with mitochondrial complex I deficiency. Presents with various neurodevelopmental issues including ataxia. Sources: Literature |
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