| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Leukodystrophy - paediatric v0.246 | NDUFA2 | Zornitza Stark Marked gene: NDUFA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.246 | NDUFA2 | Zornitza Stark Gene: ndufa2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.246 | NDUFA2 | Zornitza Stark Publications for gene: NDUFA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.245 | NDUFA2 | Zornitza Stark Phenotypes for gene: NDUFA2 were changed from ?Mitochondrial complex I deficiency, nuclear type 13 618235; leukoencephalopathy to Mitochondrial complex I deficiency, nuclear type 13 618235; leukoencephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.28 | NDUFA2 | Bryony Thompson Classified gene: NDUFA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.28 | NDUFA2 | Bryony Thompson Gene: ndufa2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.27 | NDUFA2 |
Bryony Thompson gene: NDUFA2 was added gene: NDUFA2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA2 were set to ?Mitochondrial complex I deficiency, nuclear type 13 618235; leukoencephalopathy Review for gene: NDUFA2 was set to AMBER Added comment: Biallelic variants in 2 unrelated patients with cystic leukoencephalopathy and complex I deficiency. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||