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| Severe Paediatric Disorders v0.12 | NEFL | Louise Daugherty reviewed gene: NEFL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | NEFL | Louise Daugherty Publications for gene NEFL were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | NEFL | Louise Daugherty Mode of inheritance for gene NEFL was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | NEFL | Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, dominant intermediate G, 617882; Charcot-Marie-Tooth disease, type 2E, 607684; Charcot-Marie-Tooth disease, type 1F, 607734 for gene: NEFL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | NEFL | Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, dominant intermediate G, 617882; Charcot-Marie-Tooth disease, type 2E, 607684; Charcot-Marie-Tooth disease, type 1F, 607734 for gene: NEFL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | NEFL | Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, dominant intermediate G, 617882; Charcot-Marie-Tooth disease, type 2E, 607684; Charcot-Marie-Tooth disease, type 1F, 607734 for gene: NEFL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | NEFL | Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 1F, 607734; Charcot-Marie-Tooth disease, type 2E, 607684; Charcot-Marie-Tooth disease, dominant intermediate G, 617882 for gene: NEFL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | NEFL | Louise Daugherty Source Next Generation Children Project was added to NEFL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | NEFL |
Louise Daugherty Source Expert Review Green was added to NEFL. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | NEFL |
Louise Daugherty gene: NEFL was added gene: NEFL was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: NEFL was set to |
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