Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Severe Paediatric Disorders v0.17 | MFN2 | Louise Daugherty Mode of inheritance for gene MFN2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | MFN2 | Louise Daugherty reviewed gene: MFN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | MFN2 | Louise Daugherty Publications for gene MFN2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | MFN2 | Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy VIA, 601152; Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 for gene: MFN2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | MFN2 | Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy VIA, 601152; Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 for gene: MFN2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | MFN2 | Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy VIA, 601152; Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 for gene: MFN2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | MFN2 | Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260; Hereditary motor and sensory neuropathy VIA, 601152; Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 for gene: MFN2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | MFN2 | Louise Daugherty Source Next Generation Children Project was added to MFN2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | MFN2 |
Louise Daugherty Source Expert Review Green was added to MFN2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.4 | MFN2 |
Louise Daugherty gene: MFN2 was added gene: MFN2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: MFN2 was set to |