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| Severe Paediatric Disorders v0.12 | MPZ | Louise Daugherty reviewed gene: MPZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | MPZ | Louise Daugherty Publications for gene MPZ were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | MPZ | Louise Daugherty Mode of inheritance for gene MPZ was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | MPZ | Louise Daugherty Added phenotypes Dejerine-Sottas disease, 145900; Charcot-Marie-Tooth disease, type 2I, 607677; Charcot-Marie-Tooth disease, type 2J, 607736; Roussy-Levy syndrome, 180800; Charcot-Marie-Tooth disease, type 1B, 118200; Hypomyelinating neuropathy, congenital, 2, 618184; Charcot-Marie-Tooth disease, dominant intermediate D, 607791 for gene: MPZ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | MPZ | Louise Daugherty Added phenotypes Dejerine-Sottas disease, 145900; Charcot-Marie-Tooth disease, type 2I, 607677; Charcot-Marie-Tooth disease, type 2J, 607736; Roussy-Levy syndrome, 180800; Charcot-Marie-Tooth disease, type 1B, 118200; Hypomyelinating neuropathy, congenital, 2, 618184; Charcot-Marie-Tooth disease, dominant intermediate D, 607791 for gene: MPZ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | MPZ | Louise Daugherty Added phenotypes Dejerine-Sottas disease, 145900; Charcot-Marie-Tooth disease, type 2I, 607677; Charcot-Marie-Tooth disease, type 2J, 607736; Roussy-Levy syndrome, 180800; Charcot-Marie-Tooth disease, type 1B, 118200; Hypomyelinating neuropathy, congenital, 2, 618184; Charcot-Marie-Tooth disease, dominant intermediate D, 607791 for gene: MPZ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | MPZ | Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 2I, 607677; Charcot-Marie-Tooth disease, type 1B, 118200; Dejerine-Sottas disease, 145900; Hypomyelinating neuropathy, congenital, 2, 618184; Charcot-Marie-Tooth disease, type 2J, 607736; Roussy-Levy syndrome, 180800; Charcot-Marie-Tooth disease, dominant intermediate D, 607791 for gene: MPZ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | MPZ | Louise Daugherty Source Next Generation Children Project was added to MPZ. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | MPZ |
Louise Daugherty Source Expert Review Green was added to MPZ. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | MPZ |
Louise Daugherty gene: MPZ was added gene: MPZ was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: MPZ was set to |
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