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| Severe Paediatric Disorders v0.12 | PMP22 | Louise Daugherty reviewed gene: PMP22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | PMP22 | Louise Daugherty Publications for gene PMP22 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | PMP22 | Louise Daugherty Mode of inheritance for gene PMP22 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | PMP22 | Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 1E, 118300; ?Neuropathy, inflammatory demyelinating, 139393; Dejerine-Sottas disease, 145900; Roussy-Levy syndrome, 180800; Neuropathy, recurrent, with pressure palsies, 162500; Charcot-Marie-Tooth disease, type 1A, 118220 for gene: PMP22 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | PMP22 | Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 1E, 118300; ?Neuropathy, inflammatory demyelinating, 139393; Dejerine-Sottas disease, 145900; Roussy-Levy syndrome, 180800; Neuropathy, recurrent, with pressure palsies, 162500; Charcot-Marie-Tooth disease, type 1A, 118220 for gene: PMP22 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | PMP22 | Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 1E, 118300; ?Neuropathy, inflammatory demyelinating, 139393; Dejerine-Sottas disease, 145900; Roussy-Levy syndrome, 180800; Neuropathy, recurrent, with pressure palsies, 162500; Charcot-Marie-Tooth disease, type 1A, 118220 for gene: PMP22 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | PMP22 | Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 1A, 118220; ?Neuropathy, inflammatory demyelinating, 139393; Dejerine-Sottas disease, 145900; Neuropathy, recurrent, with pressure palsies, 162500; Roussy-Levy syndrome, 180800; Charcot-Marie-Tooth disease, type 1E, 118300 for gene: PMP22 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | PMP22 | Louise Daugherty Source Next Generation Children Project was added to PMP22. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | PMP22 |
Louise Daugherty Source Expert Review Green was added to PMP22. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | PMP22 |
Louise Daugherty gene: PMP22 was added gene: PMP22 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PMP22 was set to |
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