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| Hereditary neuropathy v1.120 | PDK3 | Louise Daugherty Source London North GLH was added to PDK3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.81 | PDK3 | Alexander Rossor edited their review of gene: PDK3: Added comment: Now 2 families, likely pathogenic; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.63 | PDK3 | Louise Daugherty reviewed gene: PDK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.60 | PDK3 |
Louise Daugherty Added phenotypes ?Charcot Marie Tooth disease, X linked dominant, 6, 300905 for gene: PDK3 Publications for gene PDK3 were changed from PMID: 23297365 (Kennerson et al, 2013) Australian family; PMID: 26801680 (Kennerson et al, 2016) Korean family to 26801680; 23297365 |
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| Hereditary neuropathy v1.58 | PDK3 | Natalie Forrester reviewed gene: PDK3: Rating: AMBER; Mode of pathogenicity: ; Publications: 23297365, 26801680; Phenotypes: ?Charcot Marie Tooth disease, X linked dominant, 6, 300905; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.57 | PDK3 | Louise Daugherty Source NHS GMS was added to PDK3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.56 | PDK3 | Louise Daugherty Source South West GLH was added to PDK3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||